Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

Autor: Yingjing Wan, Zhidan Hong, Binyu Ma, Xuanyi He, Ling Ma, Mei Wang, Yuanzhen Zhang

Publikováno v: Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-11 (2023)

Abstract Background Diminished ovarian reserve (DOR) is a common cause of female infertility, with genetic factors being a significant contributor. However, due to high genetic heterogeneity, the etiology of DOR in many cases remains unknown. In this

Externí odkaz: https://doaj.org/article/51768fca391f461594795bd040b9eb85

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

Autor: Peng Li, Zhiyong Ji, Erlei Zhi, Yuxiang Zhang, Sha Han, Liangyu Zhao, Ruhui Tian, Huixing Chen, Yuhua Huang, Jing Zhang, Huirong Chen, Fujun Zhao, Zhi Zhou, Zheng Li, Chencheng Yao

Publikováno v: Reproductive Biology and Endocrinology, Vol 20, Iss 1, Pp 1-10 (2022)

Abstract Background Non-obstructive azoospermia (NOA) is one of the most severe type in male infertility, and the genetic causes of NOA with meiotic arrest remain elusive. Methods Four Chinese families with NOA participated in the study. We performed

Externí odkaz: https://doaj.org/article/b7d5e6f33b6442b3a2a4773ac1a1bc60

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Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individuals

Autor: Mehdi Totonchi, Mehri Mashayekhi, Ken McElreavey, Navid Almadani, Anu Bashambou, Arvand Akbari, Kimiya Padidar, Najmeh Salehi, Mohammad Ali Sadighi Gilani

Publikováno v: Human Reproduction
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, Oxford University Press (OUP), 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩

STUDY QUESTIONCan whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family?SUMMARY ANSWERPatients with primary ovarian insufficiency (POI) an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbb6fadc8926a4bf1f45ebf363194ab
https://doi.org/10.1093/humrep/deaa362

MutS homologue 4 and MutS homologue 5 Maintain the Obligate Crossover in Wheat Despite Stepwise Gene Loss following Polyploidization

Autor: Stefan Heckmann, Stuart D. Desjardins, Ian R. Henderson, Keith J. Edwards, James D. Higgins, Mohammad A. Ayoub, Daisy Ogle

Publikováno v: Plant Physiol

Crossovers (COs) ensure accurate chromosome segregation during meiosis while creating novel allelic combinations. Here, we show that allotetraploid (AABB) durum wheat (Triticum turgidum ssp. durum) utilizes two pathways of meiotic recombination. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fba06d9d565b13c4f9709fae24071e9
https://doi.org/10.1104/pp.20.00534