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Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A. De Rocca Serra-Nédélec A, et al. Among authors: tauber m. Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27. Proc Natl Acad Sci U S A. 2012. PMID: 22371576 Free PMC article.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M. Cohen E, et al. Among authors: tauber m. J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158. J Clin Endocrinol Metab. 2017. PMID: 27820671
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, Castinetti F, Galon-Faure N, Brauner R, Marrakchi Turki Z, Tauber M, El Kholy M, Linglart A, Rodien P, Fedala NS, Bergada I, Cortet-Rudelli C, Polak M, Nicolino M, Stuckens C, Barlier A, Brue T, Reynaud R; Genhypopit Network. Jullien N, et al. Among authors: tauber m. Clin Endocrinol (Oxf). 2021 Feb;94(2):277-289. doi: 10.1111/cen.14355. Epub 2020 Dec 21. Clin Endocrinol (Oxf). 2021. PMID: 33098107
Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
Ghoussaini M, Vatin V, Lecoeur C, Abkevich V, Younus A, Samson C, Wachter C, Heude B, Tauber M, Tounian P, Hercberg S, Weill J, Levy-Marchal C, Le Stunff C, Bougnères P, Froguel P, Meyre D. Ghoussaini M, et al. Among authors: tauber m. J Clin Endocrinol Metab. 2007 Nov;92(11):4403-9. doi: 10.1210/jc.2006-2316. Epub 2007 Aug 14. J Clin Endocrinol Metab. 2007. PMID: 17698913
777 results