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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
TLDR
An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.
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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
TLDR
It is concluded that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.
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Teratozoospermia: spotlight on the main genetic actors in the human.
TLDR
Molecular studies of numerous unrelated patients with globozoospermia and large-headed spermatozoa confirmed that mutations in DPY19L2 and AURKC are mainly responsible for their respective pathological phenotype, strengthening the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary dyskinesia.
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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human
TLDR
TRDN is identified as a new gene responsible for an autosomal recessive form of CPVT, and the mutations identified in the two families lead to the absence of the protein, thereby demonstrating the importance of triadin for the normal function of the cardiac calcium release complex in humans.
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The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
TLDR
It is demonstrated here by flow cytometry that all spermatozoa have in fact a homogeneous 4C DNA content and are thus all blocked before the first meiotic division, indicating that a functional AURKC protein is necessary for male meiotic cytokinesis while its absence does not impair oogenesis.
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A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
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Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.
TLDR
It is shown that chromatin compaction during spermiogenesis in Dpy19l2 KO mouse is defective and leads to sperm DNA damage, which explains the poor fertilization potential of DPY19L2-globozoospermic sperm and the compromised developmental potential of embryos obtained using sperm from patients with a deletion of the DPY 19L2 gene.
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Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus
TLDR
The absence of Dpy19l2 leads to the destabilization of both the nuclear dense lamina (NDL) and the junction between the acroplaxome and the nuclear envelope leading to the disruption of vesicular trafficking, failure of sperm nuclear shaping and eventually to the elimination of the unbound acrosomal vesicle.
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DPY19L2 deletion as a major cause of globozoospermia.
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