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) …
Understanding the genetics of human infertility
Q Sang, PF Ray, L Wang - Science, 2023 - science.org
Reproduction involves a wide range of biological processes, including organ formation and
development, neuroendocrine regulation, hormone production, and meiosis and mitosis …
development, neuroendocrine regulation, hormone production, and meiosis and mitosis …
[HTML][HTML] Functional unknomics: Systematic screening of conserved genes of unknown function
JJ Rocha, SA Jayaram, TJ Stevens, N Muschalik… - PLoS …, 2023 - journals.plos.org
The human genome encodes approximately 20,000 proteins, many still uncharacterised. It
has become clear that scientific research tends to focus on well-studied proteins, leading to …
has become clear that scientific research tends to focus on well-studied proteins, leading to …
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 …
Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility
Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …
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 …
have been identified in multiple morphological abnormalities of the flagella (MMAF) can only …
Infertility in men: advances towards a comprehensive and integrative strategy for precision theranostics
M Assidi - Cells, 2022 - mdpi.com
Male infertility is an increasing and serious medical concern, though the mechanism
remains poorly understood. Impaired male reproductive function affects approximately half …
remains poorly understood. Impaired male reproductive function affects approximately half …
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 …