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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

24 Jan 2019

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Reproductive Biology and Fertility
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30686508
DOI: 10.1016/j.ajhg.2018.12.013

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Related research

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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and MicePMID 30686508Read ↗

Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and miceSemantic proximity Read ↗

Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagellaSemantic proximity Read ↗

Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.Semantic proximity Read ↗

A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.Semantic proximity Read ↗

A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.Semantic proximity Read ↗

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.Semantic proximity Read ↗

Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection.Semantic proximity Read ↗

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defectsSemantic proximity Read ↗

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies.Semantic proximity Read ↗

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