Metabolism research publications | University of Edinburgh

Journal of Translational Medicine. 2026 Oct 29 · DOI: 10.1186/s12967-026-09126-6

18F-Fluorocholine uptake is greater by human supraclavicular brown than white adipose tissue and inversely associated with body mass index

Karla J. Suchacki, Lynne E. Ramage, Luke D. Boyle, T’ng Choong Kwok, Giovanny Rodriguez Blanco, Alexandra Kelman, Calum D. Gray, Alex von Kriegsheim, Maria-lena Gregoriades, Gabriel C. Oniscu, Alison M. Fletcher, Natalie Z. M. Homer, John D. Terrace, J. William Allwood, Sonia J. Wakelin, Edwin J. R. van Beek, Dilip Patel, Andrew J. Finch, Roland H. Stimson

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Graphical abstract: fluorocholine uptake in human brown adipose tissue. Suchacki et al., 2026, doi:10.1186/s12967-026-09126-6. CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Unmodified.

Diabetes Obes Metab. 2026 Oct;28(10):9543-9551 · PMID: 42547757; DOI: 10.1111/dom.71148

Absence of Interaction Between 5α-Reductase Inhibitors and Glucocorticoids on Incidence of Myocardial Infarction in People With Type 2 Diabetes

Haolan Tu, Chengsheng Ju, Stuart J McGurnaghan, Luke A K Blackbourn, Scottish Diabetes Research Network Epidemiology Group, Ewan R Pearson, Li Wei, Ruth Andrew

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Diabet Med. 2026 Oct;43(10):e70305. · PMID: 41904365; DOI: 10.1111/dme.70305

Metabolic and bariatric surgery for patients with obesity type 1 diabetes mellitus: A comprehensive updated systematic review and meta-analysis

Mitchell S, Patwardhan K, Lucocq J, Geropoulos G, Lamb PJ, Ghanem O, Stimson RH, Robertson AG

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J Intern Med. 2026 Sep · PMID: 42681552; DOI: 10.1111/joim.70157

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Robert K Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F Broekema, Rebecca J Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M Elsayed, Antía Fernández-Pombo, Alessandra Gambineri, Ingrid M Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A Oral, Flavia Prodam, Ferruccio Santini, David B Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo-Vilar

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Adv Sci (Weinh). 2026 Sep;13(51):e76191. · PMID: 42348442; DOI: 10.1002/advs.76191

Adipocyte Myoglobin Is a Determinant of Energy Expenditure and a Potential Target to Limit Obesity

Strehlau C, Broghammer H, Gebhardt C, Hoffmann A, Hagemann T, Midilli Ş, Zimmer RS, Schubert K, Karagiannakou V, Georgiadi A, Ost M, Krüger M, Roth L, Krause K, Klöting N, Keller M, Wabitsch M, Nuwayhid R, Stimson RH, Stumvoll M, Blüher M, Weiner J, Heiker JT

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Evid Based Nurs. 2026 Sep;29(4):198. · PMID: 40441753; DOI: 10.1136/ebnurs-2025-104281

Obesity in pregnancy: women are motivated to make healthy lifestyle changes and be active during labour

Clark E, Reynolds RM

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Talanta. 2026 Aug 13 (online); 2027 Feb;312(Pt B):130455 · PMID: 42628455; DOI: 10.1016/j.talanta.2026.130455

Estrogenic profiles in lungs from a rat model of pulmonary arterial hypertension measured by liquid chromatography triple quadrupole mass spectrometry

James W Weatherill, Hicham Labazi, Nina Denver, Joanna P Simpson, Scott G Denham, Natalie Zm Homer, Margaret R MacLean, Ruth Andrew

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Nat Genet. 2026 Jul;58(7):1632-1642 · PMID: 42286141; DOI: 10.1038/s41588-026-02633-8

A progeria syndrome links DNA hypermethylation to age-related pathology

Dan Sarni, Gráinne Neary, Paula L Carroll, Chris S Vink, Caroline V Billard, Tomoya Isobe, Xiong Weng, Jordan R Portman, Daniel L McCartney, Patricia Heyn, Rob J van 't Hof, Linda R Morrison, Carol-Anne Martin, Colin Stok, Margaret E Harley, Andrea Leitch, Maarten van den Ancker, Nic Robertson, Laura Kitto, Richard Clark, Michael Rennie, Anna Popravko, Jessica J McClure, David A Parry, Giuseppina Camiolo, Tom Leah, Hélène Jakobczyk, Roly Megaw, Lisa McKie, Grant F Marshall, Nika Balkic, Jeanne Amiel, Tania Barragán Arévalo, Grace Bronken McCarthy, Catherine A Buchanan, Alexandre Buffet, Alberto Cascón, Benjamin Cogne, Solene Conrad, Anna Maria Cueto-González, Maria Currás-Freixes, Gunnar Douzgos Houge, Chin-To Fong, Jaya K George-Abraham, Kate Gibson, Lourdes Ibáñez, Nicola Longo, Charlotte Lussey-Lepoutre, Bradley S Miller, Alejandro Moles-Fernandez, Nishitha R Pillai, Tatiana Tvrdik, Marie Vincent, Emiy Yokoyama, Catherine M Abbott, Francisco Jose Sanchez-Luque, Katrin Ottersbach, Cosimo De Bari, Anke J Roelofs, Rebekah Tillotson, Kamil R Kranc, Sara J Brown, Riccardo E Marioni, Mihaela Crisan, Berthold Göttgens, Neil C Henderson, Robert K Semple, Kevin B Myant, Elaine Dzierzak, Martin A M Reijns, Duncan Sproul, Andrew P Jackson

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PLoS Biol. 2026 Jun 18 · PMID: 42313833

Adiponectin exerts sex-dependent effects on lipid, amino acid, and glucose metabolism during caloric restriction

Yoshiko M Ikushima, Kuan-Chan Chen, Richard J Sulston, Domenico Mattiucci, Eleanor J Brain, Stefanie A Fung Xin Zi, Karla J Suchacki, Benjamin J Thomas, Andrea Lovdel, Matthew Bennett, Hiroshi Kobayashi, Phillip D Whitfield, Keiyo Takubo, Andrew H Baker, Nicholas M Morton, Robert K Semple, William P Cawthorn

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Preprint · eLife reviewed preprint. 2026 Jun 9 · DOI: 10.7554/eLife.110896.1

PIK3CA-related overgrowth spectrum (PROS) zebrafish models reveal pan-lineage developmental dysregulation

Hannah Brunsdon, Nuoya Wang, Micha Sam Brickman Raredon, Ralitsa R Madsen, Robert K Semple, E Elizabeth Patton

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Proc Natl Acad Sci U S A. 2026 Jun;123(26):e2514992123 · PMID: 42341050; DOI: 10.1073/pnas.2514992123

Sex differences in Drosophila intestinal metabolism contribute to sexually dimorphic infection outcome and alter gut pathogen virulence

Marko Rubinić, Yi Yu, Aranzazu Arias-Rojas, Kaisy A Martinez, Wioletta Klimek, Dagmar Frahm, Volker Brinkmann, Nicole Paczia, Kathirvel Alagesan, David Duneau, Igor Iatsenko

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J Clin Endocrinol Metab. 2026 Jun;111(7):2049-2063 · PMID: 41606799; DOI: 10.1210/clinem/dgag031

Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: A single-center experience

Nicola Improda, Harshini Katugampola, Manuela Cerbone, Pratik Shah, Saji Alexander, Abigail Atterbury, Smail Hadj-Rabia, Catherine J Peters, Robert K Semple, Mehul Tulsidas Dattani

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J Endocrinol. 2026 May 11 · PMID: 42023604

Caloric restriction exerts site-, sex-, and duration-dependent effects on skeletal structure and bone marrow adiposity

Kuan-Chan Chen, Richard J Sulston, Karla J Suchacki, Yoshiko M Ikushima, Benjamin J Thomas, Andrea Lovdel, Alex J Lafond, Sharon E Mitchell, John R Speakman, Nicholas M Morton, Robert K Semple, William P Cawthorn

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J Mol Endocrinol. 2026 May;76(4):e250134 · PMID: 42149708; DOI: 10.1530/jme-25-0134

Massively parallel functional genomic assays in endocrinology: from promise to delivery

Jingxiang Xu, Vahid Aslanzadeh, Grzegorz Kudla, Robert K Semple

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Sci Signal. 2026 May;19(936):eaeg3389 · PMID: 42085532; DOI: 10.1126/scisignal.aeg3389

LIPID MAPS: Powering discovery in lipidomics

Lauren Cockayne, Matthew J Conroy, Chetin Baloglu, Eoin Fahy, Gerhard Hagn, Oswald Quehenberger, Aaron M Armando, Gabriele Lombardi Bendoula, Jean-Marie Galano, Ángel Sánchez-Illana, Thierry Durand, Nadja Kampschulte, Paul D Kennedy, Miguel Gijón, Hiroshi Tsugawa, Makoto Arita, Kirk Maxey, Meghan Truskowski, Ondrej Kuda, Shazia Khan, Natalie Z M Homer, Yuki Matsuzawa, Rosario Domingues, Peter J Meikle, Corey Giles, Kevin Huynh, Robert C Murphy, Zidan Wang, Yu Xia, Xue Li Guan, Kim Ekroos, Gerhard Liebisch, Alfred H Merrill, Andrea F Lopez-Clavijo, Dominic Campopiano, Craig E Wheelock, Shankar Subramaniam, Robert Andrews, Laura Goracci, Zhixu Ni, Maria Fedorova, Simon Andrews, William Griffiths, Ruth Andrew, Edward A Dennis, Valerie B O'Donnell

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Br J Pharmacol. 2026 May;183(10):2236-2255 · PMID: 41456844; DOI: 10.1111/bph.70297

Pharmacological inhibition of hydroxysteroid 11-beta dehydrogenase type 1 (11-βHSD1) after myocardial infarction preserves cardiac function in a translational mini-pig model

Sara Al Disi, Raimondo Ascione, Shazia Khan, Thomas Johnson, Eva Sammut, Vito Domenico Bruno, Daniel Baz Lopez, Carol-Anne James, Joanna Simpson, Natalie Z Homer, Michael Millar, Trisha Singh, Alex von Kreigsheim, Nick L Mills, Brian R Walker, Ruth Andrew, Scott P Webster, Andrew Whittaker, Adrian Freeman, Gillian A Gray

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eLife. 2026 Apr 22;14:RP107327. · PMID: 42017197; DOI: 10.7554/eLife.107327.3

A quantitative in vivo CRISPR-imaging platform identifies regulators of hyperplastic and hypertrophic adipose morphology in zebrafish

Wafer R, Tandon P, Minchin J

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FASEB J. 2026 Apr;40(7):e71689 · PMID: 41891907; DOI: 10.1096/fj.202504049r

Contrasting Effects of Chronic Glucokinase Activation and Inhibition on Pancreatic Beta-Cell Function

Matthew Lloyd, Natascia Vedovato, Samuel J Mullan, Alice Elphick, Aerin J Dumenil, Chantal Rufer, Alexandra C Title, Burcak Yesildag, Elizabeth Haythorne, Frances M Ashcroft

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Nat Commun. 2026 Apr;17(1):5921 · PMID: 42062260; DOI: 10.1038/s41467-026-71528-3

Impaired glucose tolerance and mild diabetes induce β-cell dysfunction in mice

Elizabeth Haythorne, Matthew Lloyd, Chris A Smith, Martijn van de Bunt, Maria Rohm, Alice Elphick, Malgorzata Cyranka, Fiona M Gribble, Frank Reimann, Frances M Ashcroft

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J Physiol. 2026 Mar 4. · PMID: 41779124

Abcc1 deficiency protects from corticosterone but not cortisol-induced adiposity and insulin resistance in a sex-specific manner

Mhairi A Paul, Boglarka Nagy, Sofia Laforest, Joanna P Simpson, William Mungall, Natalie Z M Homer, Robert K Semple, Ruth Andrew, Roland H Stimson & Mark Nixon.

