Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Relationship amongst teratozoospermia, seminal oxidative stress and male infertility

BACKGROUND Spermatozoa morphology is an important and complex characteristic of the fertilization capacity of male germ cells. Morphological abnormalities have been observed to be accompanied by reactive oxygen species (ROS) overproduction and further damage to spermatozoa, ultimately leading to infertility. Therefore, this study aimed to examine the relationship between seminal ROS production ...

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

Imprisonment-associated sperm clumping and male infertility.

OBJECTIVE This observational, retrospective study investigated infertility among Iraqi men who had been long-term prisoners of war. METHODS Routine seminal fluid analyses were undertaken in former prisoners with suspected infertility attending the Ramadi Infertility Clinic, Ramadi, Iraq; semen samples were also microscopically evaluated in these patients. RESULTS In 16 out of 38 patients (...

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypi...

Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.

The TP53, a transcriptional regulator and tumor suppressor, is functionally important in spermatogenesis. MDM2 is a key regulator of the p53 pathway and modulates p53 activity. Both proteins have been functionally linked to germ cell apoptosis, which may affect human infertility, but very little is known on how common polymorphisms in these genes may influence germ cell apoptosis and the risk o...