Cargando…
Human oocyte maturation arrest caused by a novel missense mutation in TUBB8
OBJECTIVE: To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. METHODS: Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA...
Autores principales: | Xiang, Jingjing, Wang, Wei, Qian, Chunfeng, Xue, Jiangyang, Wang, Ting, Li, Haibo, Li, Hong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135992/ https://www.ncbi.nlm.nih.gov/pubmed/29877102 http://dx.doi.org/10.1177/0300060518778638 |
Ejemplares similares
-
Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest
por: Yao, Zhongyuan, et al.
Publicado: (2022) -
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
por: Dou, Qian, et al.
Publicado: (2023) -
Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family
por: Xing, Qiong, et al.
Publicado: (2020) -
Nuclear-cytoplasmic asynchrony in oocyte maturation caused by TUBB8 variants via impairing microtubule function: a novel pathogenic mechanism
por: Chang, Tianli, et al.
Publicado: (2023) -
Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos
por: Hu, Tingwenyi, et al.
Publicado: (2023)