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

Charles Coutton, Alexandra Vargas, Amir Amiri‐Yekta, +42

Nature Communications

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

Frederick N. Dong, Amir Amiri‐Yekta, Guillaume Martinez, +18

The American Journal of Human Genetics

BiologyInfertilityAndrologyFertilityGenetics +12

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

Patrick Lorès, Charles Coutton, Elma El Khouri, +22

Human Molecular Genetics

SpermatogenesisMotile CiliaGeneticsMultiple Morphological AnomaliesPathology +19

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson, +23

The American Journal of Human Genetics

Hsp40 Family MemberGenetic DisorderGeneticsPathogenesisPathology +4

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation

Baptiste Rode, Thassadite Dirami, Naziha Bakouh, +13

Human Molecular Genetics

Pancreatic expression of human insulin gene in transgenic mice.

Danielle Bucchini, Marie‐Anne Ripoche, Marie‐Georges Stinnakre, +7

Proceedings of the National Academy of Sciences

Transgenic Mouse ModelsGeneticsMolecular GeneticsInsulin SignalingHuman Insulin Mrna +14

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Patrick Lorès, Denis Dacheux, Zine‐Eddine Kherraf, +33

The American Journal of Human Genetics

BiologyInfertilityAndrologyDevelopmental BiologyGenetics +6

Absence of annulus in human asthenozoospermia: Case Report†

Pierre Lhuillier, Baptiste Rode, Denise Escalier, +6

Human Reproduction

Enhanced apoptosis in the thymus of transgenic mice expressing constitutively activated forms of human Rac2GTPase

Patrick Lorès, Laurence Morin, Rosa Luna, +1

Oncogene

Knockout MouseEnhanced ApoptosisSignal TransductionHuman Rac2gtpaseApoptosis +7

Pre-B-cell development in the absence of λ5 in transgenic mice expressing a heavy-chain disease protein

Daniel Corcos, Olga Dunda, Cécile Butor, +4

Current Biology

ImmunogeneticsDevelopmental BiologyLymphocyte DevelopmentImmune Cell DevelopmentHeavy-chain Disease Protein +11