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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL Jr, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF Jr, Seminara SB, Mellon PL, Balasubramanian R. Cassin J, et al. Among authors: mellon pl. JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324. JCI Insight. 2023. PMID: 36602867 Free PMC article.
The transcription factor VAX1 in VIP neurons of the suprachiasmatic nucleus impacts circadian rhythm generation, depressive-like behavior, and the reproductive axis in a sex-specific manner in mice.
Van Loh BM, Yaw AM, Breuer JA, Jackson B, Nguyen D, Jang K, Ramos F, Ho EV, Cui LJ, Gillette DLM, Sempere LF, Gorman MR, Tonsfeldt KJ, Mellon PL, Hoffmann HM. Van Loh BM, et al. Among authors: mellon pl. Front Endocrinol (Lausanne). 2023 Dec 22;14:1269672. doi: 10.3389/fendo.2023.1269672. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38205198 Free PMC article.
Female fertility does not require Bmal1 in suprachiasmatic nucleus neurons expressing arginine vasopressin, vasoactive intestinal peptide, or neuromedin-S.
Tonsfeldt KJ, Cui LJ, Lee J, Walbeek TJ, Brusman LE, Jin Y, Mieda M, Gorman MR, Mellon PL. Tonsfeldt KJ, et al. Among authors: mellon pl. Front Endocrinol (Lausanne). 2022 Aug 5;13:956169. doi: 10.3389/fendo.2022.956169. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35992114 Free PMC article.
Deletion of Six3 in post-proliferative neurons produces weakened SCN circadian output, improved metabolic function, and dwarfism in male mice.
Meadows JD, Breuer JA, Lavalle SN, Hirschenberger MR, Patel MM, Nguyen D, Kim A, Cassin J, Gorman MR, Welsh DK, Mellon PL, Hoffmann HM. Meadows JD, et al. Among authors: mellon pl. Mol Metab. 2022 Mar;57:101431. doi: 10.1016/j.molmet.2021.101431. Epub 2021 Dec 31. Mol Metab. 2022. PMID: 34974160 Free PMC article.
The transcription factors SIX3 and VAX1 are required for suprachiasmatic nucleus circadian output and fertility in female mice.
Hoffmann HM, Meadows JD, Breuer JA, Yaw AM, Nguyen D, Tonsfeldt KJ, Chin AY, Devries BM, Trang C, Oosterhouse HJ, Lee JS, Doser JW, Gorman MR, Welsh DK, Mellon PL. Hoffmann HM, et al. Among authors: mellon pl. J Neurosci Res. 2021 Oct;99(10):2625-2645. doi: 10.1002/jnr.24864. Epub 2021 Jul 2. J Neurosci Res. 2021. PMID: 34212416 Free PMC article.
167 results