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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324.
JCI Insight. 2023.
PMID: 36602867
Free PMC article.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND.
Delaney A, et al. Among authors: salnikov kb.
J Clin Endocrinol Metab. 2020 May 1;105(5):1538-51. doi: 10.1210/clinem/dgaa065.
J Clin Endocrinol Metab. 2020.
PMID: 32034419
Free PMC article.
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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB.
Lippincott MF, et al.
Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30.
Genet Med. 2022.
PMID: 36178483
Free PMC article.
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Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R.
Dwyer AA, et al. Among authors: salnikov kb.
J Clin Endocrinol Metab. 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615.
J Clin Endocrinol Metab. 2023.
PMID: 36268624
Free PMC article.
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Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R.
Dwyer AA, et al. Among authors: salnikov kb.
Front Endocrinol (Lausanne). 2022 Nov 2;13:1054447. doi: 10.3389/fendo.2022.1054447. eCollection 2022.
Front Endocrinol (Lausanne). 2022.
PMID: 36407308
Free PMC article.
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R.
Rojas RA, et al. Among authors: salnikov kb.
Genet Med. 2023 Jun;25(6):100855. doi: 10.1016/j.gim.2023.100855.
Genet Med. 2023.
PMID: 37272927
No abstract available.
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S.
Duckett K, et al.
J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373.
J Clin Endocrinol Metab. 2023.
PMID: 37339320
Free PMC article.
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R.
Rojas RA, et al. Among authors: salnikov kb.
Genet Med. 2021 Apr;23(4):629-636. doi: 10.1038/s41436-020-01051-3. Epub 2021 Jan 13.
Genet Med. 2021.
PMID: 33442024
Free PMC article.
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