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Visual abstract for Abcc1 deficiency protects from corticosterone but not cortisol-induced adiposity and insulin resistance in a sex-specific manner — Visual abstract ↗

Nature Medicine. 2026. Mar;32(3):797-810, https://doi.org/10.1038/s41591-026-04201-3. · DOI: 10.1038/s41591-026-04201-3

Adults with type 1 diabetes define what matters to them in stem-cell derived islet cell therapy

Speight J, Hussain S, Anandhakrishnan A, Danne T, Latres E, Karpen SR, Mytkolli L, Scibilia R, Soeholm U, Senior PA; Breakthrough T1D PROMISE Workshop Group

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Diabetes Obes Metab. 2026 Mar;28(3):1836-1843. · PMID: 41366154; DOI: 10.1111/dom.70365

CGM-derived average glucose is more strongly associated with microvascular complications than HbA1c in type 1 diabetes

Stimson RH, Crane MS, Dover AR, Forbes S, Wright RJ, Lyall MJ, Strachan MWJ, Gibb FW

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Eur Heart J Cardiovasc Pharmacother. 2026 Feb;12(2):97-107 · PMID: 41544653; DOI: 10.1093/ehjcvp/pvag003

Cardiovascular safety of 5α-reductase inhibitors in people with benign prostatic hyperplasia and type 2 diabetes: a propensity score-matched analysis

Haolan Tu, Chengsheng Ju, Stuart J McGurnaghan, Luke A K Blackbourn, Scottish Diabetes Research Network Epidemiology Group, Ewan Pearson, Li Wei, Ruth Andrew

PubMed ↗

Graphical abstract comparing cardiovascular outcomes among men with benign prostatic hyperplasia and type 2 diabetes receiving 5α-reductase inhibitors or tamsulosin. — Graphical abstract ↗Tu et al. (2026), European Heart Journal – Cardiovascular Pharmacotherapy. DOI: 10.1093/ehjcvp/pvag003. CC BY 4.0. Original image reproduced unchanged.

Eur Heart Journal. 2026 Jan 20 · DOI:

Estriol attenuates visceral adiposity and pulmonary artery smooth muscle cell proliferation via ERα-mediated signaling

Smriti Sharma, Joshua P Dignam, Gregor Aitchison, Rosemary Gaw, Ioannis Stasinopolous, Ayman Gebril, Martin Wabitsch, Ruth Andrew, Margaret R MacLean.

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Graphical abstract showing estriol signalling through ERα in adipocytes and pulmonary artery smooth muscle cells. — Graphical abstract ↗Sharma et al. (2026), European Heart Journal Open. DOI: 10.1093/ehjopen/oeag001. CC BY 4.0.

Diabetic Medicine. 2026. Jan 20; 00:e70230. https://doi.org/10.1111/dme.70230. · DOI: 10.1111/dme.70230

A UK key opinion leader perspective: Navigating the immunological and logistical transformation brought by stem cell-derived islets for the treatment of type 1 diabetes

Strakosch T, Forbes S

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Journal cover for A UK key opinion leader perspective: Navigating the immunological and logistical transformation brought by stem cell-derived islets for the treatment of type 1 diabetes — Journal cover ↗Cover image: Dr David Wilson and Mr Angus Comerford

Diabetic Medicine. 2026. Jan 18; 00:e70228. https://doi.org/10.1111/dme.70228. · DOI: 10.1111/dme.70228

Ketone test strip use is low in adults with type 1 diabetes and is not associated with HbA1c or glucose metrics on continuous glucose monitoring

Stimson RH, Dover AR, Lyall MJ, Barclay JI, Mackenzie SD, Forbes S, Gibb FW

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Diabetologia. 2026 Jan;69(1):59-68. · PMID: 41165798; DOI: 10.1007/s00125-025-06578-1

Persistent C-peptide secretion is associated with favourable CGM metrics in adults with type 1 diabetes

Stimson RH, Dover AR, Clarke C, Conceicao C, McDonald L, Miller L, Wise H, Forbes S, Wright RJ, Lyall MJ, Strachan MWJ, Gibb FW

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Dev Cogn Neurosci. 2026 Jan;77:101643. · PMID: 41240419; DOI: 10.1016/j.dcn.2025.101643

Preterm birth, socioeconomic status, and white matter development across childhood

Mckinnon K, Blesa Cábez M, Thye M, Abel S, Smikle R, Skelton J, Jiménez-Sánchez L, Vaher K, Sullivan G, Corrigan A, Barclay G, Jardine C, Hamilton I, McIntyre D, Chua YW, Amir R, Quigley AJ, Battersby C, Tsanas A, Batty GD, Reynolds RM, Cox SR, Whalley HC, Thrippleton MJ, Bastin ME, Richardson H, Boardman JP

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Graphical abstract showing associations of preterm birth and socioeconomic status with white matter development in neonates and children aged five years. — Graphical abstract ↗Mckinnon et al., Developmental Cognitive Neuroscience (2026). CC BY 4.0.

Curr Osteoporos Rep 2026; 24(1):10. · DOI: 10.1007/s11914-026-00953-6

Deep learning for analysis of bone marrow adiposity: breakthroughs from recent large-scale analyses in the UK Biobank

Xu W, Wang C, and Cawthorn WP

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Br J Pharmacol. 2025 Nov 30 · PMID: 41320177

Cytochrome P450 1A1 influences obesity-induced pulmonary hypertension

Joshua P. Dignam, Smriti Sharma, Gregor Aitchison, Ayman Gebril, Ioannis Stasinopoulos, Sofia Laforest, Chelbi Coyle, Ruth Andrew, Natalie Z. M. Homer, Sébastien Bonnet, Sandra Breuils-Bonnet, Martin Wabitsch, Margaret R. MacLean.

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PNAS. 2025. Nov 18;122(46):e2503308122. doi: 10/1073/pnas.2503308122.

MC1R determines healing outcomes in acute and chronic cutaneous wounds

Nawilaijaroen Y, Rocliffe HR, Austin-Williams S, Krilis G, Dawson C, Harijanto P, Pellicoro A, Zhou K, Ji Y, Bain CA, Kilpatrick AM, Chen Y, Biswas A, Forbes S, Crichton M, Huang Z, Forbes SJ, Caporali A, Cash JL

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Nat Commun. 2025 Oct 15;16(1):9143 · PMID: 41093840

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance

Vahid Aslanzadeh, Gemma V Brierley, Rupa Kumar, Hasan Çubuk, Corinne Vigouroux, Kenneth A Matreyek, Grzegorz Kudla, Robert K Semple

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Signal Transduct Target Ther. 2025 Oct 1;10(1):320 · PMID: 41028721

Molecular signatures of skeletal muscle insulin resistance: bringing personalised diabetes treatment a step closer

Giovanni Levante, Roland H Stimson

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Clin Endocrinol (Oxf). 2025 Oct;103(4):540-566 · PMID: 40364581

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Yasir S Elhassan, James M Hawley, Leanne Cussen, Ali Abbara, Sophie A Clarke, Punith Kempegowda, Rima K Dhillon-Smith, Puja Thadani, Maureen Busby, Lucy Owusu-Darkwah, Rachel Marrington, W Colin Duncan, Robert K Semple, Richard Quinton, Michael W O'Reilly

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Diabet Med. 2025 Oct;42(10):e70074 · PMID: 40386839

Predictors of impaired awareness of hypoglycaemia and severe hypoglycaemia in adults with type 1 diabetes

Nicola N Zammitt, Shareen Forbes, Berit Inkster, Mark W J Strachan, Rohana J Wright, Anna R Dover, Roland H Stimson, Fraser W Gibb

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Nat Methods. 2025 Oct;22(10):2002-2006 · PMID: 40890551; DOI: 10.1038/s41592-025-02810-3

Translon: a single term for translated regions

Michał I Świrski, Jack A S Tierney, M Mar Albà, Dmitry E Andreev, Julie L Aspden, John F Atkins, Michal Bassani-Sternberg, Marla J Berry, Stefano Biffo, Kathleen Boris-Lawrie, Mark Borodovsky, Ian Brierley, Matthew Brook, Marie A Brunet, Janusz M Bujnicki, Neva Caliskan, Lorenzo Calviello, Anne-Ruxandra Carvunis, Jamie H D Cate, Can Cenik, Kung Yao Chang, Yiwen Chen, Sonia Chothani, Jyoti S Choudhary, Patricia L Clark, Jim Clauwaert, Lynn Cooley, Erik Dassi, Kellie Dean, Jean-Jacques Diaz, Christoph Dieterich, Rivka Dikstein, Jonathan D Dinman, Sergey E Dmitriev, Olga A Dontsova, Christine M Dunham, Sandeep M Eswarappa, Philip J Farabaugh, Pouya Faridi, Ivo Fierro-Monti, Andrew E Firth, David Gatfield, Fátima Gebauer, Mikhail S Gelfand, Nicola K Gray, Rachel Green, Chris H Hill, Ya-Ming Hou, Norbert Hübner, Zoya Ignatova, Pavel Ivanov, Shintaro Iwasaki, Rory Johnson, Ahmad Jomaa, Marko Jovanovic, Irwin Jungreis, Manolis Kellis, Jeffrey S Kieft, Alex V Kochetov, Eugene V Koonin, Andrei A Korostelev, Joanna Kufel, Ivan V Kulakovskiy, Leo Kurian, Denis L J Lafontaine, Ola Larsson, Gary Loughran, Julius Lukeš, Marco Mariotti, Elena S Martens-Uzunova, Thomas F Martinez, Akinobu Matsumoto, Joel McManus, Jan Medenbach, Sergey V Melnikov, Gerben Menschaert, Catharina Merchante, Martin Mikl, W Allen Miller, Oliver Mühlemann, Olivier Namy, Danny D Nedialkova, Jozef Nosek, Sandra Orchard, Petar Ozretić, Mihaela Pertea, Dmitri D Pervouchine, Luísa Romão, David Ron, Xavier Roucou, Maria P Rubtsova, Jorge Ruiz-Orera, Alan Saghatelian, Steven L Salzberg, Lucia A Seale, Cathal Seoighe, Petr V Sergiev, Premal Shah, Nikolay Shirokikh, Sarah A Slavoff, Nahum Sonenberg, Timothy J Stasevich, Roman J Szczesny, Tiina Tamm, Marek Tchórzewski, Ivan Topisirovic, Michel L Tremblay, Tamir Tuller, Igor Ulitsky, Leoš Shivaya Valášek, Petra Van Damme, Gabriella Viero, Juan Antonio Vizcaino, Christine Vogel, Edward W J Wallace, Jonathan S Weissman, Eric Westhof, Nicola Whiffin, Daniel N Wilson, Zhi Xie, Jonathan W Yewdell, Martina M Yordanova, Chien-Hung Yu, Vyacheslav Yurchenko, Bojan Zagrovic, TRANSLACORE, Eivind Valen, Pavel V Baranov

