Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
Charles Coutton, Guillaume Martinez, Zine-Eddine Kherraf, Amir Amiri-Yekta, Magalie Boguenet, Antoine Saut, Xiaojin He, Feng Zhang, Marie Cristou-Kent, Jessica Escoffier, Marie Bidart, Ve ́ronique Satre, Be ́atrice Conne, Selima Fourati Ben Mustapha, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Karin Pernet-Gallay, Me ́lanie Bonhivers, Sylviane Hennebicq, Nathalie Rives, Emmanuel Dulioust, Aminata Toure ́, Hamid Gourabi,4 Yunxia Cao, Raoudha Zouari, Seyedeh Hanieh Hosseini, Serge Nef, Nicolas Thierry-Mieg, Christophe Arnoult and Pierre F. Ray, 24.01.2019
COUTTON, Charles, et al. Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice. The American Journal of Human Genetics, 2019, 104. Jg., Nr. 2, S. 331-340.
Publication: https://doi.org/10.1016/j.ajhg.2018.12.013
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The publication Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice by Charles Coutton, Guillaume Martinez, Zine-Eddine Kherraf, Amir Amiri-Yekta, Magalie Boguenet, Antoine Saut, Xiaojin He, Feng Zhang, Marie Cristou-Kent, Jessica Escoffier, Marie Bidart, Ve ́ronique Satre, Be ́atrice Conne, Selima Fourati Ben Mustapha, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Karin Pernet-Gallay, Me ́lanie Bonhivers, Sylviane Hennebicq, Nathalie Rives, Emmanuel Dulioust, Aminata Toure ́, Hamid Gourabi,4 Yunxia Cao, Raoudha Zouari, Seyedeh Hanieh Hosseini, Serge Nef, Nicolas Thierry-Mieg, Christophe Arnoult and Pierre F. Ray is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1:
Exome: Functional Study
Species
Species |
---|
Human |
Conditions
Human phenotype ontology | Participants | Comment |
---|---|---|
HP:0012864: Abnormal sperm morphology | 168 | Whole-exome sequencing (WES) was performed on 168 infertile men who had a typical MMAF phenotype. |
Cell Types
Cell ontology | Maturity | Description | Species | Replicates | Cells per replicate |
---|---|---|---|---|---|
CL_0000019: sperm | Adult | human |