Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella
about
The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertilityTCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa.Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.Recent advances in primary ciliary dyskinesia genetics.Variation in DNAH1 may contribute to primary ciliary dyskinesiaGenome-wide analysis of positively selected genes in seasonal and non-seasonal breeding speciesA frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattleAssessment of the frequency of sperm annulus defects in a large cohort of patients presenting asthenozoospermiaMacrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian populationThe control of male fertility by spermatid-specific factors: searching for contraceptive targets from spermatozoon's head to tail.The evolving spectrum of ciliopathies and respiratory disease.Another look at human sperm morphology.Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017.Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.Proteomic analysis of mature and immature ejaculated spermatozoa from fertile men.SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.Defining the mechanisms by which the reactive oxygen species by-product, 4-hydroxynonenal, affects human sperm cell function.Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".Intracytoplasmic sperm injection outcomes in Chinese men with multiple morphological abnormalities of sperm flagella.Morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China.Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.Natural selection shaped the rise and fall of passenger pigeon genomic diversity.Homozygous deletion of SUN5 in three men with decapitated spermatozoa.Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).Successful intracytoplasmic sperm injection with testicular spermatozoa from a man with multiple morphological abnormalities of the sperm flagella: a case report.Formation and function of sperm tail structures in association with sperm motility defects.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice.Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects.PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male InfertilityGenetic dissection of bull fertility in US Jersey dairy cattle
P2860
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P2860
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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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2014 թվականի հունվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
@ast
Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
@en-gb
Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
@ast
Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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Mutations in DNAH1, which enco ...... malities of the sperm flagella
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P2093
P2860
P50
P1476
Mutations in DNAH1, which enco ...... malities of the sperm flagella
@en
P2093
Denise Escalier
Didier Grunwald
John Rendu
Julie Delaroche
Karine Pernet-Gallay
Marie Bidart
Mariem Ben Khelifa
Pierre-Simon Jouk
Raoudha Zouari
Sandra Yassine
P2860
P304
P356
10.1016/J.AJHG.2013.11.017
P407
P577
2013-12-19T00:00:00Z