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Nat Commun. 2025 Sep 23;16(1):8332 · PMID: 40987763

Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank

Wei Xu, Ines Mesa-Eguiagaray, David M Morris, Chengjia Wang, Calum D Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Lijuan Wang, Xue Li, Paul R H J Timmers, Maria Timofeeva, Scott Ik Semple, Tom MacGillivray, Evropi Theodoratou, William P Cawthorn

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Front Endocrinol (Lausanne). 2025 Sep 22;16:1666681 · PMID: 41059224; DOI: 10.3389/fendo.2025.1666681

Bone marrow adipose tissue expansion and bone loss in experimental chronic kidney disease is independent of altered bone marrow stromal cell lineage determination

Worachet Promruk, William P Cawthorn, Lucie E Bourne, Soher N Jayash, Aine Pears, Katherine A Staines, Louise A Stephen, Colin Farquharson

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Diabet Med. 2025 Sep 9:e70137 · PMID: 40925746

Impact of Omnipod 5 automated insulin delivery on continuous glucose monitoring metrics and predictors of improvement in time in range

Roland H Stimson, Mark W J Strachan, Shareen Forbes, Rohana J Wright, Scott D Mackenzie, Gayle McRobert, Emily M McMurray, Marcus J Lyall, Anna R Dover, Fraser W Gibb

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Ann Endocrinol (Paris). 2025 Sep;86(5):102432 · PMID: 40749787; DOI: 10.1016/j.ando.2025.102432

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025

Camille Vatier, David Araújo-Vilar, Baris Akinci, Thierry Arnould, Carine Beaupère, Elise Bismuth, Rebecca J Brown, Giovanni Ceccarini, Philippe Collas, Alessandra Gambineri, Donatella Gilio, Sharon Halperin, Sonja Janmaat, Sophie Lamothe, Giovanna Lattanzi, Margherita Maffei, Ormond A MacDougald, Héléna Mosbah, Estelle Nobecourt, Elif A Oral, Justin Rochford, Ferruccio Santini, Eric C Schirmer, Julia von Schnurbein, Robert Semple, Daniel Tews, Martin Wabitsch, Marie-Christine Vantyghem, Corinne Vigouroux

PubMed ↗

Ultrasound Med Biol. 2025 Sep;51(9):1377-1381. · PMID: 40514265; DOI: 10.1016/j.ultrasmedbio.2025.05.012

Umbilical Artery Wall Shear Stress and Control of the Feto-placental Circulation

Hoskins PR, Reynolds RM, Hunt K, Townsend R

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Mol Med. 2025 Aug;31(1):273 · PMID: 40759924; DOI: 10.1186/s10020-025-01314-2

Preclinical evaluation of candidate "kill or cure" strategies to treat MFN2-related lipodystrophy

Ineke Luijten, Xiong Weng, Ula Kibildyte, Jana Buchan, Ami Onishi, Jake Mann, Eleanor McKay, David Savage, Robert K Semple

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Bone Rep. 2025 Jul 28:26:101861 · PMID: 40837072

Experimental analysis of bone marrow adipose tissue and bone marrow adipocytes: An update from the bone marrow adiposity society (BMAS)

Michaela Tencerova, Biagio Palmisano, Stéphanie Lucas, Camille Attané, Kaisa K Ivaska, Léa Loisay, Yoshiko M Ikushima, Drenka Trivanovic, Alessandro Corsi, Adriana Roque, Hongshuai Li, Friederike Behler-Janbeck, Jeroen Geurts, Mara Riminucci, Izabela Podgorski, William P Cawthorn, Bram C J van der Eerden, André J van Wijnen

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Preprint · medRxiv. 2025 Jul 28 · DOI: 10.1101/2025.07.24.25331924

Long-term Graduate Outcomes of the First Integrated Bachelor of Medicine (MB)/Doctor of Philosophy (PhD) Programme in Europe

Ardon Pillay, Hannah Dennis, Robert Semple, Stefan Marciniak, Keith Peters, Timothy Cox

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Proc Natl Acad Sci U S A. 2025 Jul;122(29):e2420902122. · PMID: 40658837; DOI: 10.1073/pnas.2420902122

Energy expenditure and obesity across the economic spectrum

McGrosky A, Luke A, Arab L, Bedu-Addo K, Bonomi AG, Bovet P, Brage S, Buchowski MS, Butte N, Camps SG, Casper R, Cummings DK, Krupa Das S, Deb S, Dugas LR, Ekelund U, Forrester T, Fudge BW, Gillingham M, Goris AH, Gurven M, Hambly C, Joosen A, Katzmarzyk PT, Kempen KP, Kraus WE, Kriengsinyos W, Kuriyan R, Kushner RF, Lambert EV, Larsson CL, Leonard WR, Lessan N, Löf M, Martin CK, Medin AC, Neuhouser ML, Pietilainen KH, Plasqui G, Prentice RL, Racette SB, Raichlen DA, Ravussin E, Redman L, Reynolds RM, Rimm EB, Roberts S, Rosinger AY, Samuels MH, Sinha S, Snodgrass JJ, Stice E, Uauy R, Urlacher SS, Verbunt JA, Wolfe B, Wood B, Zhang X, Murphy-Alford AJ, Loechl CJ, Rood J, Sagayama H, Schoeller DA, Westerterp KR, Wong WW, Yamada Y, Speakman JR, Pontzer H, IAEA DLW Database Consortium

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EBioMedicine. 2025 Jul;117:105811. · PMID: 40532624; DOI: 10.1016/j.ebiom.2025.105811

Statistical learning to identify and characterise neurodevelopmental outcomes at 2 years in babies born preterm: model development and validation using population-level data from England and Wales

Haider S, Tsanas A, Batty GD, Reynolds RM, Whalley HC, Cox SR, Marioni RE, Battersby C, Boardman JP

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Cell Metab. 2025 Jun 3;37(6):1311-1325.e9 · PMID: 40199326

Identification of a molecular resistor that controls UCP1-independent Ca2+ cycling thermogenesis in adipose tissue

Christopher Auger, Mark Li, Masanori Fujimoto, Kenji Ikeda, Jin-Seon Yook, Timothy R O'Leary, María Paula Huertas Caycedo, Cai Xiaohan, Satoshi Oikawa, Anthony R P Verkerke, Kosaku Shinoda, Patrick R Griffin, Kenji Inaba, Roland H Stimson, Shingo Kajimura

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Graphical abstract showing C4orf3 as a molecular resistor to SERCA2b-mediated calcium transport and adipocyte thermogenesis. — Graphical abstract ↗Auger et al. (2025), Cell Metabolism. DOI: 10.1016/j.cmet.2025.03.009. CC BY 4.0.

Am J Physiol Endocrinol Metab. 2025 Jun 1;328(6):E743-E755 · PMID: 40152560

The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis

Ineke Luijten, Ami Onishi, Eleanor J McKay, Tore Bengtsson, Robert K Semple

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Graphical abstract: Hunting the energy leak in a mouse SHORT syndrome model. Pik3r1-related insulin resistance increases energy expenditure without increased brown fat uncoupling or impaired thermal insulation. — Graphical abstract ↗Luijten et al. (2025), American Journal of Physiology - Endocrinology and Metabolism. DOI: 10.1152/ajpendo.00449.2024. CC BY 4.0.

Genet Med. 2025 Jun;27(6):101404 · PMID: 40094207

Insulin receptor variants: Extending the traditional Mendelian spectrum

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J Physiol. 2025 Jun;603(11):3463-3477. · PMID: 40448705; DOI: 10.1113/jp288710

The impact of metformin on placental ageing in humans and mice

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BJOG. 2025 Jun;132(7):902-915. · PMID: 39971868; DOI: 10.1111/1471-0528.18101

Associations of Antenatal Corticosteroids With Neurodevelopment in Children Aged 27-30 Months: A Population-Based Cohort Study

Frier EM, Lahti-Pulkkinen M, Lin C, Decrue F, Zoega H, Allegaert K, Been JV, Burgner D, Duhig K, Einarsdóttir K, Florian L, Fraser A, Gissler M, Gyamfi-Bannerman C, Pedersen LH, Miller JE, Mol BW, Murray SR, Norman J, Roberts D, Schuit E, Shi T, Sheikh A, Vogel JP, Wood R, McGoldrick E, Jacobsson B, Krispin E, Reynolds RM, Stock SJ, Co‐OPT Collaboration

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RNA-binding proteins DND1 and NANOS3 cooperatively suppress the entry of germ cell lineage

Ziqi Wang, Honglin Yu, Zhaoyu Gu, Xiaohui Shi, Jiayue Ma, Qizhe Shao, Yao Yao, Shuo Yao, Yan Xu, Yashi Gu, Jiayue Dai, Qi Liu, Jingyan Shi, Rujie Qi, Yue Jin, Yuqian Liu, Xinchen Shen, Wenwen Huang, Heng-Jia Liu, Min Jin, Wanlu Liu, Matthew Brook, Di Chen

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Diabetes. 2025 May;74(5):685-688. doi: 10.2337/dbi24-0054. PMID: 40258167; PMCID: PMC12012584. · PMID: 40258167

