4 Result(s)

Article

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family.

Minying Zhao, Fan Feng, Chunfang Chu, Wentao Yue, Lin Li in Journal of Ovarian Research (2019)

Article

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous s...

Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, ** Zheng, Yu-Di Zhang… in Human Genomics (2022)

Article

TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2

Premature ovarian insufficiency (POI) is a severe disorder leading to female infertility. Genetic mutations are important factors causing POI. TP63-truncating mutation has been reported to cause POI by increas...

Yali Fan, Shuya Chen, Chunfang Chu, **aodan Yin, **g **… in Journal of Ovarian Research (2024)

Article

Correction: TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2

Yali Fan, Shuya Chen, Chunfang Chu, **aodan Yin, **g **… in Journal of Ovarian Research (2024)