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| Infertility and Recurrent Pregnancy Loss v0.118 | LHX8 | Zornitza Stark Marked gene: LHX8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.118 | LHX8 | Zornitza Stark Gene: lhx8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.118 | LHX8 | Zornitza Stark Classified gene: LHX8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.118 | LHX8 | Zornitza Stark Gene: lhx8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | LHX8 |
Jasmine Chew gene: LHX8 was added gene: LHX8 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX8 were set to 27603904; 34095689; 29329412; 36029299 Phenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related Review for gene: LHX8 was set to GREEN Added comment: PMID:27603904; 34095689- reported POI patient with the same heterozygous missense p.Ala325Val variant. PMID: 29329412 - Lhx8 knockout mouse model demonstrates that Lhx8-/- ovaries maintain the same number of germ cells throughout embryonic development; rapid decrease in the pool of oocytes starts shortly before birth. Lhx8-/- oocytes failed to repair DNA damage-which normally occurs when meiosis is initiated during embryonic development and DNA damage repair genes were downregulated throughout the oocyte short lifespan. PMID: 36029299- 5 heterozygous loss-of-function LHX8 variants were identified from 6 independent families with infertility characterized by oocyte maturation arrest. All the identified variants in LHX8 produced truncated LHX8 protein and resulted in loss of LHX8 nuclear localization in both HeLa cells and mouse oocytes. Sources: Literature |
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