β-Cell Benchmarks: Defining Predictive Outcomes in Islet Transplantation

Forbes S

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Sci Signal. 2025 May;18(887):eadw1245 · PMID: 40392938; DOI: 10.1126/scisignal.adw1245

Technical recommendations for analyzing oxylipins by liquid chromatography-mass spectrometry

Nils Helge Schebb, Nadja Kampschulte, Gerhard Hagn, Kathrin Plitzko, Sven W Meckelmann, Soumita Ghosh, Robin Joshi, Julia Kuligowski, Dajana Vuckovic, Marina T Botana, Ángel Sánchez-Illana, Fereshteh Zandkarimi, Aditi Das, Jun Yang, Louis Schmidt, Antonio Checa, Helen M Roche, Aaron M Armando, Matthew L Edin, Fred B Lih, Juan J Aristizabal-Henao, Sayuri Miyamoto, Francesca Giuffrida, Arieh Moussaieff, Rosário Domingues, Michael Rothe, Christine Hinz, Ujjalkumar Subhash Das, Katharina M Rund, Ameer Y Taha, Robert K Hofstetter, Markus Werner, Oliver Werz, Astrid S Kahnt, Justine Bertrand-Michel, Pauline Le Faouder, Robert Gurke, Dominique Thomas, Federico Torta, Ivana Milic, Irundika H K Dias, Corinne M Spickett, Denise Biagini, Tommaso Lomonaco, Helena Idborg, Jun-Yan Liu, Maria Fedorova, David A Ford, Anne Barden, Trevor A Mori, Paul D Kennedy, Kirk Maxey, Julijana Ivanisevic, Hector Gallart-Ayala, Cécile Gladine, Markus Wenk, Jean-Marie Galano, Thierry Durand, Ken D Stark, Coral Barbas, Ulrike Garscha, Stacy L Gelhaus, Uta Ceglarek, Nicolas Flamand, Julian L Griffin, Robert Ahrends, Makoto Arita, Darryl C Zeldin, Francisco J Schopfer, Oswald Quehenberger, Randall Julian, Anna Nicolaou, Ian A Blair, Michael P Murphy, Bruce D Hammock, Bruce Freeman, Gerhard Liebisch, Charles N Serhan, Harald C Köfeler, Per-Johan Jakobsson, Dieter Steinhilber, Michael H Gelb, Michal Holčapek, Ruth Andrew, Martin Giera, Garret A FitzGerald, Robert C Murphy, John W Newman, Edward A Dennis, Kim Ekroos, Ginger L Milne, Miguel A Gijón, Hubert W Vesper, Craig E Wheelock, Valerie B O'Donnell

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Endocr Connect. 2025 May;14(5):e240638 · PMID: 40132139; DOI: 10.1530/ec-24-0638

Luteal phase oral dexamethasone administration alters endometrial steroid milieu

Natalie Z M Homer, Moira Nicol, Mayank Madhra, Gregorio Naredo-Gonzalez, Sofia Laforest, Ov D Slayden, Stephen G Hillier, Brian R Walker, Pamela Warner, Ruth Andrew, Hilary O D Critchley

PubMed ↗

Stud Health Technol Inform. 2025 May;327:944-948. · PMID: 40380618; DOI: 10.3233/shti250511

User Needs Assessment for Gestational Diabetes Care and Management Digital Tool: A Qualitative Study

Kirkwood JR, Dickson J, Manataki A, Lindsay RS, Wake DJ, Reynolds RM

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J Steroid Biochem Mol Biol. 2025 Apr;248:106691. · PMID: 39921041; DOI: 10.1016/j.jsbmb.2025.106691

Determination of steroid reference intervals in a pregnancy population

Lahti-Pulkkinen M, Räikkönen K, Basiukajc A, Lee P, Denham SG, Simpson JP, Villa P, Hämäläinen E, Laivuori H, Kajantie E, Heinonen K, Girchenko P, Reynolds RM, Homer NZ

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Diabet Med. 2025 Mar;42(3):e15465. · PMID: 39497535; DOI: 10.1111/dme.15465

Omnipod 5 outcomes comparing Dexcom G6 and Freestyle Libre 2 plus users in adults with type 1 diabetes

Stimson RH, Dover AR, Lyall MJ, Kyle CJ, Wright RJ, McRobert G, Strachan MWJ, Gibb FW

PubMed ↗

Lancet Diabetes Endocrinol. 2025 Mar;13(3):210-220. · PMID: 39884300; DOI: 10.1016/s2213-8587(24)00340-1

Automated insulin delivery during the first 6 months postpartum (AiDAPT): a prespecified extension study

Lee TTM, Collett C, Bergford S, Hartnell S, Scott EM, Lindsay RS, Hunt KF, McCance DR, Reynolds RM, Wilinska ME, Sibayan J, Kollman C, Hovorka R, Murphy HR, AiDAPT Collaborative Group

PubMed ↗

J Clin Endocrinol Metab. 2025 Feb 19:dgaf103 · PMID: 39970125

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy

Rebecca J Brown et al.

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Int J Exp Pathol. 2025 Feb;106(1):e12523 · PMID: 39713922

Review of methodology and re-analysis of lipidomic data focusing on specialised pro-resolution lipid mediators (SPMs) in a human model of resolving inflammation.

Natalie Z M Homer, Ruth Andrew, Derek W Gilroy.

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BMC Psychiatry. 2025 Feb;25(1):122. · PMID: 39948527; DOI: 10.1186/s12888-025-06579-9

Metabolic biomarkers of clinical outcomes in severe mental illness (METPSY): protocol for a prospective observational study in the Hub for metabolic psychiatry

Rakshasa-Loots AM, Steyn C, Swiffen D, Marwick KFM, Semple RK, Reynolds RM, Burgess K, Lawrie SM, Lightman SL, Luz S, Smith DJ

PubMed ↗

Cardiovasc Diabetol. 2025 Jan 24;24(1):39 · PMID: 39856754

Obesity-induced mesenteric PVAT remodelling is sexually dimorphic, but not driven by ovarian hormones

Lisa Ivatt, Mhairi Paul, Allende Miguelez-Crespo, Patrick W. F. Hadoke, Matthew A. Bailey, Ruth A. Morgan & Mark Nixon.

Pubmed Link ↗

Graphical abstract showing sex-specific mesenteric perivascular adipose tissue remodelling and vascular dysfunction in diet-induced obesity. — Graphical abstract ↗Ivatt et al. (2025), Cardiovascular Diabetology. DOI: 10.1186/s12933-025-02596-w. CC BY 4.0.

Nat Communications. 2025 Jan 9;16(1):545 · PMID: 39788946

The NE/AAT/CBG axis regulates adipose glucocorticoid exposure.

Luke D Boyle, Allende Miguelez-Crespo, Mhairi Paul, Elisa Villalobos, Julia NC Toews, Lisa Ivatt, Boglarka Nagy, Marisa Magennis, Natalie ZM Homer, Ruth Andrew, Victor Viau, Geoffrey L Hammond, Roland H Stimson, Brian R Walker & Mark Nixon.

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Nat Communications. 2025 Jan 2;16(1):99 · PMID: 39747859

Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank

Wei Xu, Ines Mesa-Eguiagaray, David M. Morris, Chengjia Wang, Calum D. Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Xue Li, Paul R. H. J. Timmers, Maria Timofeeva, Susan M. Farrington, Malcolm G. Dunlop, Scott I. Semple, Tom MacGillivray, Evropi Theodoratou & William P. Cawthorn.

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Talanta. 2025 Jan 1:282:126954. · PMID: 39423636

Spatial lipidomic profiles of atherosclerotic plaques: A mass spectrometry imaging study.

Sphamandla Ntshangase, Shazia Khan, Louise Bezuidenhout, Taťána Gazárková, Jakub Kaczynski, Stephanie Sellers, Nicholas Jw Rattray, David E Newby, Patrick Wf Hadoke, Ruth Andrew

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Diabetes Obes Metab. 2025 Jan;27(1):419-421. doi: 10.1111/dom.16003. PMID: 39387171; PMCID: PMC11618312 · PMID: 39387171

Change in glycated haemoglobin in adults with type 2 diabetes on basal-bolus insulin regimens following commencement of Freestyle Libre use

Dover AR, Wright RJ, Forbes S, Strachan MWJ, Stimson RH, Gibb FW

PubMed ↗

Epidemiol Rev. 2025 Jan;47(1):mxaf011. · PMID: 40643383; DOI: 10.1093/epirev/mxaf011

Socioeconomic status and depression-a systematic review

Jespersen A, Madden RA, Whalley HC, Reynolds RM, Lawrie SM, McIntosh AM, Iveson MH

PubMed ↗

J Appl Physiol (1985). 2025 Jan;138(1):13-21. · PMID: 39589823; DOI: 10.1152/japplphysiol.00691.2024

Sex-related hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal axis adaptation during military training

Gifford RM, O'Leary TJ, Knight RL, Wardle SL, Doig CL, Anderson RA, Greeves JP, Reynolds RM, Woods DR

PubMed ↗

Front. Cardiovasc. Med., 21 July 2025 · PMID:

Nutrient restriction protects against valve interstitial cell calcification by upregulating ubiquitin mediated proteolysis

K. Phadwal, Q.Tang, D. Kurian, X. Tan, W.P. Cawthorn, V.E. MacRae

DOI Link ↗

Diabetes, In Press, Feb 2025 · PMID: TBC

Functional Beta Cell Mass >40% Predicts Long Term Insulin Independence to 6 Years Following Human Islet Transplantation: Lessons to Guide Clinical Practice.

Shareen Forbes.

Article link not supplied on the current site

Diabetes. EMJ Diabetes. 2025; 13[1]:24-29. https://doi.org/10.33590/emjdiabet/HYFI5286. · DOI: 10.33590/emjdiabet/HYFI5286

The Convergence of Curative Strategies: Islet Replacement, Tolerance Induction, and the Path Beyond Immunosuppression in Type 1

Forbes S

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Essays Biochem. 2024 Dec 4;68(4):467-478 · PMID: 39290133

Quantification of persulfidation on specific proteins: are we nearly there yet?

Hongling Liu, Florentina Negoita, Matthew Brook, Kei Sakamoto, Nicholas M Morton

Pubmed Link ↗

Diabet Med. 2024 Dec;41(12):e15453. doi: 10.1111/dme.15453. PMID: 39392870. · PMID: 39392870

Outcomes after 1 year in adults using Omnipod 5: Real-world data from a UK diabetes centre

Stimson RH, Strachan MWJ, Dover AR, Wright RJ, Forbes S, McRobert G, Gibb FW

PubMed ↗

Eur J Endocrinol. 2024 Nov 27;191(6):535-544 · PMID: 39546623

Proof of concept for a superior therapeutic index of corticosterone compared with hydrocortisone in patients with congenital adrenal hyperplasia.

