Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Caroline Cazin"'
Autor:
Zine-Eddine Kherraf, Caroline Cazin, Amine Bouker, Selima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, Charles Coutton, Laure Raymond, Marc Nouchy, Nicolas Thierry-Mieg, Raoudha Zouari, Christophe Arnoult, Pierre F. Ray
Publikováno v:
Am J Hum Genet
Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often treated by testicular sperm extraction followed by intracytoplasmic sperm injection. The aim of this study is to improve the genetic diagnosis of NOA, by iden
Autor:
Ling Zhang, Parirokh Awasthi, Zine-Eddine Kherraf, Zhibing Zhang, Ven Natarajan, Yitian Yap, Wei Li, Bo Hu, Pancharatnam Jeyasuria, Pierre F. Ray, Qian Huang, Rex A. Hess, Caroline Cazin, James G. Granneman, Ljiljana Mladenovic-Lucas, Qi Zhou
Publikováno v:
Dev Biol
Intraflagellar transport (IFT) is an evolutionarily conserved mechanism essential for the assembly and maintenance of most eukaryotic cilia and flagella, including mammalian sperm tails. Depletion of IFT27, a component of the IFT complex, in male ger
Autor:
Zine-Eddine, Kherraf, Caroline, Cazin, Florence, Lestrade, Jana, Muronova, Charles, Coutton, Christophe, Arnoult, Nicolas, Thierry-Mieg, Pierre F, Ray
Publikováno v:
Asian journal of andrology. 24(3)
Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of patients and only for the m
Autor:
Caroline, Cazin, Yasmine, Neirijnck, Corinne, Loeuillet, Lydia, Wehrli, Françoise, Kühne, Isabelle, Lordey, Selima Fourati Ben, Mustapha, Amin, Bouker, Raoudha, Zouari, Nicolas, Thierry-Mieg, Serge, Nef, Christophe, Arnoult, Pierre F, Ray, Zine-Eddine, Kherraf
Publikováno v:
Cells
The genetic landscape of male infertility is highly complex. It is estimated that at least 4000 genes are involved in human spermatogenesis, but only few have so far been extensively studied. In this study, we investigated by whole exome sequencing t
Autor:
M. Dhellemmes, Magalie Boguenet, Yasmine Neirijnck, J. Muronova, Zine-Eddine Kherraf, Guillaume Martinez, G. Chevalier, Emeline Lambert, Jessica Escoffier, Serge Nef, Charles Coutton, Caroline Cazin, C. Vilpreux, Christophe Arnoult, C. Loeuillet, Jean-Pascal Hograindleur, Pierre F. Ray
Publikováno v:
eLife
eLife, 2022, 11, pp.e75373. ⟨10.7554/eLife.75373⟩
eLife, 2022, 11, pp.e75373. ⟨10.7554/eLife.75373⟩
Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4a48985b4c2af2c2e7f3f81088f437
https://doi.org/10.1101/2021.11.15.468601
https://doi.org/10.1101/2021.11.15.468601
Autor:
Yunxia Cao, Véronique Satre, Chunyu Liu, Charles Coutton, Qunshan Shen, Marjorie Whitfield, Kuokuo Li, Julie Beurois, Hongbin Liu, Xiaojin He, Dan Liang, Pierre F. Ray, Guillaume Martinez, Marie Bidart, Tristan Celse, Nicolas Thierry-Mieg, Huan Wu, Feng Zhang, Zine-Eddine Kherraf, Fangbiao Tao, Caroline Cazin, Christophe Arnoult, Mingrong Lv, Bing Song, Amir Amiri-Yekta, Aminata Touré
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, Springer Verlag, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
International audience; Spermatozoa are polarized cells with a head and a flagellum joined together by the connecting piece. Flagellum integrity is critical for normal sperm function, and flagellum defects consistently lead to male infertility. Multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0056c77d0a1bd6fcea6d737f3474c0fd
https://hal.archives-ouvertes.fr/hal-03365264
https://hal.archives-ouvertes.fr/hal-03365264
Autor:
Catherine Patrat, Patrick Lorès, Laurence Stouvenel, Marjorie Whitfield, Zine-Eddine Kherraf, Pierre F. Ray, Amir Amiri-Yekta, Raoudha Zouari, Caroline Cazin, Selima Fourati Ben Mustapha, Emma Cavarocchi, Christophe Arnoult, Seyedeh-Hanieh Hosseini, Aminata Touré, Marie-Astrid Llabador, Abbas Daneshipour, Lucile Ferreux, Charles Coutton, Nicolas Thierry-Mieg, Emmanuel Dulioust
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Human Genetics, Springer Verlag, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Human Genetics, Springer Verlag, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
International audience; Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5985f27ab7061d824c5749432dde7e2
https://hal.science/hal-03369854
https://hal.science/hal-03369854
Autor:
Caroline Cazin, Mingxi Liu, Siyu Liu, Shuya Sun, Charles Coutton, Selima Fourati Ben Mustapha, Christophe Arnoult, Raoudha Zouari, Pierre F. Ray, Fan Hu, Jintao Zhang, Shuqin Zhao, Zine Eddine Kherraf, Xin Zhang
Publikováno v:
Development (Cambridge, England). 148(23)
Defects in the structure or motility of cilia and flagella may lead to severe diseases such as primary ciliary dyskinesia (PCD), a multisystemic disorder with heterogeneous manifestations affecting primarily respiratory and reproductive functions. We
Autor:
Caroline Cazin, Pierre F. Ray, Christophe Arnoult, Seyedeh Hanieh Hosseini, Amir Amiri-Yekta, Nicolas Thierry-Mieg, Selima Fourati Ben Mustapha, Zine-Eddine Kherraf, Raoudha Zouari, Magalie Boguenet, Aminata Touré, Mahmoud Kharouf, Guillaume Martinez, Charles Coutton, Hamid Gourabi, Abbas Daneshipour
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2019, 96 (5), pp.394-401. ⟨10.1111/cge.13604⟩
Clinical Genetics, Wiley, 2019, 96 (5), pp.394-401. ⟨10.1111/cge.13604⟩
Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a severe male infertility phenotype which has so far been formally linked to the presence of biallelic mutations in nine genes mainly coding for axonemal proteins overexpressed
Autor:
Ségolène Veau, Gilles Schuler, Aline Papaxanthos, Julien Bessonnat, Marine Poulain, H. Lejeune, Laurent Pasquier, Rosalie Cabry, Raoudha Zouari, Amandine Septier, Flore Mietton, Myriam Chaabouni, Vincent Achard, Zine-Eddine Kherraf, Charles Coutton, Antoine Clergeau, Dominique Lauton, Christophe Sifer, Béatrice Dorphin, Catherine Guillemain, Mahmoud Kharouf, Tristan Celse, Sebti Benbouhadja, Nathalie Sermondade, Selima Fourati Ben Mustapha, Pierre F. Ray, Delphine Martinez, Bernard Foliguet, Julie Beurois, Valérie Mitchell, Guillaume Martinez, Abdelali Zoghmar, Véronique Satre, Ahmed Chargui, Gérard Tachdjian, Cynthia Frapsauce, Chema Triki, Sylviane Hennebicq, Jacques Puechberty, Caroline Cazin, Christophe Arnoult, Nicolas Thierry-Mieg, Lionel Mery
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-020-02229-0⟩
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
International audience; Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f529143440a28307c54a227d5849354
https://hal.archives-ouvertes.fr/hal-03025179
https://hal.archives-ouvertes.fr/hal-03025179