Motile ciliopathies
J Wallmeier, KG Nielsen, CE Kuehni… - Nature reviews Disease …, 2020 - nature.com
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
Sperm defects in primary ciliary dyskinesia and related causes of male infertility
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
The genetic architecture of morphological abnormalities of the sperm tail
A Touré, G Martinez, ZE Kherraf, C Cazin, J Beurois… - Human Genetics, 2021 - Springer
Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …
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 …
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice
X He, C Liu, X Yang, M Lv, X Ni, Q Li, H Cheng… - The American Journal of …, 2020 - cell.com
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of
asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated …
asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated …
Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice
C Coutton, G Martinez, ZE Kherraf, A Amiri-Yekta… - The American Journal of …, 2019 - cell.com
Male infertility is a major health concern. Among its different causes, multiple morphological
abnormalities of the flagella (MMAF) induces asthenozoospermia and is one of the most …
abnormalities of the flagella (MMAF) induces asthenozoospermia and is one of the most …
[HTML][HTML] A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
Asthenozoospermia is a common cause of male infertility, but its etiology remains
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …
The role of genetics and oxidative stress in the etiology of male infertility—a unifying hypothesis?
Despite the high prevalence of male infertility, very little is known about its etiology. In recent
years however, advances in gene sequencing technology have enabled us to identify a …
years however, advances in gene sequencing technology have enabled us to identify a …
Genomics of adaptive evolution in the woolly mammoth
Ancient genomes provide a tool to investigate the genetic basis of adaptations in extinct
organisms. However, the identification of species-specific fixed genetic variants requires the …
organisms. However, the identification of species-specific fixed genetic variants requires the …