A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
Sign Up to like & getrecommendations! Published in 2022 at "Human reproduction"
DOI: 10.1093/humrep/deac259
Abstract: STUDY QUESTION Can the analysis of a large Turkish consanguineous family via whole exome sequencing (WES) identify novel causative genetic variation responsible for nonobstructive azoospermia (NOA) characterized by arrest at primary spermatocyte stage? SUMMARY ANSWER… read more here.
Keywords: turkish family; family; variant; hormad1 ... See more keywords
Meiotic cohesins mediate initial loading of HORMAD1 to the chromosomes and coordinate SC formation during meiotic prophase
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009048
Abstract: During meiotic prophase, sister chromatids are organized into axial element (AE), which underlies the structural framework for the meiotic events such as meiotic recombination and homolog synapsis. HORMA domain-containing proteins (HORMADs) localize along AE and… read more here.
Keywords: hormad1; meiotic cohesins; loading hormad1; formation ... See more keywords