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) …

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 …

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

A Sironen, A Shoemark, M Patel, MR Loebinger… - Cellular and Molecular …, 2020 - Springer
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 …

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 …

Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility

C Liu, H Miyata, Y Gao, Y Sha, S Tang, Z Xu… - The American Journal of …, 2020 - cell.com
Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …

A systematic review and standardized clinical validity assessment of male infertility genes

MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

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 …

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Y Shen, F Zhang, F Li, X Jiang, Y Yang, X Li… - Nature …, 2019 - nature.com
Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which
have been identified in multiple morphological abnormalities of the flagella (MMAF) can only …

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 …

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 …