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Understanding the genetics of human infertility

Science (American Association for the Advancement of Science), 2023-04, Vol.380 (6641), p.158-163

2023

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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

American journal of human genetics, 2014-01, Vol.94 (1), p.95-104

2014

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The genetic architecture of morphological abnormalities of the sperm tail

Human genetics, 2021-01, Vol.140 (1), p.21-42

2021

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Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

American journal of human genetics, 2020-08, Vol.107 (2), p.330-341

2020

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Paternal epigenetics: Mammalian sperm provide much more than DNA at fertilization

Molecular and cellular endocrinology, 2020-12, Vol.518, p.110964-110964, Article 110964

2020

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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

American journal of human genetics, 2019-04, Vol.104 (4), p.738-748

2019

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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

Development (Cambridge), 2012-08, Vol.139 (16), p.2955-2965

2012

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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Human reproduction (Oxford), 2019-10, Vol.34 (10), p.2071-2079

2019

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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

American journal of human genetics, 2018-09, Vol.103 (3), p.400-412

2018

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3664

2023

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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

American journal of human genetics, 2019-12, Vol.105 (6), p.1148-1167

2019

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Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

American journal of human genetics, 2013-05, Vol.92 (5), p.760-766

2013

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A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

American journal of human genetics, 2011-03, Vol.88 (3), p.351-361

2011

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Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

Cells (Basel, Switzerland), 2020-03, Vol.9 (3), p.662

2020

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Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope

PloS one, 2015-03, Vol.10 (3), p.e0118698-e0118698

2015

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The essential role of intraflagellar transport protein IFT81 in male mice spermiogenesis and fertility

American Journal of Physiology: Cell Physiology, 2020-06, Vol.318 (6), p.C1092-C1106

2020

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From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Asian journal of andrology, 2022-05, Vol.24 (3), p.243-247

2022

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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

International journal of molecular sciences, 2023-02, Vol.24 (3), p.2559

2023

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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Nature genetics, 2007-05, Vol.39 (5), p.661-665

2007

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Treatment of Mouse Sperm with a Non-Catalytic Mutant of PLA2G10 Reveals That PLA2G10 Improves In Vitro Fertilization through Both Its Enzymatic Activity and as Ligand of PLA2R1

International journal of molecular sciences, 2022-07, Vol.23 (14), p.8033

2022

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Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

International journal of molecular sciences, 2021-02, Vol.22 (4), p.2187

2021

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Commentary on ＂morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China

Asian journal of andrology, 2016-09, Vol.18 (5), p.812-812

2016

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Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

Basic and clinical andrology, 2019-03, Vol.29 (1), p.2-2, Article 2

2019

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Understanding the genetics of human infertility

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

The genetic architecture of morphological abnormalities of the sperm tail

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

Paternal epigenetics: Mammalian sperm provide much more than DNA at fertilization

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

The essential role of intraflagellar transport protein IFT81 in male mice spermiogenesis and fertility

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Treatment of Mouse Sperm with a Non-Catalytic Mutant of PLA2G10 Reveals That PLA2G10 Improves In Vitro Fertilization through Both Its Enzymatic Activity and as Ligand of PLA2R1

Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

Commentary on ＂morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

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