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Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity.
Funcke JB, Moepps B, Roos J, von Schnurbein J, Verstraete K, Fröhlich-Reiterer E, Kohlsdorf K, Nunziata A, Brandt S, Tsirigotaki A, Dansercoer A, Suppan E, Haris B, Debatin KM, Savvides SN, Farooqi IS, Hussain K, Gierschik P, Fischer-Posovszky P, Wabitsch M. Funcke JB, et al. Among authors: von schnurbein j. N Engl J Med. 2023 Jun 15;388(24):2253-2261. doi: 10.1056/NEJMoa2204041. N Engl J Med. 2023. PMID: 37314706
A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness.
Fischer-Posovszky P, von Schnurbein J, Moepps B, Lahr G, Strauss G, Barth TF, Kassubek J, Mühleder H, Möller P, Debatin KM, Gierschik P, Wabitsch M. Fischer-Posovszky P, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2010 Jun;95(6):2836-40. doi: 10.1210/jc.2009-2466. Epub 2010 Apr 9. J Clin Endocrinol Metab. 2010. PMID: 20382689
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction.
Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schröder C, Schütz C, Schulz A, Debatin KM, Wabitsch M, Barth TF. Posovszky C, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2012 Feb;97(2):E292-300. doi: 10.1210/jc.2011-2044. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162465
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P. Wabitsch M, et al. Among authors: von schnurbein j. J Clin Endocrinol Metab. 2015 Sep;100(9):3227-30. doi: 10.1210/jc.2015-2263. Epub 2015 Jul 17. J Clin Endocrinol Metab. 2015. PMID: 26186301 Free PMC article.
Monogenic forms of childhood obesity due to mutations in the leptin gene.
Funcke JB, von Schnurbein J, Lennerz B, Lahr G, Debatin KM, Fischer-Posovszky P, Wabitsch M. Funcke JB, et al. Among authors: von schnurbein j. Mol Cell Pediatr. 2014 Dec;1(1):3. doi: 10.1186/s40348-014-0003-1. Epub 2014 Sep 4. Mol Cell Pediatr. 2014. PMID: 26567097 Free PMC article.
45 results