Nicolas Thierry-Mieg

发表

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility

N. Thierry-Mieg, P. Santulli, P. Ray, 2021, Clinical genetics.

A novel pooling design for protein-protein interaction mapping

N. Thierry-Mieg, Laurent Trilling, Jean-Louis Roch, 2003 .

MatrixDB, a database focused on extracellular protein–protein and protein–carbohydrate interactions

Sylvie Ricard-Blum, Nicolas Thierry-Mieg, Emilie Chautard, 2009, Bioinform..

Protein interaction mapping in C. elegans using proteins involved in vulval development.

M. Vidal, J. Hartley, G. Temple, 2000, Science.

A model of elegance.

M. Vidal, N. Thierry-Mieg, H. Endoh, 1998, American journal of human genetics.

Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report.

N. Thierry-Mieg, P. Ray, A. Loundou, 2020, Human reproduction.

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

P. Ray, Caroline Cazin, A. Touré, 2023, Clinical Genetics.

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

N. Thierry-Mieg, B. Conne, P. Ray, 2019, American journal of human genetics.

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023, bioRxiv.

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

N. Thierry-Mieg, B. Conne, P. Jouk, 2018, Nature Communications.

Novel axonemal protein ZMYND12 is required for flagellum function and male fertility

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023 .

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

N. Thierry-Mieg, Kuokuo Li, F. Tao, 2021, Human Genetics.

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

N. Thierry-Mieg, P. Ray, Y. Fichou, 2020, Journal of Medical Genetics.

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

N. Thierry-Mieg, S. Brouillet, P. Ray, 2019, Human reproduction.

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

S. Geimer, P. Ray, N. Klena, 2023, bioRxiv.

Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B

N. Thierry-Mieg, P. Ray, S. Nef, 2021, Cells.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human genetics.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human Genetics.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Thomas Karaouzene, Nicolas Thierry-Mieg, Serge Nef, 2017, EMBO molecular medicine.

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

N. Thierry-Mieg, P. Jouk, F. Abada, 2013, PLoS genetics.

Lack of CCDC 146 , a ubiquitous centriole and microtubule-associated protein , 2 leads to non-syndromic male infertility in human and mouse 3 4 5

N. Thierry-Mieg, S. Geimer, P. Ray, 2023 .

Open-reading-frame sequence tags (OSTs) support the existence of at least 17,300 genes in C. elegans

T. Moore, M. Vidal, D. Hill, 2001, Nature Genetics.

Proto-genes and de novo gene birth

César A. Hidalgo, A. Regev, M. Vidal, 2012, Nature.

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

N. Thierry-Mieg, P. Ray, L. Raymond, 2022, American journal of human genetics.

Interaction networks as a tool to investigate the mechanisms of aging

N. Thierry-Mieg, S. Ricard-Blum, Emilie Chautard, 2010, Biogerontology.

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

P. Ray, Caroline Cazin, C. Coutton, 2022, Asian journal of andrology.

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

N. Thierry-Mieg, S. Brouillet, P. Ray, 2018, American journal of human genetics.

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

N. Thierry-Mieg, D. Grunwald, P. Jouk, 2014, American journal of human genetics.