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Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Huang-Doran I, et al. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 Free PMC article.
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.
Kwok A, Zvetkova I, Virtue S, Luijten I, 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. Kwok A, et al. Among authors: huang doran i. Mol Metab. 2020 Oct;40:101020. doi: 10.1016/j.molmet.2020.101020. Epub 2020 May 19. Mol Metab. 2020. PMID: 32439336 Free PMC article.
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. Mericq V, et al. Among authors: huang doran i. Eur J Endocrinol. 2022 Mar 23;186(5):543-552. doi: 10.1530/EJE-21-0609. Eur J Endocrinol. 2022. PMID: 35234134 Free PMC article.
Non-alcoholic fatty liver disease is characterised by a reduced polyunsaturated fatty acid transport via free fatty acids and high-density lipoproteins (HDL).
Mocciaro G, Allison M, Jenkins B, Azzu V, Huang-Doran I, Herrera-Marcos LV, Hall Z, Murgia A, Susan D, Frontini M, Vidal-Puig A, Koulman A, Griffin JL, Vacca M. Mocciaro G, et al. Among authors: huang doran i. Mol Metab. 2023 Jul;73:101728. doi: 10.1016/j.molmet.2023.101728. Epub 2023 Apr 19. Mol Metab. 2023. PMID: 37084865 Free PMC article.
21 results