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

 Sudarshan Gadadhar , Gonzalo Alvarez Viar , Jan Niklas Hansen , An Gong , Aleksandr Kostarev , et al.
Science, 2021, 371 (6525), pp.eabd4914. ⟨10.1126/science.abd4914⟩
Article dans une revue hal-03323742v1
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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia.

 Julie Beurois , Guillaume Martinez , Caroline Cazin , Zine-Eddine Kherraf , Amir Amiri-Yekta , et al.
Human Reproduction, 2019, 96 (5), pp.394-401. ⟨10.1093/humrep/dez166⟩
Article dans une revue hal-02322935v1
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

 Marjorie Whitfield , Lucie Thomas , Emilie Bequignon , Alain Schmitt , Laurence Stouvenel , et al.
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
Article dans une revue hal-02315263v1

The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse.

 Aminata Touré , Pierre Lhuillier , Jan A. Gossen , Cor W. Kuil , David Lhôte , et al.
Human Molecular Genetics, 2007, 16 (15), pp.1783-93. ⟨10.1093/hmg/ddm117⟩
Article dans une revue hal-00686383v1

Importance of SLC26 Transmembrane Anion Exchangers in Sperm Post-testicular Maturation and Fertilization Potential

 Aminata Touré
Frontiers in Cell and Developmental Biology, 2019, 7, ⟨10.3389/fcell.2019.00230⟩
Article dans une revue hal-02350779v1

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

 Fadwa Jreijiri , Emma Cavarocchi , Amir Amiri-Yekta , Caroline Cazin , Seyedeh‐hanieh Hosseini , et al.
Clinical Genetics, 2023, ⟨10.1111/cge.14459⟩
Article dans une revue hal-04298861v1
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Assessment of the frequency of sperm annulus defects in a large cohort of patients presenting asthenozoospermia

 Thassadite Dirami , Baptiste Rode , Jean-Philippe Wolf , Gérard Gacon , Emmanuel Dulioust , et al.
Basic and clinical andrology, 2015, 25, pp.10 (eCollection 2015). ⟨10.1186/s12610-015-0026-z⟩
Article dans une revue inserm-01244340v1

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

 Lucile Ferreux , Mathilde Bourdon , Ahmed Chargui , Alain Schmitt , Laurence Stouvenel , et al.
Human Reproduction, 2021, 36 (11), pp.2848-2860. ⟨10.1093/humrep/deab200⟩
Article dans une revue hal-03873460v1
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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

 Patrick Lorès , Charles Coutton , Elma El Khouri , Laurence Stouvenel , Maelle Givelet , et al.
Human Molecular Genetics, 2018, 27 (7), pp.1196-1211. ⟨10.1093/hmg/ddy034⟩
Article dans une revue hal-02346745v1

Involvement of AMPK in testicular function

 Pauline Tartarin , Edith Guibert , Aminata Touré , Marc Foretz , Joëlle Dupont , et al.
94. Annual Meeting of the Endocrine Society, Jun 2012, Houston, United States. Endocrine Society, Endocrine Reviews, 33 (Supplement 3), 2012, Endocrine Society's 94th Annual Meeting
Poster de conférence hal-02746829v1

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

 Zine‐eddine Kherraf , Caroline Cazin , Charles Coutton , Amir Amiri‐yekta , Guillaume Martinez , et al.
Clinical Genetics, 2019, 96 (5), pp.394-401. ⟨10.1111/cge.13604⟩
Article dans une revue hal-02347512v1

TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

 Lucie Thomas , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , André Coste , et al.
Assises de Génétique, Feb 2022, Rennes (FR), France
Communication dans un congrès inserm-03922541v1

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

 Zine-Eddine Kherraf , Amir Amiri-Yekta , Denis Dacheux , Thomas Karaouzène , Charles Coutton , et al.
American Journal of Human Genetics, 2018, 103 (3), pp.400-412. ⟨10.1016/j.ajhg.2018.07.014⟩
Article dans une revue hal-01863586v1

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

 Graciane Petre , Patrick Lorès , Hervé Sartelet , Aurélie Truffot , Brice Poreau , et al.
Clinical Genetics, 2018, 94 (6), pp.575-580. ⟨10.1111/cge.13449⟩
Article dans une revue hal-02350874v1
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Etude du polymorphisme génétique de la N-Acétyltransférase de type 2 dans la population sénégalaise : prévention de la toxicité et de l’échec thérapeutique de l’isoniazide dans la prise en charge de la tuberculose

 Aminata Touré
Médecine humaine et pathologie. Université du Droit et de la Santé - Lille II, 2012. Français. ⟨NNT : 2012LIL2S042⟩
Thèse tel-00872736v1

