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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Guillaume Martinez, Zine-Eddine Kherraf, Raoudha Zouari, Selima Fourati Ben Mustapha, Antoine Saut, Karin Pernet-Gallay, Anne Bertrand, Marie Bidart, Jean Pascal Hograindleur, Amir Amiri-Yekta, Mahmoud Kharouf, Thomas Karaouzène, Nicolas Thierry-Mieg, Denis Dacheux-Deschamps, Véronique Satre, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray, Charles Coutton, 13.08.2018

MARTINEZ, Guillaume, et al. Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. Human Reproduction, 2018, 33. Jg., Nr. 10, S. 1973-1984.

Publication: https://doi.org/10.1093/humrep/dey264

Disclaimer

The publication Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella by Guillaume Martinez, Zine-Eddine Kherraf, Raoudha Zouari, Selima Fourati Ben Mustapha, Antoine Saut, Karin Pernet-Gallay, Anne Bertrand, Marie Bidart, Jean Pascal Hograindleur, Amir Amiri-Yekta, Mahmoud Kharouf, Thomas Karaouzène, Nicolas Thierry-Mieg, Denis Dacheux-Deschamps, Véronique Satre, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray, Charles Coutton 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: Whole Exome Sequencing

Species

Species
Human

Conditions

Human phenotype ontology Participants Comment
HP:0012864: Abnormal sperm morphology 78 All patients presented with a typical MMAF phenotype defined by asthenozoospermia (total motility <40%) with >5% of at least three flagellar morphological abnormalities (absent, short, coiled, bent and irregular flagella).

Cell Types

Cell ontology Maturity Description Species Replicates Cells per replicate
CL_0000019: sperm Adult human