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Page 1
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa … See abstract for full author list ➔ Groeneweg S, et al. Among authors: van den akker elt. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Correction to: Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway-Associated Disease: a Roundtable Summary.
Heymsfield SB, Clément K, Dubern B, Goldstone AP, Haqq AM, Kühnen P, Richards J, Roth CL, van den Akker ELT, Wabitsch M, Yanovski JA. Heymsfield SB, et al. Among authors: van den akker elt. Curr Obes Rep. 2025 Mar 11;14(1):23. doi: 10.1007/s13679-025-00616-0. Curr Obes Rep. 2025. PMID: 40067578 Free PMC article. No abstract available.
The role of the mineralocorticoid receptor in steroidinduced cytotoxicity in pediatric acute lymphoblastic leukemia.
Van Hulst AM, Van der Zwet JCG, Buijs-Gladdines JGCAM, Smits WK, Fiocco M, Pieters R, Van Leeuwen FN, Van den Heuvel-Eibrink MM, Van den Akker ELT, Meijerink JPP. Van Hulst AM, et al. Among authors: van den heuvel eibrink mm, van leeuwen fn, van der zwet jcg, van den akker elt. Haematologica. 2024 May 1;109(5):1551-1556. doi: 10.3324/haematol.2023.282928. Haematologica. 2024. PMID: 38205521 Free PMC article. No abstract available.
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.
van der Walle EEPL, de Groot CJ, Kleinendorst L, de Klerk H, Welling MS, Abawi O, Meeusen REH, Boon MR, van Rossum EFC, van Haelst MM, van den Akker ELT. van der Walle EEPL, et al. Among authors: van den akker elt. Obesity (Silver Spring). 2025 May;33(5):986-995. doi: 10.1002/oby.24263. Epub 2025 Apr 15. Obesity (Silver Spring). 2025. PMID: 40231439 Free PMC article.
Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia.
Lawrence NR, Bacila I, Tonge J, Dawson J, Collins GS, Lang ZQ, Bryce J, Alimussina M, Chen M, Ali SR, Adam S, van den Akker ELT, Bachega TASS, Baronio F, Birkebæk NH, Bonfig W, Claahsen-van der Grinten H, Cools M, Costa EC, Debono M, de Vries L, Flück CE, Gazdagh G, Güven A, Hannema SE, Iotova V, van der Kamp HJ, Krone R, Leka-Emiri S, Clemente-León M, Lichiardopol CR, Markosyan RL, Milenkovic T, de Miranda MC, Neumann U, Newell-Price J, Poyrazoğlu Ş, Probst-Scheidegger U, Russo G, De Sanctis L, Seneviratne SN, Stancampiano MR, Tadokoro-Cuccaro R, Thankamony A, Vieites A, Wasniewska M, Yeste D, Tomlinson J, Ahmed SF, Krone N. Lawrence NR, et al. Among authors: van den akker elt. Eur J Endocrinol. 2025 Apr 30;192(5):529-539. doi: 10.1093/ejendo/lvaf060. Eur J Endocrinol. 2025. PMID: 40184493 Free article.
152 results