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IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr HL, Metherell LA, Sternberg MJ, Cabrera CP, Warren HR, Barnes MR, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, André V, Gothilf Y, Cariboni A, Dunkel L. Howard SR, et al. Among authors: mancini a. EMBO Mol Med. 2016 Jun 1;8(6):626-42. doi: 10.15252/emmm.201606250. Print 2016 Jun. EMBO Mol Med. 2016. PMID: 27137492 Free PMC article.
DLK1/PREF1 marks a novel cell population in the human adrenal cortex.
Hadjidemetriou I, Mariniello K, Ruiz-Babot G, Pittaway J, Mancini A, Mariannis D, Gomez-Sanchez CE, Parvanta L, Drake WM, Chung TT, Abdel-Aziz TE, DiMarco A, Palazzo FF, Wierman ME, Kiseljak-Vassiliades K, King PJ, Guasti L. Hadjidemetriou I, et al. Among authors: mancini a. J Steroid Biochem Mol Biol. 2019 Oct;193:105422. doi: 10.1016/j.jsbmb.2019.105422. Epub 2019 Jun 29. J Steroid Biochem Mol Biol. 2019. PMID: 31265901 Free PMC article.
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.
Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJ, Leprovots M, Hadjidemetriou I, Monti E, David A, Wehkalampi K, Oleari R, Lettieri A, Vezzoli V, Vassart G, Cariboni A, Bonomi M, Garcia MI, Guasti L, Dunkel L. Mancini A, et al. JCI Insight. 2020 Jun 4;5(11):e133434. doi: 10.1172/jci.insight.133434. JCI Insight. 2020. PMID: 32493844 Free PMC article.
Genetics of pubertal timing.
Mancini A, Magnotto JC, Abreu AP. Mancini A, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101618. doi: 10.1016/j.beem.2022.101618. Epub 2022 Feb 5. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35183440 Free PMC article. Review.
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Magnotto JC, Mancini A, Bird K, Montenegro L, Tütüncüler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Magnotto JC, et al. Among authors: mancini a. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1646-1656. doi: 10.1210/clinem/dgad151. J Clin Endocrinol Metab. 2023. PMID: 36916482 Free PMC article.
1,354 results