Catriona J Kyle, Luke D Boyle, Mark Nixon, Natalie ZM Homer, Joanna P Simpson, Alison Rutter, Lynne E Ramage, Alex Kelman, Ellen M Freel, Ruth Andrew, Brian R Walker, Roland H Stimson.

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Nat Metab. 2024 Nov 22. · PMID: 39578648

ACBP orchestrates the metabolic phenotype in Cushing's syndrome.

Mhairi Paul & Mark Nixon.

Pubmed Link ↗

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Lancet Diabetes Endocrinol. 2024 Nov;12(11):782-784. · PMID: 39178874

Closed-loop systems: a bridge to cell therapy for type 1 diabetes?

Sufyan Hussain, Katarina Braune, Shareen Forbes, Peter A Senior.

Pubmed Link ↗

Lancet Diabetes Endocrinol. 2024 Oct;12(10):683-685. · PMID: 39250919

Islet transplantation in kidney transplant recipients with type 1 diabetes.

Shareen Forbes, Thomas W H Kay

Pubmed Link ↗

BMJ Open. 2024 Sep 16;14(9):e085365. · PMID: 39284691

Preterm birth as a determinant of neurodevelopment and cognition in children (PRENCOG): protocol for an exposure-based cohort study in the UK.

James P Boardman, Ruth Andrew, Mark E Bastin, Cheryl Battersby, G David Batty, Manuel Blesa Cábez, Simon R Cox, Jill Hall, Lauren Ingledow, Riccardo E Marioni, Neena Modi, Lee Murphy, Alan J Quigley, Rebecca M Reynolds, Hilary Richardson, Sarah J Stock, Michael J Thrippleton, Athanasios Tsanas, Heather C Whalley

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PLoS One. 2024 Jun 14;19(6):e0297601 · PMID: 38875308

A cross-sectional questionnaire study: Impaired awareness of hypoglycaemia remains prevalent in adults with type 1 diabetes and is associated with the risk of severe hypoglycaemia

Faye Baxter, Nicola Baillie, Anna Dover, Roland H Stimson, Fraser Gibb, Shareen Forbes.

Pubmed Link ↗

J Endocrinol. 2024 Jun 1:JOE-24-0024. · PMID: 38829241

ATP-binding cassette family C member 1 constrains metabolic responses to high-fat diet.

Elisa Villalobos, Allende Miguelez-Crespo, Ruth A Morgan, Lisa Ivatt, Mhairi Paul, Joanna P Simpson, Natalie ZM Homer, Dominic Kurian, Judit Aguilar, Rachel Kline, T Wishart, Nicholas Morton, Roland H Stimson, Ruth Andrew, Brian R Walker, Mark Nixon.

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Mol Metab. 2024 Jun:84:101933 · PMID: 38583571

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome.

Eleanor J McKay, Ineke Luijten, Xiong Weng, Pablo B Martinez de Morentin, Elvira De Frutos González, Zhanguo Gao, Mikhail G Kolonin, Lora K Heisler, Robert K Semple.

Pubmed Link ↗

Dis Model Mech. 2024 May 17 · PMID: 38756069

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy.

Eleanor J McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A Gray , Robert K Semple.

Pubmed Link ↗

Immunol Rev. 2024 May 8. · PMID: 38717136

Fat-associated lymphoid clusters: Supporting visceral adipose tissue B cell function in immunity and metabolism

Alexander D Daley, Cécile Bénézech.

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J Endocrinol. 2024 May 1:JOE-24-0072. · PMID: 38805506

Deletion of Hsd11b1 suppresses caloric-restriction-induced bone marrow adiposity in male but not female mice.

Andrea Lovdel, Karla Suchacki, Fiona Roberts, Richard J Sulston, Robert J Wallace, Benjamin J Thomas, Rachel M B Bell, Iris Pruñonosa Cervera, Gavin Macpherson, Nicholas Morton, Natalie ZM Homer, Karen E Chapman, William P Cawthorn.

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BJOG. 2024 May;131(6):858-868 · PMID: 37968246

Impact of COVID-19 on gestational diabetes pregnancy outcomes in the UK: A multicentre retrospective cohort study

Niamh-Maire Mclennan, Robert Lindsay, Ponnusamy Saravanan, Nithya Sukumar, Sara L White, Peter von Dadelszen, Christy Burden, Kathryn Hunt, Priya George, Jane E Hirst, Katherine Lattey, Tara T M Lee, Helen R Murphy, Eleanor M Scott, Laura A Magee, Rebecca M Reynolds; Diabetes in Pregnancy Working Group.

Pubmed Link ↗

Br J Pharmacol. 2024 Apr;181(8):1256-1267. · PMID: 37990638

5α-Tetrahydrocorticosterone: A topical anti-inflammatory glucocorticoid with an improved therapeutic index in a murine model of dermatitis

Dawn EW Livingstone, Karen Sooy, Catherine Sykes, Scott P Webster, Brian R Walker, Ruth Andrew 1

Pubmed Link ↗

Visual abstract for 5α-Tetrahydrocorticosterone: A topical anti-inflammatory glucocorticoid with an improved therapeutic index in a murine model of dermatitis — Visual abstract ↗

Clin Endocrinol (Oxf). 2024 Apr;100(4):317-327. · PMID: 38229583

Plasma steroid concentrations reflect acute disease severity and normalise during recovery in people hospitalised with COVID-19

Kerri Devine, Clark D Russell, Giovanny R Blanco, Brian R Walker, Natalie ZM Homer, Scott G Denham, Joanna P Simpson , Olivia C Leavy, Omer Elneima, Hamish J C McAuley, Aarti Shikotra, Amisha Singapuri, Marco Sereno, Ruth M Saunders , Victoria C Harris, Linzy Houchen-Wolloff, Neil J Greening, Nazir I Lone, Mathew Thorpe, William Greenhalf, James D Chalmers, Ling-Pei Ho, Alex Horsley, Michael Marks, Betty Raman, Shona C Moore, Jake Dunning, Malcolm G Semple, Ruth Andrew, Louise V Wain, Rachael A Evans, Christopher E Brightling, John Kenneth Baillie, Rebecca M Reynolds; ISARIC4C Investigators and PHOSP-COVID Study Collaborative Group.

Pubmed Link ↗

Diabet Med. 2024 Feb;41(2):e15257. · PMID: 37968808

Insulin independence following islet transplantation improves long-term metabolic outcomes

Adam K Stanley, Kirsty Duncan, Debbie Anderson, Lora Irvine, Andrew Sutherland, Shareen Forbes, John Casey.

Pubmed Link ↗

Endocrine Connections, 13(5), e230285. Retrieved Apr 9, 2024, from https://doi.org/10.1530/EC-23-0285 · DOI: 10.1530/EC-23-0285

Society for Endocrinology guidelines for the diagnosis and management of post-bariatric hypoglycaemia

Hazlehurst J, Khoo B, Lobato C.B, Ilesanmi I, Abbott S, Chan T, Pillai S, Maslin K, Purkayastha S, McGowan B, Andrews R, Nicholson E, McCullough K, Albon L, Batterham R, Dimitriaidis GK, Forbes S, Bewick G, & Tan TM

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eLife. 2024 [in press]

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

Tomlinson PR, Knox R, Perisic O, Su HC, Brierley GV, Williams RL, Semple RK

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Comput Struct Biotechnol J. 2023 Dec 27:24:89-104. · PMID: 38268780

A novel deep learning method for large-scale analysis of bone marrow adiposity using UK Biobank Dixon MRI data

David M Morris, Chengjia Wang, Giorgos Papanastasiou, Calum D Gray, Wei Xu, Samuel Sjöström, Sammy Badr, Julien Paccou, Scott Semple, Tom MacGillivray, William P Cawthorn.

Pubmed Link ↗

Graphical abstract of a deep learning method for quantifying bone marrow adipose tissue in UK Biobank Dixon MRI data. — Graphical abstract ↗Morris et al. (2024), Computational and Structural Biotechnology Journal. DOI: 10.1016/j.csbj.2023.12.029. CC BY 4.0.

EClinicalMedicine. 2023 Dec 13;67:102333. doi: 10.1016/j.eclinm.2023.102333. PMID: 38169703; PMCID: PMC10758748. · PMID: 38169703

Islet transplantation outcomes in type 1 diabetes and transplantation of HLA-DQ8/DR4: results of a single-centre retrospective cohort in Canada

Forbes S, Halpin A, Lam A, Grynoch D, Parker R, Hidalgo L, Bigam D, Anderson B, Dajani K, Kin T, O'Gorman D, Senior PA, Campbell P, Shapiro AMJ

PubMed ↗

Diabetes Obes Metab. 2023 Dec;25(12):3529-3537. doi: 10.1111/dom.15248. Epub 2023 Aug 30. PMID: 37646197. · PMID: 37646197

Beta-cell death and dysfunction drives hyperglycaemia in organ donors

Shapey IM, Summers A, O'Sullivan J, Fullwood C, Hanley NA, Casey J, Forbes S, Rosenthal M, Johnson PRV, Choudhary P, Bushnell J, Shaw JAM, Neiman D, Shemer R, Glaser B, Dor Y, Augustine T, Rutter MK, van Dellen D

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Diabet Med. 2023 Dec;40(12):e15192. doi: 10.1111/dme.15192. Epub 2023 Aug 17. PMID: 37531444. · PMID: 37531444

Ultrasound-guided hepatic portal vein injection is not a reproducible technique for delivery of cell therapies to the liver in mice

Walker SL, Noble J, Thomson A, Moran CM, Mellis D, Lee IN, White LJ, Forbes S

PubMed ↗

Orphanet J Rare Dis. 2023 Nov 16;18(1):360. [*co-corresponding]

An expanded clinical spectrum of hypoinsulinemic hypoketotic hypoglycaemia

Welters A, Leiter SM, Bachmann N, Bergmann C, Hoermann H, Korsch E, Meissner T, Payne F, Williams R, Hussain K, Semple RK*, Kummer S*

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Nat Commun. 2023 Nov 3;14(1):7070. PMID: 37923768 · PMID: 37923768

IL-17 signalling is critical for controlling subcutaneous adipose tissue dynamics and parasite burden during chronic murine Trypanosoma brucei infection

Sinton MC, Chandrasegaran PRG, Capewell P, Cooper A, Girard A, Ogunsola J, Perona-Wright G, M Ngoyi D, Kuispond N, Bucheton B, Camara M, Kajimura S, Bénézech C, Mabbott NA, MacLeod A, Quintana JF

