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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.
Article dans une revue
hal-00807351v1
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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.
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.
Article dans une revue
hal-02003335v1
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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.
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.
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.
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.
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.
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.
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
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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.
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
Article dans une revue
hal-00807360v1
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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.
Article dans une revue
hal-02347512v1
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Pooling in systems biology becomes smart.
Nicolas Thierry-Mieg
Article dans une revue
hal-00198318v1
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Mapping interactomes with high coverage and efficiency using the shifted transversal design.
Xiaofeng Xin
,
Charles Boone
,
Nicolas Thierry-Mieg
Article dans une revue
hal-00807350v1
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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.
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.
Article dans une revue
pasteur-01061012v1
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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.
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.
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.
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.
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
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
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.
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.
Article dans une revue
hal-03836554v1
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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.
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.
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.
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
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