CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

(2019) Ying Shen et al.   Nature Communications

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

(2019) Charles Coutton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

(2019) Wangjie Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2018) Frederick N. Dong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliary proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating

(2018) Paulina Urbanska et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2018) Patrick Lorès et al.   HUMAN MOLECULAR GENETICS

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

The I1 dynein-associated tether and tether head complex is a conserved regulator of ciliary motility

(2018) Gang Fu et al.   MOLECULAR BIOLOGY OF THE CELL

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

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

(2018) Charles Coutton et al.   Nature Communications

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

(2018) Yasmina Auguste et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

(2018) Zine-Eddine Kherraf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)

(2017) Yan-Wei Sha et al.   GENE

Genetic abnormalities leading to qualitative defects of sperm morphology or function

(2016) P.F. Ray et al.   CLINICAL GENETICS

Patients with multiple morphological abnormalities of the sperm flagella due toDNAH1mutations have a good prognosis following intracytoplasmic sperm injection

(2016) Clémentine Wambergue et al.   HUMAN REPRODUCTION

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Teratozoospermia: spotlight on the main genetic actors in the human

(2015) C. Coutton et al.   HUMAN REPRODUCTION UPDATE

The CSC proteins FAP61 and FAP251 build the basal substructures of radial spoke 3 in cilia

(2015) Paulina Urbanska et al.   MOLECULAR BIOLOGY OF THE CELL

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Variability in the morphologic assessment of human sperm: use of the strict criteria recommended by the World Health Organization in 2010

(2014) Yongxin Wang et al.   FERTILITY AND STERILITY

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The CSC connects three major axonemal complexes involved in dynein regulation

(2012) Thomas Heuser et al.   MOLECULAR BIOLOGY OF THE CELL

Calaxin drives sperm chemotaxis by Ca2+-mediated direct modulation of a dynein motor

(2012) K. Mizuno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An axonemal PP2A B-subunit is required for PP2A localization and flagellar motility

(2011) Candice A. Elam et al.   Cytoskeleton

Structure and function of mammalian cilia

(2008) Peter Satir et al.   HISTOCHEMISTRY AND CELL BIOLOGY