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Infertility and Recurrent Pregnancy Loss v0.27 | GDF9 | Zornitza Stark Marked gene: GDF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.27 | GDF9 | Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.27 | GDF9 | Zornitza Stark Classified gene: GDF9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.27 | GDF9 | Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.25 | GDF9 |
Jasmine Chew gene: GDF9 was added gene: GDF9 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: GDF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF9 were set to 29044499; 33036707; 38643161 Phenotypes for gene: GDF9 were set to Premature ovarian failure 14, MIM# 618014 Review for gene: GDF9 was set to GREEN Added comment: Literature in OMIM- PMID:29044499;33036707 - biallelic variants reported in women with premature ovarian failure, supported by functional evidence New paper: i) PMID: 38643161 (2024)- compound heterozygous variants (Q321X/S428T) in two infertile women with defect in follicle enlargement In vitro experiments confirmed that these variants caused reduction of GDF9 secretion, and/or alleviation in BMP15 binding. Moreover, Q308X/S415T mouse model was constructed, which recapitulated the phenotypes in probands with abnormal estrogen secretion and defected follicle enlargement. n addition, RNA sequencing of granulosa cells revealed the transcriptomic profiles related to defective follicle enlargement in theQ308X/S415T group. Sources: Literature |