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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Payne F, et al. Among authors: brown rj. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889630 Free PMC article.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Among authors: brown rj. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues 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. Huang-Doran I, et al. Among authors: brown rj. J Clin Endocrinol Metab. 2021 Jul 13;106(8):2367-2383. doi: 10.1210/clinem/dgab275. J Clin Endocrinol Metab. 2021. PMID: 33901270 Free PMC article.
Effects of Metreleptin in Pediatric Patients With Lipodystrophy.
Brown RJ, Meehan CA, Cochran E, Rother KI, Kleiner DE, Walter M, Gorden P. Brown RJ, et al. J Clin Endocrinol Metab. 2017 May 1;102(5):1511-1519. doi: 10.1210/jc.2016-3628. J Clin Endocrinol Metab. 2017. PMID: 28324110 Free PMC article.
732 results