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

 Chunyu Liu , Haruhiko Miyata , Yang Gao , Yanwei Sha , Shuyan Tang , et al.
American Journal of Human Genetics, 2020, 107 (2), pp.330-341. ⟨10.1016/j.ajhg.2020.06.004⟩
Article dans une revue hal-03004971v1
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

 Guillaume Martinez , Julie Beurois , Denis Dacheux , Caroline Cazin , Marie Bidart , et al.
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Article dans une revue hal-03004959v1
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Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

 Emma Cavarocchi , Camille Sayou , Patrick Lorès , Caroline Cazin , Laurence Stouvenel , et al.
iScience, 2023, 26 (8), pp.107354. ⟨10.1016/j.isci.2023.107354⟩
Article dans une revue hal-04235375v1

Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes

 Lucie Thomas , Marjorie Whitfield , Émilie Béquignon , Alain Schmitt , Laurence Stouvenel , et al.
Assises de génétique humaine et médicale, Jan 2020, Tours, France
Communication dans un congrès inserm-03951614v1
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Male Infertility: Genetics, Mechanism, and Therapies

 Charles Coutton , Rafael A Fissore , Gianpiero D Palermo , Katrien Stouffs , Aminata Touré
BioMed Research International , 2016, 2016, ⟨10.1155/2016/7372362⟩
Article dans une revue inserm-01289296v1

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse

 Elma El Khouri , Marjorie Whitfield , Laurence Stouvenel , Archana Kini , Brigitte Riederer , et al.
Molecular Reproduction and Development, 2018, 85 (8-9), pp.682-695. ⟨10.1002/mrd.23055⟩
Article dans une revue hal-02350846v1
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The sodium/proton exchanger SLC9C1 ( sNHE ) is essential for human sperm motility and fertility

 Emma Cavarocchi , Marjorie Whitfield , Ahmed Chargui , Laurence Stouvenel , Patrick Lorès , et al.
Clinical Genetics, 2021, 99 (5), pp.684-693. ⟨10.1111/cge.13927⟩
Article dans une revue hal-03369825v1
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Genetics of teratozoospermia: Back to the head

 Julie Beurois , Caroline Cazin , Zine-Eddine Kherraf , Guillaume Martinez , Tristan Celse , et al.
Best Practice and Research: Clinical Endocrinology and Metabolism, 2020, 34 (6), pp.101473. ⟨10.1016/j.beem.2020.101473⟩
Article dans une revue hal-03004973v1
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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

 Qunshan Shen , Guillaume Martinez , Hongbin Liu , Julie Beurois , Huan Wu , et al.
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Article dans une revue hal-03365264v1

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

 Guillaume Martinez , Zine-Eddine Kherraf , Raoudha Zouari , Selima Fourati Ben Mustapha , Antoine Saut , et al.
Human Reproduction, 2018, 33 (10), pp.1973 - 1984. ⟨10.1093/humrep/dey264⟩
Article dans une revue hal-01877993v1

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

 Elma El Khouri , Lucie Thomas , Ludovic Jeanson , Emilie Bequignon , Benoit Vallette , et al.
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
Article dans une revue inserm-03875562v1

The genetic architecture of morphological abnormalities of the sperm tail

 Aminata Touré , Guillaume Martinez , Zine-Eddine Kherraf , Caroline Cazin , Julie Beurois , et al.
Human Genetics, 2020, ⟨10.1007/s00439-020-02113-x⟩
Article dans une revue hal-03004953v1
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Inactivation of AMPK alpha 1 Induces Asthenozoospermia and Alters Spermatozoa Morphology

 Pauline Tartarin , Edith Guibert , Aminata Toure , Claire Ouiste , Jocelyne Leclerc , et al.
Endocrinology, 2012, 153 (7), pp.3468 - 3481. ⟨10.1210/en.2011-1911⟩
Article dans une revue hal-01129777v1
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TTC12 loss-of-function mutations cause primary Ciliary Dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

 Lucie Thomas , Khaled Bouhouche , Marjorie Whitfield , Guillaume Thouvenin , Andre Coste , et al.
American Journal of Human Genetics, 2020, 106 (2), pp.153-169. ⟨10.1016/j.ajhg.2019.12.010⟩
Article dans une revue hal-02456263v1

Spermatozoa and Plasmodium zoites: the same way to invade oocyte and host cells?

 Aminata Touré , Gordon Langsley , Stéphane Egée
Microbes and Infection, 2012, 14 (10), pp.874-9. ⟨10.1016/j.micinf.2012.04.014⟩
Article dans une revue istex hal-00746744v1
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