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Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Oleari R, et al. Among authors: howard sr. Dis Model Mech. 2023 Mar 1;16(3):dmm049996. doi: 10.1242/dmm.049996. Epub 2023 Mar 28. Dis Model Mech. 2023. PMID: 36810932 Free PMC article.
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. 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.
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: howard sr. JCI Insight. 2020 Jun 4;5(11):e133434. doi: 10.1172/jci.insight.133434. JCI Insight. 2020. PMID: 32493844 Free PMC article.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: howard sr. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
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: howard sr. Nat Commun. 2023 Dec 7;14(1):8097. doi: 10.1038/s41467-023-43820-z. Nat Commun. 2023. PMID: 38062045 Free PMC article.
The Genetic Basis of Delayed Puberty.
Howard SR. Howard SR. Front Endocrinol (Lausanne). 2019 Jun 26;10:423. doi: 10.3389/fendo.2019.00423. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 31293522 Free PMC article. Review.
68 results