PubMed ↗

Diabet Med. 2023 Nov;40(11):e15194

Diagnosis and treatment of anti-insulin antibody-mediated labile glycaemia in insulin-treated diabetes

Church DS, Barker P, Burling KA, Shinwari SK, Kennedy C, Smith D, Macfarlane DP, Kernohan A, Stears A, Karamat MA, Whyte K, Narendran P, Halsall DJ, Semple RK

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Commun Med (Lond). 2023 Oct 5;3(1):134

Genotype-stratified treatment for monogenic insulin resistance: a systematic review

Semple RK, Patel KA, Auh S; ADA/EASD PMDI; Brown RJ

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Diabet Med. 2023 Oct;40(10):e15111. doi: 10.1111/dme.15111. Epub 2023 Apr 21. PMID: 37035965. · PMID: 37035965

Non-invasive imaging of functional pancreatic islet beta-cell mass in people with type 1 diabetes mellitus

Joshi SS, Singh T, Kershaw LE, Gibb FW, Dweck MR, Williams M, Idris I, Semple S, Forbes S, Newby DE, Reynolds RM

PubMed ↗

Front Endocrinol (Lausanne). 2023 Jul 19;14:1251897. · PMID: 37538788

Steroid hormone receptors in cardiometabolic disease

Goodwin J, Odermatt A, Morgan RA, Nixon M

PubMed ↗

Cardiovasc Res. 2023 Jul 6;119(8):1740-1750. · PMID: 36368681

High salt intake activates the hypothalamic-pituitary-adrenal axis, amplifies the stress response, and alters tissue glucocorticoid exposure in mice

Costello HM, Krilis G, Grenier C, Severs D, Czopek A, Ivy JR, Nixon M, Holmes MC, Livingstone DEW, Hoorn EJ, Dhaun N, Bailey MA

PubMed ↗

Lancet Diabetes Endocrinol. 2023 Jun;11(6):376-377. doi: 10.1016/S2213-8587(23)00090-6. Epub 2023 Apr 24. PMID: 37105209. · PMID: 37105209

BETA-2 score at 28 days after islet allogeneic transplantation in type 1 diabetes for predicting 5-year outcomes

Forbes S

PubMed ↗

Elife. 2023 Feb 1;12:e82283. doi: 10.7554/eLife.82283. · DOI: 10.7554/eLife.82283

A mouse model of human mitofusin 2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion

Mann JP, Duan X, Patel S, Alvarez-Guaita A, Haider A, Luijten I, Page M, Scurria F, Protasoni M, Tábara LC, Lim K, Virtue S, O’Rahilly S, Armstrong M, Prudent J, *Semple RK, *Savage DB

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Nat Rev Endocrinol. 2023 Feb;19(2):112-124. · PMID: 36221036

The ATP-binding cassette proteins ABCB1 and ABCC1 as modulators of glucocorticoid action

Devine K, Villalobos E, Kyle CJ, Andrew R, Reynolds RM, Stimson RH, Nixon M, Walker BR

PubMed ↗

eLife 2023; 12:e88080. · PMID: 37096321

The effects of caloric restriction on adipose tissue and metabolic health are sex- and age-dependent

Suchacki KJ, Thomas BJ, Ikushima YM, Chen KC, Fyfe C, Tavares AAS, Sulston RJ, Lovdel A, Woodward HJ, Han X, Mattiucci D, Brain EJ, Alcaide-Corral CJ, Kobayashi H, Gray GA, Whitfield PD, Stimson RH , Morton NM, Johnstone AM and Cawthorn WP

PubMed ↗

Br. J. Haematol. 2023 · PMID: 37067783

Turning the spotlight on Bone Marrow adipocytes: in haematological malignancy and non-malignant conditions

Austin MJ, Kalampalika F, Cawthorn WP and Patel B

PubMed ↗

BMJ Open. 2022 Dec 20;12(12):e054958. doi: 10.1136/bmjopen-2021-054958. PMID: 36600427; PMCID: PMC9772676. · PMID: 36600427

Study protocol: a randomised controlled proof-of-concept real-world study - does maximising time in range using hybrid closed loop insulin delivery and a low carbohydrate diet restore the glucagon response to hypoglycaemia in adults with type 1 diabetes?

Baxter F, Baillie N, Forbes S

PubMed ↗

J Clin Endocrinol Metab. 2022 Nov 23;107(11):e4326-e4327. doi: 10.1210/clinem/dgac475. PMID: 35961312; PMCID: PMC9681616. · PMID: 35961312

Insulin Resistance and Adrenal Androgen Synthesis Viewed Through a Monogenic Lens

Semple RK

PubMed ↗

Endocrinology. 2022 Oct 11;163(11):bqac152. · PMID: 36112420

Corticosteroid-binding Globulin (SERPINA6) Establishes Postpubertal Sex Differences in Rat Adrenal Development

Toews JNC, Philippe TJ, Hill LA, Dordevic M, Miguelez-Crespo A, Homer NZM, Nixon M, Hammond GL, Viau V

PubMed ↗

J Clin Lipidol. 2022 Sep- Oct;16(5):583-590. doi: 10.1016/j.jacl.2022.06.004. Epub 2022 Jun 19. PMID: 35780059. [*co-corresponding] · PMID: 35780059

Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome

Atallah I, McCormick D, Good JM, Barigou M, Fraga M, Sempoux C, Superti-Furga A, Semple RK*, Tran C*

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Transpl Int. 2022 Jul 6;35:10335. doi: 10.3389/ti.2022.10335. PMID: 35874309; PMCID: PMC9301872. · PMID: 35874309

Estimation of Early Graft Function Using the BETA-2 Score Following Clinical Islet Transplantation

Lam A, Oram RA, Forbes S, Olateju T, Malcolm AJ, Imes S, Shapiro AMJ, Senior PA

PubMed ↗

Trends Mol Med. 2022 Mar 7:S1471-4914(22)00050-8. doi: 10.1016/j.molmed.2022.02.009. Online ahead of print. · DOI: 10.1016/j.molmed.2022.02.009

PIK3CA-related overgrowth: silver bullets from the cancer arsenal?

Madsen RR, Semple RK

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Eur J Endocrinol. 2022 Mar 1:EJE-21-0609. doi: 10.1530/EJE-21-0609. Online ahead of print. · DOI: 10.1530/EJE-21-0609

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM

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Metabolism. 2022 Mar;128:155118. · PMID: 34990712

ABCC1 modulates negative feedback control of the hypothalamic-pituitary-adrenal axis in vivo in humans

Kyle CJ, Nixon M, Homer NZM, Morgan RA, Andrew R, Stimson RH, Walker BR

PubMed ↗

Am J Transplant. 2022 Jan;22(1):154-164. doi: 10.1111/ajt.16785. Epub 2021 Aug 22. PMID: 34355503; PMCID: PMC9292186. · PMID: 34355503

The impact of islet mass, number of transplants, and time between transplants on graft function in a national islet transplant program

Forbes S, Flatt AJ, Bennett D, Crookston R, Pimkova M, Birtles L, Pernet A, Wood RC, Burling K, Barker P, Counter C, Lumb A, Choudhary P, Rutter MK, Rosenthal M, Sutherland A, Casey J, Johnson P, Shaw JAM

PubMed ↗

Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. · DOI: 10.1111/cge.14027

A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement

Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere M-C, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, de Wit M-CY, Graham JM, Clayton-Smith J, Mirzaa GM, Biesecker LG

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Diabetologia 2022 (in press)

Achievements, Prospects and Challenges in Precision Care for Monogenic Insulin-Deficient and Insulin-Resistant Diabetes

Bonnefond A, Semple RK

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Genet Med. 2021 Dec;23(12):2433-2442. doi: 10.1038/s41436-021-01290-y. · DOI: 10.1038/s41436-021-01290-y

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and KLIPPEL TRENAUNAY SYNDROME (KTS): the TOTEM trial, a phase 1/2 multicentre, open-label, single-arm study

Luu M, Vabres P, Devilliers H, Loffroy R, Phan A, Martin L, Morice-Picard F, Petit F, Willems M, Bessis D, Jacquemont ML, Maruani A, Chiaverini C, Mirault T, Clayton-Smith J, Carpentier M, Fleck C, Maurer A, Yousfi M, Parker VER, Semple RK, Bardou M, Faivre L

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PLoS Genetics, 2021 Nov 11;17(11):e1009876. doi: 10.1371/journal.pgen.1009876 · DOI: 10.1371/journal.pgen.1009876

Positive correlation between transcriptomically-inferred stemness and PI3K/AKT/mTOR signalling scores in breast cancer, and a counterintuitive relationship with PIK3CA genotype

Madsen RR, Erickson EC, Rueda OM, Robin X, Caldas C, Toker A, Semple RK, Vanhaesebroeck B

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Disease Models and Mechanisms Dis Model Mech. 2021 Nov 1;14(11):dmm049340. doi: 10.1242/dmm.049340. Epub 2021 Nov 29. · DOI: 10.1242/dmm.049340

Insulin at 100 years – is rebalancing its action key to fighting obesity-related disease?

Brierley GV, Semple RK

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Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. · DOI: 10.1038/s41436-021-01211-z

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA

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Am J Transplant. 2021 Sep;21(9):2950-2963. doi: 10.1111/ajt.16488. Epub 2021 Feb 2. PMID: 33428803; PMCID: PMC8603932. · PMID: 33428803

Fibroblast growth factor 7 releasing particles enhance islet engraftment and improve metabolic control following islet transplantation in mice with diabetes

Alwahsh SM, Qutachi O, Starkey Lewis PJ, Bond A, Noble J, Burgoyne P, Morton N, Carter R, Mann J, Ferreira-Gonzalez S, Alvarez-Paino M, Forbes SJ, Shakesheff KM, Forbes S

PubMed ↗

Nat Commun. 2021 Jul 21;12(1):4434. PMID: 34290249 · PMID: 34290249

Role of Tim4 in the regulation of ABCA1+ adipose tissue macrophages and post-prandial cholesterol levels

Magalhaes MS, Smith P, Portman JR, Jackson-Jones LH, Bain CC, Ramachandran P, Michailidou Z, Stimson RH, Dweck MR, Denby L, Henderson NC, Jenkins SJ, Bénézech C

PubMed ↗

Publication figure for Role of Tim4 in the regulation of ABCA1+ adipose tissue macrophages and post-prandial cholesterol levels — Research figure ↗

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2367-2383. doi: 10.1210/clinem/dgab275 · DOI: 10.1210/clinem/dgab275

Ovarian hyperandrogenism and its response to gonadotropin-releasing hormone analogue therapy in primary severe insulin resistance

Huang-Doran I, Kinzer AB, Jimenez-Linan M, Thackray K, Harris J, Adams CL, de Kerdanet M, Stears A, O’Rahilly S, Savage DB, Gorden P, Brown RJ, Semple RK

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Diabet Med. 2021 Jul;38(7):e14570. doi: 10.1111/dme.14570. Epub 2021 May 3. PMID: 33780027. · PMID: 33780027

Effects of islet transplantation on microvascular and macrovascular complications in type 1 diabetes

Reid L, Baxter F, Forbes S

PubMed ↗

Am J Transplant. 2021 Jul;21(7):2619. doi: 10.1111/ajt.16551. Epub 2021 Mar 8. PMID: 33624356; PMCID: PMC8359165. · PMID: 33624356

The BETA-2 score web app calculator: https://www.beta2score.com/ for assessment of graft function following islet transplantation

Forbes S

PubMed ↗

Am J Transplant. 2021 Mar;21(3):1027-1038. doi: 10.1111/ajt.16285. Epub 2020 Sep 19. PMID: 32865886. · PMID: 32865886

Autoreactive T cell profiles are altered following allogeneic islet transplantation with alemtuzumab induction and re-emerging phenotype is associated with graft function

Sabbah S, Liew A, Brooks AM, Kundu R, Reading JL, Flatt A, Counter C, Choudhary P, Forbes S, Rosenthal MJ, Rutter MK, Cairns S, Johnson P, Casey J, Peakman M, Shaw JA, Tree TIM

PubMed ↗

Orphanet J Rare Dis. 2021 Feb 27;16(1):109.

