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Page 1
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. Adv Exp Med Biol. 2024. PMID: 38884729
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y. Luo W, et al. J Ovarian Res. 2023 Feb 15;16(1):39. doi: 10.1186/s13048-023-01104-6. J Ovarian Res. 2023. PMID: 36793102 Free PMC article.
Interestingly, 58 variants (95.1%, 58/61) were firstly identified in patients with POI. FOXL2 harbored the highest occurrence frequency (3.2%, 16/500), among whom presented with isolated ovarian insufficiency instead of blepharophimosis-ptosis-epicanthus inversus syndrome. …
Interestingly, 58 variants (95.1%, 58/61) were firstly identified in patients with POI. FOXL2 harbored the highest occurrence frequen …
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Rezaei M, Liang M, Yalcin Z, Martin JH, Kazemi P, Bareke E, Ge ZJ, Fardaei M, Benadiva C, Hemida R, Hassan A, Maher GJ, Abdalla E, Buckett W, Bolze PA, Sandhu I, Duman O, Agrawal S, Qian J, Vallian Broojeni J, Bhati L, Miron P, Allias F, Selim A, Fisher RA, Seckl MJ, Sauthier P, Touitou I, Tan SL, Majewski J, Taketo T, Slim R. Rezaei M, et al. J Clin Invest. 2024 Nov 15;134(22):e170669. doi: 10.1172/JCI170669. J Clin Invest. 2024. PMID: 39545410 Free PMC article.
We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. ...
We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic H …
FOXL2 drives the differentiation of supporting gonadal cells in early ovarian development.
Danti L, Lundin K, Nedeczey-Ruzsák P, Tuuri T, Tapanainen JS. Danti L, et al. Reprod Biol Endocrinol. 2025 Mar 18;23(1):44. doi: 10.1186/s12958-025-01377-0. Reprod Biol Endocrinol. 2025. PMID: 40102860 Free PMC article.
BACKGROUND: Forkhead box L2 (FOXL2) is a transcription factor from the forkhead box family primarily expressed in the pituitary, ovaries, and eyelids. ...However, the specific role of FOXL2 in early human somatic cell ovarian development is largely unknown. METHODS: …
BACKGROUND: Forkhead box L2 (FOXL2) is a transcription factor from the forkhead box family primarily expressed in the pituitary, ovar …
FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.
Wen F, Ding Y, Wang M, Du J, Zhang S, Kee K. Wen F, et al. Cell Prolif. 2024 May;57(5):e13589. doi: 10.1111/cpr.13589. Epub 2024 Jan 8. Cell Prolif. 2024. PMID: 38192172 Free PMC article.
We used an AMH-fluorescence-reporter system to screen candidate factors for cellular reprogramming and generated human induced granulosa-like cells (hiGC) by overexpressing FOXL2 and NR5A1. AMH-EGFP(+) hiGC resembled human cumulus cells in transcriptome profiling and secre …
We used an AMH-fluorescence-reporter system to screen candidate factors for cellular reprogramming and generated human induced granulosa-lik …
Decoding the epigenetic mechanism of mammalian sex determination.
Kumar C, Roy JK. Kumar C, et al. Exp Cell Res. 2024 Jun 1;439(1):114011. doi: 10.1016/j.yexcr.2024.114011. Epub 2024 Mar 24. Exp Cell Res. 2024. PMID: 38531506 Review.
Gonadal differentiation and the postnatal manifestation of the gonadal phenotype involve a sophisticated interplay of transcription factors such as SOX9 and FOXL2. Central to this interplay are chromatin modifiers regulating the mutual antagonism during this interplay. ...
Gonadal differentiation and the postnatal manifestation of the gonadal phenotype involve a sophisticated interplay of transcription factors …
Review on Sertoli-Leydig Cell Tumours of the Ovary.
Muscat C, Calleja-Agius J. Muscat C, et al. Discov Med. 2024 Feb;36(181):234-247. doi: 10.24976/Discov.Med.202436181.22. Discov Med. 2024. PMID: 38409829 Free article. Review.
Diverse chromosomal and genetic mutations have been identified in SLCTs, with the most well-studied being the genetic mutations observed in the Dicer 1, Ribonuclease III (DICER1) and the Forkhead Box L2 (FOXL2) genes. These mutations have important clinical implications an …
Diverse chromosomal and genetic mutations have been identified in SLCTs, with the most well-studied being the genetic mutations observed in …
Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.
He M, Ji C, Li Z, Chen S, Gao J, Shen L, Zhang C. He M, et al. Gastric Cancer. 2025 Sep;28(5):872-885. doi: 10.1007/s10120-025-01621-x. Epub 2025 May 15. Gastric Cancer. 2025. PMID: 40372586 Free PMC article.
Mutations in MEN1, MLH1, CEBPA, ATR, GNAQ, and FOXL2 genes were more frequent in responders (P < 0.05). Compared with wild-type patients, patients with CEBPA or IRS2 mutations had prolonged median progression-free survival (mPFS, P = 0.0056). ...

Mutations in MEN1, MLH1, CEBPA, ATR, GNAQ, and FOXL2 genes were more frequent in responders (P < 0.05). Compared with wild-type pa

…
An inducible FOXL2-dependent mouse model of ovarian adult type granulosa cell tumor.
Li J, Welte T, Calzoncinth K, Vuttaradhi VK, Brodsky AL, Wong KK, Sebastian MM, Lawson B, Kingsley CV, Hillman RT. Li J, et al. Gynecol Oncol. 2025 Mar;194:125-130. doi: 10.1016/j.ygyno.2025.01.011. Gynecol Oncol. 2025. PMID: 40221170 Free PMC article.
BACKGROUND: Adult-type granulosa cell tumors (AGCTs) are rare ovarian sex cord/stromal tumors with near-universal hotspot mutations in FOXL2 (c.C402G; p.Cys134Trp). Progress in the treatment of relapsed AGCT has been hindered by the lack of high-fidelity FOXL2-based …
BACKGROUND: Adult-type granulosa cell tumors (AGCTs) are rare ovarian sex cord/stromal tumors with near-universal hotspot mutations in FO …
Novel variants associated with premature ovarian insufficiency in Russian adolescents.
Tsabai P, Kumykova Z, Averkova V, Pavlova N, Maslennikov D, Bolshakova A, Batyrova Z, Kolpakova T, Bystritskiy A, Karetnikova N, Ekimov A, Goltsov A, Kuznetsova M, Turchinets A, Mukosey I, Kochetkova T, Sadelov I, Shubina J, Uvarova E, Yureneva S, Trofimov D, Sukhikh G. Tsabai P, et al. Front Endocrinol (Lausanne). 2025 Nov 27;16:1687148. doi: 10.3389/fendo.2025.1687148. eCollection 2025. Front Endocrinol (Lausanne). 2025. PMID: 41393291 Free PMC article.
RESULTS: We identified variants in 15 genes in 38% of the cohort, including 13 causative genes (FMR1, DCAF17, FOXL2, STAG3, TP63, BNC1, CPEB1, NOBOX, LMNA, FSHR, SPIDR, MCM8, EIF2B2) and 2 candidate genes (MYRF, LATS1). 3.2% of patients carried an FMR1 premutation. ...
RESULTS: We identified variants in 15 genes in 38% of the cohort, including 13 causative genes (FMR1, DCAF17, FOXL2, STAG3, TP63, BNC …
66 results