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Proto-genes and de novo gene birth.

Anne-Ruxandra Carvunis , Thomas Rolland , Ilan Wapinski , Michael A Calderwood , Muhammed A Yildirim , et al.
Nature, 2012, 487 (7407), pp.370-4. ⟨10.1038/nature11184⟩
Article dans une revue hal-00807351v1

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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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

C. Coutton , G. Martinez , Z.-E. Kherraf , A. Amiri-Yekta , M. Boguenet , et al.
American Journal of Human Genetics, 2019, 104 (2), pp.331-340. ⟨10.1016/j.ajhg.2018.12.013⟩
Article dans une revue hal-02003335v1

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population.

Charles Coutton , Farid Abada , Thomas Karaouzene , Damien Sanlaville , Véronique Satre , et al.
PLoS Genetics, 2013, 9 (3), pp.e1003363. ⟨10.1371/journal.pgen.1003363⟩
Article dans une revue hal-00809646v1
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PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

Marie Christou‐kent , Zine‐eddine Kherraf , Amir Amiri‐yekta , Emilie Le Blévec , Thomas Karaouzène , et al.
EMBO Molecular Medicine, 2018, 10 (5), pp.e8515. ⟨10.15252/emmm.201708515⟩
Article dans une revue hal-01877992v1
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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
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MatrixDB: integration of new data with a focus on glycosaminoglycan interactions

Olivier Clerc , Madeline Deniaud , Sylvain Vallet , Alexandra Naba , Alain Rivet , et al.
Nucleic Acids Research, 2019, 47 (D1), pp.D376-D381. ⟨10.1093/nar/gky1035⟩
Article dans une revue hal-02109904v1
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Encompassing new use cases - level 3.0 of the HUPO-PSI format for molecular interactions

M. Sivade , D. Alonso-López , M. Ammari , G. Bradley , N. Campbell , et al.
BMC Bioinformatics, 2018, 19 (1), ⟨10.1186/s12859-018-2118-1⟩
Article dans une revue hal-01877988v1
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The [PSI+] prion and HSP104 modulate cytochrome c oxidase deficiency caused by deletion of COX12

Pawan Kumar Saini , Hannah Dawitz , Andreas Aufschnaiter , Jinsu Thomas , Amélie Amblard , et al.
2021
Pré-publication, Document de travail hal-03402829v1

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
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New insights into protein-protein interaction data lead to increased estimates of the S. cerevisiae interactome size.

Laure Sambourg , Nicolas Thierry-Mieg
BMC Bioinformatics, 2010, 11, pp.605. ⟨10.1186/1471-2105-11-605⟩
Article dans une revue hal-00807360v1

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

Pooling in systems biology becomes smart.

Nicolas Thierry-Mieg
Nature Methods, 2006, 3 (3), pp.161-2. ⟨10.1038/nmeth0306-161⟩
Article dans une revue hal-00198318v1

Mapping interactomes with high coverage and efficiency using the shifted transversal design.

Xiaofeng Xin , Charles Boone , Nicolas Thierry-Mieg
Methods in Molecular Biology, 2012, 812, pp.147-59. ⟨10.1007/978-1-61779-455-1_8⟩
Article dans une revue hal-00807350v1

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Jessica Escoffier , Hoi Chang Lee , Sandra Yassine , Raoudha Zouari , Guillaume Martinez , et al.
Human Molecular Genetics, 2016, 25 (5), pp.878 - 891. ⟨10.1093/hmg/ddv617⟩
Article dans une revue hal-01877966v1
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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⟩
Article dans une revue pasteur-01061012v1

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⟩
Article dans une revue hal-01877985v1
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Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Tristan Celse , Caroline Cazin , Flore Mietton , Guillaume Martinez , Delphine Martinez , et al.
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Article dans une revue hal-03025179v1
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From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Zine-Eddine Kherraf , Caroline Cazin , Florence Lestrade , Jana Muronova , Charles Coutton , et al.
Asian Journal of Andrology, 2022, 24 (3), pp.243-247. ⟨10.4103/aja202194⟩
Article dans une revue hal-03720221v1
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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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MatrixDB, the extracellular matrix interaction database: updated content, a new navigator and expanded functionalities

G. Launay , R. Salza , D. Multedo , Nicolas Thierry-Mieg , S. Ricard-Blum
Nucleic Acids Research, 2015, 43 (D1), pp.D321 - D327. ⟨10.1093/nar/gku1091⟩
Article dans une revue hal-01877957v1
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Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

Denis Dacheux , Guillaume Martinez , Christine Broster Reix , Julie Beurois , Patrick Lorès , et al.
Article dans une revue hal-04241708v1
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A new pooling strategy for high-throughput screening: the Shifted Transversal Design.

Nicolas Thierry-Mieg
BMC Bioinformatics, 2006, 7, pp.28. ⟨10.1186/1471-2105-7-28⟩
Article dans une revue hal-00198315v1
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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

Guillaume Martinez , Anne-Laure Barbotin , Caroline Cazin , Zeina Wehbe , Angèle Boursier , et al.
International Journal of Molecular Sciences, 2023, 24 (3), pp.2559. ⟨10.3390/ijms24032559⟩
Article dans une revue hal-04011973v1
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The [PSI + ] prion modulates cytochrome c oxidase deficiency caused by deletion of COX12

Pawan Kumar Saini , Hannah Dawitz , Andreas Aufschnaiter , Stanislav Bondarev , Jinsu Thom , et al.
Molecular Biology of the Cell, 2022, ⟨10.1091/mbc.E21-10-0499⟩
Article dans une revue hal-03836554v1

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

Alicia Coudert , Caroline Cazin , Amir Amiri-Yekta , Selima Fourati Ben Mustapha , Raoudha Zouari , et al.
International Journal of Genetics and Genomics, 2023, 50 (7), pp.536-540. ⟨10.1016/j.jgg.2023.04.007⟩
Article dans une revue hal-04256999v2
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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⟩
Article dans une revue 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⟩
Article dans une revue hal-03365058v1
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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Jana Muroňová , Zine-Eddine Kherraf , Elsa Giordani , Simon Eckert , Caroline Cazin , et al.
Article dans une revue hal-04236524v1