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authIdHal_s : aminata-toure

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
Conference poster hal-02746829v1

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⟩
Journal articles 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⟩
Journal articles hal-02350874v1

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⟩
Journal articles 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
Conference papers inserm-03922541v1

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⟩
Journal articles 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⟩
Journal articles hal-03004959v1
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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⟩
Journal articles 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⟩
Journal articles hal-02322935v1
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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.

Mariem Ben Khelifa , Charles Coutton , Raoudha Zouari , Thomas Karaouzène , John Rendu et al.
American Journal of Human Genetics, 2014, 94 (1), pp.95-104. ⟨10.1016/j.ajhg.2013.11.017⟩
Journal articles pasteur-01061012v1

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⟩
Journal articles istex hal-00746744v1

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⟩
Journal articles 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⟩
Journal articles hal-01129777v1

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

Frederick Dong , Amir Amiri-Yekta , Guillaume Martinez , Antoine Saut , Julie Tek et al.
American Journal of Human Genetics, 2018, 102 (4), pp.636 - 648. ⟨10.1016/j.ajhg.2018.03.007⟩
Journal articles hal-01877985v1

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⟩
Journal articles inserm-03875562v1
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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⟩
Journal articles hal-02456263v1

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.

Charles Coutton , Alexandra S. Vargas , Amir Amiri-Yekta , Zine-Eddine Kherraf , Selima Fourati Ben Mustapha et al.
Nature Communications, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Journal articles hal-01724640v1
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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

Patrick Lorès , Zine-Eddine Kherraf , Amir Amiri-Yekta , Marjorie Whitfield , Abbas Daneshipour et al.
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Journal articles hal-03369854v1
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Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

Caroline Cazin , Yasmine Boumerdassi , Guillaume Martinez , Selima Fourati Ben Mustapha , Marjorie Whitfield et al.
International Journal of Molecular Sciences, 2021, 22 (4), pp.2187. ⟨10.3390/ijms22042187⟩
Journal articles hal-03365058v1
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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Patrick Lorès , Denis Dacheux , Zine-Eddine Kherraf , Jean-Fabrice Nsota Mbango , Charles Coutton et al.
American Journal of Human Genetics, 2019, ⟨10.1016/j.ajhg.2019.10.007⟩
Journal articles hal-02370384v1

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.

Thassadite Dirami , Baptiste Rode , Mathilde Jollivet , Nathalie da Silva , Denise Escalier et al.
American Journal of Human Genetics, 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
Journal articles hal-00990664v1

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

Jean-Fabrice Nsota Mbango , Charles Coutton , Christophe Arnoult , Pierre Ray , Aminata Touré et al.
Basic and clinical andrology, 2019, 29 (1), ⟨10.1186/s12610-019-0083-9⟩
Journal articles hal-02350815v1

Sperm Ion Transporters and Channels in Human Asthenozoospermia: Genetic Etiology, Lessons from Animal Models, and Clinical Perspectives

Emma Cavarocchi , Marjorie Whitfield , Fabrice Saez , Aminata Touré
International Journal of Molecular Sciences, 2022, 23 (7), pp.3926. ⟨10.3390/ijms23073926⟩
Journal articles hal-03873457v1

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.
ESHG 2022, Jun 2022, Vienne, Austria
Conference poster inserm-03845363v1
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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⟩
Journal articles hal-03365264v1

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
Conference papers inserm-03951614v1

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⟩
Journal articles hal-01877993v1
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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, In press, pp.101473. ⟨10.1016/j.beem.2020.101473⟩
Journal articles hal-03004973v1
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Male Infertility: Genetics, Mechanism, and Therapies

Charles Coutton , Rafael A Fissore , Gianpiero D Palermo , Katrien Stouffs , Aminata Touré et al.
BioMed Research International , 2016, 2016, ⟨10.1155/2016/7372362⟩
Journal articles 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⟩
Journal articles hal-02350846v1