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SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability.
Lettieri A, Oleari R, van den Munkhof MH, van Battum EY, Verhagen MG, Tacconi C, Spreafico M, Paganoni AJJ, Azzarelli R, Andre' V, Amoruso F, Palazzolo L, Eberini I, Dunkel L, Howard SR, Fantin A, Pasterkamp RJ, Cariboni A. Lettieri A, et al. Among authors: dunkel l. Nat Commun. 2023 Dec 7;14(1):8097. doi: 10.1038/s41467-023-43820-z. Nat Commun. 2023. PMID: 38062045 Free PMC article.
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A, Dunkel L. Howard SR, et al. Among authors: dunkel l. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420-3429. doi: 10.1210/jc.2018-00646. J Clin Endocrinol Metab. 2018. PMID: 29931354 Free PMC article.
Management of hypogonadism from birth to adolescence.
Howard SR, Dunkel L. Howard SR, et al. Among authors: dunkel l. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):355-372. doi: 10.1016/j.beem.2018.05.011. Epub 2018 Jun 6. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086863 Review.
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. Among authors: dunkel l. JCI Insight. 2020 Jun 4;5(11):e133434. doi: 10.1172/jci.insight.133434. JCI Insight. 2020. PMID: 32493844 Free PMC article.
The Genetic Basis of Delayed Puberty.
Howard SR, Dunkel L. Howard SR, et al. Among authors: dunkel l. Neuroendocrinology. 2018;106(3):283-291. doi: 10.1159/000481569. Epub 2017 Sep 18. Neuroendocrinology. 2018. PMID: 28926843 Free article. Review.
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: dunkel l. 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.
240 results