Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

2015119 citationsJournal Article

Authors

Yardena Tenenbaum‐Rakover · Technion – Israel Institute of Technology

Ariella Weinberg‐Shukron · Hebrew University of Jerusalem

Paul Renbaum · Shaare Zedek Medical Center

Orit Lobel · Shaare Zedek Medical Center

Hasan Eideh

Süleyman Gülsüner · University of Washington Medical Center

Dvir Dahary

Amal Abu Rayyan

Abstract

MCM8, a component of the pre-replication complex, is crucial for gonadal development and maintenance in humans-both males and females. These findings provide new insights into the genetic disorders of infertility and premature menopause in women.

Topics & Keywords

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Prenatal Screening and Diagnostics Sexual Differentiation and Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Medical Genetics

Volume 52, Issue 6, pp. 391-399

DOI: 10.1136/jmedgenet-2014-102921

Field-Weighted Citation Impact: 8.61