Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models

A recent genetic analysis of infertile globozoospermic patients identified causative mutations in three genes: a protein interacting with C kinase 1 (PICK1), dpy 19-like 2 (DPY19L2), and spermatogenesis associated 16 (SPATA16). Although mouse models have clarified the physiological functions of Pick1 and Dpy19l2 during spermatogenesis, Spata16 remains to be determined. Globozoospermic patients ...

TGFβ3 (TGFB3) polymorphism is associated with male infertility.

Factors affecting the blood-testis barrier function may be involved in testicular damage and male infertility. Two cytokines play an important role in the barrier regulation, namely transforming growth factor beta 3 (TGF-β3) and tumor necrosis factor (TNF-α). The aim of this study was to investigate the potential association between TGF-β3 (TGFB3) and TNF-α (TNF) gene polymorphisms and male inf...

Phosphodiesterase 8B Polymorphism rs4704397 Is Associated with Infertility in Subclinical Hypothyroid Females: A Case-Control Study

Background: Subclinical hypothyroidism (SCH) remains largely unnoticed as a major cause of infertility due toasymptomatic. Polymorphisms of phosphodiesterase 8B gene (PDE8B) have been linked with various diseases,including female infertility. Hence, we aimed to study prevalence of SCH, in infertile females, explore associationof PDE8B rs4704397 A/G and rs6885099 G/A polymorphi...

I-5: Alteration in ?-Defensin 126 Genes Associated with Unexplained Male Infertility and ART Outcomes

Gene Mutations Associated with Male Infertility