Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Genetics of male infertility: from research to clinic

C Krausz, AR Escamilla, C Chianese - Reproduction, 2015 - rep.bioscientifica.com
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …

Diverse monogenic subforms of human spermatogenic failure

L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …

Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets

MJ Robertson, K Kent, N Tharp, K Nozawa, L Dean… - BMC biology, 2020 - Springer
Background The development of a safe, effective, reversible, non-hormonal contraceptive
method for men has been an ongoing effort for the past few decades. However, despite …

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …

A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes

TF Araujo, C Friedrich, CHP Grangeiro, LR Martelli… - …, 2020 - Wiley Online Library
Background The routine genetic analysis for diagnosing male infertility has not changed
over the last twenty years, and currently available tests can only determine the etiology of …

Selective and differential detection of Hg2+ and Cu2+ with use of a single rhodamine hydrazone-type probe in the absence and presence of UV irradiation

LL Chang, Q Gao, S Liu, CC Hu, WJ Zhou, MM Zheng - Dyes and Pigments, 2018 - Elsevier
A new multiple-ion-responsive chemosensor was developed for the selective and differential
detection of Hg 2+ and Cu 2+, based on the completely different ions recognition behaviors …

The genetics of human infertility by functional interrogation of SNPs in mice

P Singh, JC Schimenti - Proceedings of the National …, 2015 - National Acad Sciences
Infertility is a prevalent health issue, affecting∼ 15% of couples of childbearing age. Nearly
one-half of idiopathic infertility cases are thought to have a genetic basis, but the underlying …

Role of genetic mutations in folate-related enzyme genes on Male Infertility

K Liu, R Zhao, M Shen, J Ye, X Li, Y Huang, L Hua… - Scientific reports, 2015 - nature.com
Several studies showed that the genetic mutations in the folate-related enzyme genes might
be associated with male infertility; however, the results were still inconsistent. We performed …

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms

X Wang, X Liu, M Qu, H Li - Cellular and Molecular Life Sciences, 2023 - Springer
Male infertility can be caused by quantitative and/or qualitative abnormalities in
spermatogenesis, which affects men's physical and mental health. Sertoli cell-only …