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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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Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility

Science (American Association for the Advancement of Science), 2021-01, Vol.371 (6525)

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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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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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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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

American journal of human genetics, 2018-04, Vol.102 (4), p.636-648

2018

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DNALI1 interacts with the MEIG1/PACRG complex within the manchette and is required for proper sperm flagellum assembly in mice

eLife, 2023-04, Vol.12

2023

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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

American journal of human genetics, 2021-02, Vol.108 (2), p.309-323

2021

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Genetics of teratozoospermia: Back to the head

Best Practice & Research Clinical Endocrinology & Metabolism, 2020-12, Vol.34 (6), p.101473, Article 101473

2020

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

American journal of human genetics, 2016-08, Vol.99 (2), p.489-500

2016

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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

Human genetics, 2021-09, Vol.140 (9), p.1367-1377

2021

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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Human reproduction (Oxford), 2018-10, Vol.33 (10), p.1973-1984

2018

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Effects of environmental cadmium and lead exposure on adults neighboring a discharge: Evidences of adverse health effects

Environmental pollution (1987), 2015-11, Vol.206, p.247-255

2015

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Household level of air pollution and its impact on the occurrence of Acute Respiratory Illness among children under five: secondary analysis of Demographic and Health Survey in West Africa

BMC public health, 2022-12, Vol.22 (1), p.2327-2327, Article 2327

2022

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Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

American journal of human genetics, 2012-11, Vol.91 (5), p.958-964

2012

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Inactivation of AMPKα1 Induces Asthenozoospermia and Alters Spermatozoa Morphology

Endocrinology (Philadelphia), 2012-07, Vol.153 (7), p.3468-3481

2012

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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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CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans

Clinical genetics, 2024-03, Vol.105 (3), p.317-322

2024

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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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Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

Clinical genetics, 2019-11, Vol.96 (5), p.394-401

2019

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Renal impairment assessment on adults living nearby a landfill: Early kidney dysfunction biomarkers linked to the environmental exposure to heavy metals

Toxicology reports, 2021-01, Vol.8, p.386-394

2021

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The genetic architecture of morphological abnormalities of the sperm tail

Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility

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

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

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

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

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

DNALI1 interacts with the MEIG1/PACRG complex within the manchette and is required for proper sperm flagellum assembly in mice

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

Genetics of teratozoospermia: Back to the head

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome

Effects of environmental cadmium and lead exposure on adults neighboring a discharge: Evidences of adverse health effects

Household level of air pollution and its impact on the occurrence of Acute Respiratory Illness among children under five: secondary analysis of Demographic and Health Survey in West Africa

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

Inactivation of AMPKα1 Induces Asthenozoospermia and Alters Spermatozoa Morphology

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

CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans

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

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

Renal impairment assessment on adults living nearby a landfill: Early kidney dysfunction biomarkers linked to the environmental exposure to heavy metals

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