Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations, Hum Reprod Oxf Engl, vol.31, pp.2872-2880, 2016. ,
Loss of Calmodulin-and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men, Am J Hum Genet, vol.103, pp.413-420, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01975654
Gene deletions in an infertile man with sperm fibrous sheath dysplasia, Hum Reprod Oxf Engl, vol.20, pp.2790-2794, 2005. ,
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella, Am J Hum Genet, vol.94, pp.95-104, 2014. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01061012
Teratozoospermia: spotlight on the main genetic actors in the human, Hum Reprod Update, vol.21, pp.455-485, 2015. ,
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice, Am J Hum Genet, vol.104, pp.331-340, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02003335
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human, Nat Commun, vol.9, p.686, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01724640
CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes, p.123455, 2017. ,
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse, Am J Hum Genet, vol.102, pp.636-648, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01877985
An axonemal PP2A B-subunit is required for PP2A localization and flagellar motility ,
, Cytoskelet Hoboken NJ, vol.68, pp.363-372, 2011.
The I1 dynein-associated tether and tether head complex is a conserved regulator of ciliary motility, Mol Biol Cell, vol.29, pp.1048-1059, 2018. ,
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans, Science, vol.348, pp.648-660, 2015. ,
The CSC connects three major axonemal complexes involved in dynein regulation, Mol Biol Cell, vol.23, pp.3143-3155, 2012. ,
Molecular basis of sperm flagellar axonemes: structural and evolutionary aspects ,
, Ann N Y Acad Sci, vol.1101, pp.506-526, 2007.
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility, Am J Hum Genet, vol.103, pp.400-412, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01863586
Genetics of male infertility, Nat Rev Urol, vol.15, pp.369-384, 2018. ,
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice, Am J Hum Genet, vol.104, pp.738-748, 2019. ,
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia, Hum Mol Genet, vol.27, pp.1196-1211, 2018. ,
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella, Hum Reprod Oxf Engl, vol.33, pp.1973-1984, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01877993
Calaxin drives sperm chemotaxis by Ca 2+ -mediated direct modulation of a dynein motor, Proc Natl Acad Sci U S A, vol.109, pp.20497-20502, 2012. ,
Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells, J Cell Biol, vol.156, pp.87-99, 2002. ,
Genetic abnormalities leading to qualitative defects of sperm morphology or function, Clin Genet, vol.91, pp.217-232, 2017. ,
Sperm antigen 6 is the murine homologue of the Chlamydomonas reinhardtii central apparatus protein encoded by the PF16 locus, Biol Reprod, vol.62, pp.511-518, 2000. ,
Structure and function of mammalian cilia, Histochem Cell Biol, vol.129, pp.687-693, 2008. ,
A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF), Gene, vol.633, pp.48-53, 2017. ,
A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF), Gene, vol.633, pp.48-53, 2017. ,
CFAP70 Is a Novel Axoneme-Binding Protein That Localizes at the Base of the Outer Dynein Arm and Regulates Ciliary Motility, Cells, vol.7, issue.9, 2018. ,
Lossof-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella, Nat Commun, vol.10, p.433, 2019. ,
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella, Am J Hum Genet, vol.100, pp.854-864, 2017. ,
, UniProt: the universal protein knowledgebase, The UniProt Consortium, vol.45, pp.158-169, 2017.
Ciliary proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating, Cell Mol Life Sci CMLS, vol.75, pp.4479-4493, 2018. ,
The CSC proteins FAP61 and FAP251 build the basal substructures of radial spoke 3 in cilia, Mol Biol Cell, vol.26, pp.1463-1475, 2015. ,
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection, Hum Reprod Oxf Engl, vol.31, pp.1164-1172, 2016. ,
Variability in the morphologic assessment of human sperm: use of the strict criteria recommended by the World Health Organization in 2010, Fertil Steril, vol.101, pp.945-949, 2014. ,
Characterization of tetratricopeptide repeat-containing proteins critical for cilia formation and function, PloS One, vol.10, p.124378, 2015. ,