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V

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Dis Model Mech. 2021 Jan 28;14(3):dmm048298. doi: 10.1242/dmm.048298. · DOI: 10.1242/dmm.048298

NODAL/TGFbeta signalling mediates the self-sustained stemness induced by PIK3CAH1047R homozygosity in pluripotent stem cells

Madsen RR, Longden J, Knox RG, Robin X, Völlmy F, Macleod KG, Moniz LS, Carragher NO, Linding R, Vanhaesebroeck B, Semple RK

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J Am Soc Nephrol. 2020 Dec;31(12):2833-2854. PMID: 32978267 · PMID: 32978267

Kidney Single-Cell Atlas Reveals Myeloid Heterogeneity in Progression and Regression of Kidney Disease

Conway BR, O'Sullivan ED, Cairns C, O'Sullivan J, Simpson DJ, Salzano A, Connor K, Ding P, Humphries D, Stewart K, Teenan O, Pius R, Henderson NC, Bénézech C, Ramachandran P, Ferenbach D, Hughes J, Chandra T, Denby L

PubMed ↗

Cytotherapy. 2020 Dec;22(12):762-771. doi: 10.1016/j.jcyt.2020.07.010. Epub 2020 Aug 20. PMID: 32828673. · PMID: 32828673

Pancreas-derived mesenchymal stromal cells share immune response-modulating and angiogenic potential with bone marrow mesenchymal stromal cells and can be grown to therapeutic scale under Good Manufacturing Practice conditions

Thirlwell KL, Colligan D, Mountford JC, Samuel K, Bailey L, Cuesta-Gomez N, Hewit KD, Kelly CJ, West CC, McGowan NWA, Casey JJ, Graham GJ, Turner ML, Forbes S, Campbell JDM

PubMed ↗

Diabetes. 2020 Nov;69(11):2481-2489. doi: 10.2337/db20-0345. · DOI: 10.2337/db20-0345

Anti-Insulin Receptor Antibodies Improve Hyperglycemia in a Mouse Model of Human Insulin Receptoropathy

Brierley GV, Webber H, Rasijeff E, Grocott S, Siddle K, Semple RK

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Diabetes Obes Metab. 2020 Oct;22(10):1874-1879. doi: 10.1111/dom.14088. Epub 2020 Jun 14. PMID: 32452110. · PMID: 32452110

Donor insulin use predicts beta-cell function after islet transplantation

Shapey IM, Summers A, Yiannoullou P, Khambalia H, Fullwood C, Hanley NA, Casey J, Forbes S, Rosenthal M, Johnson PR, Choudhary P, Bushnell J, Shaw JAM, Augustine T, Rutter MK, van Dellen D

PubMed ↗

Mol Metab. 2020 Oct;40:101020. doi: 10.1016/j.molmet.2020.101020. · DOI: 10.1016/j.molmet.2020.101020

Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidemia by increased energy expenditure

Kwok A, Zvetkova I, Virtue S, Luijten I, Isabel Huang-Doran I, Tomlinson P, Bulger DA, West J, Murfitt S, Griffin J, Alam R, Hart D, Knox R, Voshol P, Vidal-Puig A, Jensen J, O’Rahilly S, Semple RK

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Eur J Endocrinol. 2020 Aug;183(2):G67-G77

ENDOCRINOLOGY IN THE TIME OF COVID-19: Remodelling diabetes services and emerging innovation

Wake DJ, Gibb FW, Kar P, Kennon B, Klonoff DC, Rayman G, Rutter MK, Sainsbury C, Semple RK

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Sci Immunol. 2020 Jun 19;5(48):eabc4466. PMID: 32561560 · PMID: 32561560

Rate of replenishment and microenvironment contribute to the sexually dimorphic phenotype and function of peritoneal macrophages

Bain CC, Gibson DA, Steers NJ, Boufea K, Louwe PA, Doherty C, González-Huici V, Gentek R, Magalhaes-Pinto M, Shaw T, Bajénoff M, Bénézech C, Walmsley SR, Dockrell DH, Saunders PTK, Batada NN, Jenkins SJ

PubMed ↗

Curr Opin Immunol. 2020 Jun;64:42-49. PMID: 32353646 · PMID: 32353646

FALC stromal cells define a unique immunological niche for the surveillance of serous cavities

Jackson-Jones LH, Bénézech C

PubMed ↗

Publication figure for FALC stromal cells define a unique immunological niche for the surveillance of serous cavities — Research figure ↗

Nat Commun. 2020 Jun;11(1):2797. · PMID: 32493999; DOI: 10.1038/s41467-020-16592-z

RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro

Loh NY, Minchin JEN, Pinnick KE, Verma M, Todorčević M, Denton N, Moustafa JE, Kemp JP, Gregson CL, Evans DM, Neville MJ, Small KS, McCarthy MI, Mahajan A, Rawls JF, Karpe F, Christodoulides C

PubMed ↗

Sci Rep. 2020 May 4;10(1):7490. doi: 10.1038/s41598-020-64136-8. · DOI: 10.1038/s41598-020-64136-8

Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes

Goh KJ, Chen JH, Rocha N, Semple RK

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Immunity. 2020 Apr 14;52(4):700-715.e6. PPMID: 32294409 · PMID: 32294409

Stromal Cells Covering Omental Fat-Associated Lymphoid Clusters Trigger Formation of Neutrophil Aggregates to Capture Peritoneal Contaminants

Jackson-Jones LH, Smith P, Portman JR, Magalhaes MS, Mylonas KJ, Vermeren MM, Nixon M, Henderson BEP, Dobie R, Vermeren S, Denby L, Henderson NC, Mole DJ, Bénézech C

PubMed ↗

Publication figure for Stromal Cells Covering Omental Fat-Associated Lymphoid Clusters Trigger Formation of Neutrophil Aggregates to Capture Peritoneal Contaminants — Research figure ↗

Sci Transl Med. 2020 Jan 15;12(526):eaan5907. doi: 10.1126/scitranslmed.aan5907. PMID: 31941825. · PMID: 31941825

Human umbilical cord perivascular cells improve human pancreatic islet transplant function by increasing vascularization

Forbes S, Bond AR, Thirlwell KL, Burgoyne P, Samuel K, Noble J, Borthwick G, Colligan D, McGowan NWA, Lewis PS, Fraser AR, Mountford JC, Carter RN, Morton NM, Turner ML, Graham GJ, Campbell JDM

PubMed ↗

Nat. Commun. 2020; 11(1):3097. · PMID: 32555194

Bone marrow adipose tissue is a unique adipose subtype with distinct roles in glucose homeostasis

Suchacki KJ, Tavares AAS, Mattiucci D, Scheller EL, Papanastasiou G, Gray C, Sinton MC, Ramage LE, McDougald WA, Lovdel A, Sulston RJ, Thomas BJ, Nicholson BM, Drake AJ, Alcaide-Corral CJ, Said D, Poloni A, Cinti S, Macpherson GJ, Dweck MR, Andrews JPM, Williams MC, Wallace RJ, van Beek EJR, MacDougald OA, Morton NM, Stimson RH and Cawthorn WP

PubMed ↗

In: Zaidi M, ed. Encyclopedia of Bone Biology. Oxford, UK: Oxford: Academic Press; 2020:156-77 · DOI: 10.1016/B978-0-12-801238-3.11207-3

Bone marrow adipose tissue

Cawthorn WP

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Adipocyte. 2019 Dec;8(1):330-338. · PMID: 31411107; DOI: 10.1080/21623945.2019.1648175

Quantitative analyses of adiposity dynamics in zebrafish

Elemans LMH, Cervera IP, Riley SE, Wafer R, Fong R, Tandon P, Minchin JEN

PubMed ↗

Front Physiol. 2019 Nov 15;10:1365. PMID: 31803059 · PMID: 31803059

Refining the Mouse Subtotal Nephrectomy in Male 129S2/SV Mice for Consistent Modeling of Progressive Kidney Disease With Renal Inflammation and Cardiac Dysfunction

O'Sullivan J, Finnie SL, Teenan O, Cairns C, Boyd A, Bailey MA, Thomson A, Hughes J, Bénézech C, Conway BR, Denby L

PubMed ↗

Proc Natl Acad Sci U S A. 2019 Apr 23;116(17):8380-8389

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner

Madsen RR, Knox RG, Pearce W, Lopez S, Mahler-Araujo B, McGranahan N, Vanhaesebroeck B, Semple RK

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AJHG, 2018 Dec 6;103(6):1038-1044.

DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, ….[36 authors]…. Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP

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J. Clin Inv 2018 Nov 1;128(11):5185 [* = equal contributions]

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Al-Olabi L, Polubothu, P, Dowsett K, Andrews K, Stadnik P ….[34 authors]….Biesecker LG, Barnacle A, Topf M, Semple R*, Patton EE*, Kinsler K*

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Genet Med. 2018 Oct 1. doi:10.1038/s41436-018-0297-9. [*corresponding] · DOI: 10.1038/s41436-018-0297-9

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M….[25 authors]…. Vabres P, Semple RK*, Biesecker LG

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Trends Mol Med. 2018 Oct;24(10):856-870

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

Madsen RR, Vanhaesebroeck B, Semple RK

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J Lipid Res. 2018 Aug;59(8):1536-1545. · PMID: 29794036; DOI: 10.1194/jlr.d084525

Deep phenotyping in zebrafish reveals genetic and diet-induced adiposity changes that may inform disease risk

Minchin JEN, Scahill CM, Staudt N, Busch-Nentwich EM, Rawls JF

PubMed ↗

Diabetologia. 2018 Jul;61(7):1662-1675. doi: 10.1007/s00125-018-4606-2. Epub 2018 Apr 27. · DOI: 10.1007/s00125-018-4606-2

Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models

Brierley GV, Siddle K, Semple RK

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J Exp Biol. 2018 Mar;221(Pt Suppl 1):jeb164970. · PMID: 29514883; DOI: 10.1242/jeb.164970

Adipose morphology and metabolic disease

Tandon P, Wafer R, Minchin JEN

PubMed ↗

J Clin Endocrinol Metab. 2018 1;103(10):3845-3855

Assessment and Management of Anti-Insulin Autoantibodies in Varying Presentations of Insulin Autoimmune Syndrome

Church D, Cardoso L, Kay RG, Williams CL, Freudenthal B, Clarke C, Harris J, Moorthy M, Karra E, Gribble FM, Reimann F, Burling K, Williams AJK, Munir A, Jones TH, Führer D, Moeller LC, Cohen M, Khoo B, Halsall D, Semple RK

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Disease Models and Mechanisms 2017 Dec 19;10(12):1411-1420

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model

Chen J-H, Goh KJ, Rocha N, Groeneveld MP, Minic M, Barrett TG, Savage DB, Semple RK

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Sci Reports Sci Rep. 2017 Dec 14;7(1):17593.

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion

Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K, Adams C, Stears A, Saudek V, O’Rahilly S, Barroso I, Semple RK

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Adipocyte. 2017 Oct;6(4):277-283. · PMID: 28792859; DOI: 10.1080/21623945.2017.1356504

Elucidating the role of plexin D1 in body fat distribution and susceptibility to metabolic disease using a zebrafish model system

Minchin JEN, Rawls JF

PubMed ↗

Dis Model Mech. 2017 Jun;10(6):797-809. · PMID: 28348140; DOI: 10.1242/dmm.025759

A classification system for zebrafish adipose tissues

Minchin JEN, Rawls JF

PubMed ↗

Eur J Endocrinol. 2017 May 31. pii: EJE-17-0132. doi: 10.1530/EJE-17-0132. · DOI: 10.1530/EJE-17-0132

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-Kinase

Leiter SM, Parker VE, Welters A, Knox R, Rocha N, Clark GR, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham NJ, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK

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J Clin Endocrinol Metab. 2017 May 23. doi: 10.1210/jc.2017-00768. [Epub ahead of print] · DOI: 10.1210/jc.2017-00768

Constitutive activation of AKT2 in humans leads to hypoglycemia without fatty liver or metabolic dyslipidemia

Minic M, Rocha N, Harris J, Groeneveld MP, Leiter S, Wareham N, Sleigh A, De Lonlay P, Hussain K, O'Rahilly S, Semple RK

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Mol Genet Genomic Med. 2017 May 15;5(4):390-404.

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

Chen JH, Geberhiwot T, Barrett TG, Paisey R, Semple RK

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Elife. 2017 Apr 17;6. pii: e23813. doi: 10.7554/eLife.23813. [Epub ahead of print] · DOI: 10.7554/eLife.23813

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

Rocha NM, Bulger DA, Frontini A, Titheradge H, Gribsholt SB ….[22 authoirs]….Maher ER, Richelsen B, Savage DB, Semple RK

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G3 (Bethesda). 2016 Nov 18. pii: g3.116.037184. doi: 10.1534/g3.116.037184. [Epub ahead of print] · DOI: 10.1534/g3.116.037184

Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies

Bulger DA, Fukushige T, Yun S, Semple RK, Hanover JA, Krause MW

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JCI Insight. 2016 Oct 20;1(17):e88766.

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O’Rahilly S, Barroso I, Semple RK

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Clin Endocrinol (Oxf). 2016 Sep 2. doi: 10.1111/cen.13179. · DOI: 10.1111/cen.13179

Diagnosis of insulin autoimmune syndrome using polyethylene glycol precipitation and gel filtration chromatography with ex vivo insulin exchange

Church D, Cardoso L, Bradbury S, Clarke C, Stears A, Dover A, Halsall D, Semple R

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Nat Commun. 2016 Sep 1;7:12651. PMID: 27582256 · PMID: 27582256

Fat-associated lymphoid clusters control local IgM secretion during pleural infection and lung inflammation

Jackson-Jones LH, Duncan SM, Magalhaes MS, Campbell SM, Maizels RM, McSorley HJ, Allen JE, Bénézech C

PubMed ↗

Publication figure for Fat-associated lymphoid clusters control local IgM secretion during pleural infection and lung inflammation — Research figure ↗

Eur J Endocrinol. 2016 May;174(5):R209-23.

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

Semple RK

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Sci Rep. 2016 Feb 18;6:21105. doi: 10.1038/srep21105. · DOI: 10.1038/srep21105

Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production

Groeneveld MP, Brierley GV, Rocha NM, Siddle K, Semple RK

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J Mol Endocrinol. 2015 Oct;55(2):147-58. [*corresponding]

Truncation of POC1A associated with short stature and extreme insulin resistance

Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium, Savage DB, O'Rahilly S, Semple RK*, Barroso I

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Nat Immunol. 2015 Aug;16(8):819-828. PMID: 26147686 · PMID: 26147686

Inflammation-induced formation of fat-associated lymphoid clusters

Bénézech C, Luu NT, Walker JA, Kruglov AA, Loo Y, Nakamura K, Zhang Y, Nayar S, Jones LH, Flores-Langarica A, McIntosh A, Marshall J, Barone F, Besra G, Miles K, Allen JE, Gray M, Kollias G, Cunningham AF, Withers DR, Toellner KM, Jones ND, Veldhoen M, Nedospasov SA, McKenzie ANJ, Caamaño JH

PubMed ↗

J Clin Invest. 2014 Sep;124(9):4028-38

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley W, Wheeler E, Wong S, Saudek V, Savage DB, O’Rahilly S, Carel J-C, Barroso I, O’Driscoll M, Semple RK

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Diabetes. 2014 Jul 21.

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease and type 2 diabetes

Yaghootkar H, Scott RA, White CC …[16 authors]….Hivert MF, Dastani Z, Richards JB, Semple RK, Frayling TM

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Clin Endocrinol (Oxf). 2014 Jun 2. doi: 10.1111/cen.12517. · DOI: 10.1111/cen.12517

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: Implications for pharmacological glucokinase activation

Challis BG, Harris J, Sleigh A, Isaac I, Orme SM, Seevaratnam N, Dhatariya K, Simpson HL, Semple RK

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Am J Med Genet. 2014 Apr 29. doi: 10.1002/ajmg.a.36552. [Epub ahead of print] · DOI: 10.1002/ajmg.a.36552

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J J, Henderson A, Semple RK, Biesecker LG

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Nature Genetics 2013 Aug;45(8):947-50.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT

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Eur J Endocrinol. 2013 Jul 15. [Epub ahead of print]

Genetic Forms of Severe Insulin Resistance: What Endocrinologists Should Know

Parker VE, Semple RK

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Nature Genetics 2012 Jun 24;44(8):928-33.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Lindhurst MJ, Parker VER, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O’Rahilly S, Savage DB, Wakelam MJO, Barroso I, Biesecker LG, Semple RK

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Biochimie 2012 (in press)

Adiponectin and leptin in human severe insulin resistance - diagnostic utility and biological insights

Groeneveld MP, Huang-Doran I., Semple RK

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Diabetic Medicine 2011 Dec;28(12):1476-86

Mechanistic Insights into Insulin Resistance in the Genetic Era

Parker VER, Savage DB, O’Rahilly S, Semple RK

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Science, 2011 Oct 28;334(6055):474

An Activating Mutation of AKT2 and Human Hypoglycemia

Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJL, Savage DB, Ramaswami U, De Lonlay P, O’Rahilly S, Barroso I, Semple RK

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Endocrine Reviews, 2011 Aug;32(4):498-514

Genetic Syndromes of Severe Insulin Resistance

Semple RK, Savage DB, Cochran EK, Gorden P, O’Rahilly S

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J Clin Invest., 2011 Jun 1;121(6):2457-61 [*= co-corresponding]

Mitochondrial dysfunction in patients with primary congenital insulin resistance

Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O’Rahilly S, Semple RK*, Savage DB*

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Diabetes 2011 Mar;60(3):925-35

Genetic Defects in Human Pericentrin are Associated with Severe Insulin Resistance and Diabetes Mellitus

Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YCL, MOPD Study Group, Szekeres F, Krook A, Nolan JJ, O’Driscoll M, Bober M, O’Rahilly S, Jackson AP, Semple RK

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J Clin Invest. 2010 Sep 1;120(9):3127-36

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells

Rashid ST, Corbineau S, Hannan N, Marciniak SJ, Miranda E, Alexander G, Huang-Doran I, Griffin J, Ahrlund-Richter L, Skepper J, Semple R, Weber A, Lomas DA, Vallier L

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Clin Endocrinol (Oxf), 2010 Sep;73(3):286-90

What is the best management strategy for patients with severe insulin resistance?

Semple RK, Williams R, Dunger DB

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Curr. Opin Lipidol. 2010 Aug;21(4):329-36

Recent Insights into Fatty Liver, Metabolic Dyslipidaemia and their Links to Insulin Resistance

Savage DB, Semple RK

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J Clin Endocrinol Metab. 2010 Apr;95(4):1544-54

Hypoadiponectinemia – Cause or Consequence of Human “Insulin Resistance”

Cook JR, Semple RK

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Clin Endocrinol (Oxf), 2010 Apr;72(4):427-35

The Recent Genetics of Hypogonadotrophic Hypogonadism – Novel Insights and New Questions

Semple RK, Topaloglu AK

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Publications

MC1R determines healing outcomes in acute and chronic cutaneous wounds

Functional Beta Cell Mass >40% Predicts Long Term Insulin Independence to 6 Years Following Human Islet Transplantation: Lessons to Guide Clinical Practice.

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

An expanded clinical spectrum of hypoinsulinemic hypoketotic hypoglycaemia

Diagnosis and treatment of anti-insulin antibody-mediated labile glycaemia in insulin-treated diabetes

Genotype-stratified treatment for monogenic insulin resistance: a systematic review

Achievements, Prospects and Challenges in Precision Care for Monogenic Insulin-Deficient and Insulin-Resistant Diabetes

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

ENDOCRINOLOGY IN THE TIME OF COVID-19: Remodelling diabetes services and emerging innovation

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner

DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy