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 …

Male infertility: pathogenesis and clinical diagnosis

C Krausz - Best practice & research Clinical endocrinology & …, 2011 - Elsevier
Infertility affects about 7% of all men. The etiology of impaired sperm production and function
can be related to factors acting at pre-testicular, post-testicular or directly at the testicular …

Recommendations for the classification of diseases as CFTR-related disorders

C Bombieri, M Claustres, K De Boeck, N Derichs… - Journal of Cystic …, 2011 - Elsevier
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …

Subtyping schizophrenia: implications for genetic research

A Jablensky - Molecular psychiatry, 2006 - nature.com
Phenotypic variability and likely extensive genetic heterogeneity have been confounding the
search for the causes of schizophrenia since the inception of the diagnostic category. The …

Testing for genetic contributions to infertility: potential clinical impact

C Krausz, F Cioppi… - Expert review of molecular …, 2018 - Taylor & Francis
Introduction: Male infertility affects about 7% of the general male population, and it is a
multifactorial, polygenic pathological condition. Known genetic factors, accounting for about …

Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia

WM Xu, J Chen, H Chen, RY Diao, KL Fok, JD Dong… - PLoS one, 2011 - journals.plos.org
Cystic fibrosis (CF) is the most common life-limiting recessive genetic disease among
Caucasians caused by mutations of the cystic fibrosis transmembrane conductance …

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study

L Jiang, J Jin, S Wang, F Zhang, Y Dai, L Shi, S Zhang - Gene, 2017 - Elsevier
A variety of experimental studies have yielded evidence that the cystic fibrosis
transmembrane conductance regulator (CFTR) protein participates in the process of …

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility

L Tamburino, A Guglielmino, E Venti… - Reproductive biomedicine …, 2008 - Elsevier
Mutations of the cystic fibrosis transmembrane regulator (CFTR) gene and polymorphisms,
such as the (TG) m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9 …

The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis

L Yang, Z Ren, B Yang, J Zhou, Z Peng, K Fang… - Andrologia, 2020 - Wiley Online Library
The association of genetic variants and congenital bilateral absence of the vas deferens
(CBAVD) has been well acknowledged. By contrast, the link between nonobstructive …

Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners

S Gallati, S Hess, D Galié-Wunder… - Reproductive …, 2009 - Elsevier
The objective of this study was to investigate the contribution of cystic fibrosis
transmembrane conductance regulator (CFTR) to human infertility and to define screening …