Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella

The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis

(2020) Zheng-Zheng Li et al.   BIOSCIENCE REPORTS

Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

(2020) Xiaojin He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype

(2020) Yanwei Sha et al.   JOURNAL OF HUMAN GENETICS

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

(2019) Marjorie Whitfield et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

(2019) Weiyu Li et al.   JOURNAL OF MEDICAL GENETICS

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

(2019) Julie Beurois et al.   HUMAN REPRODUCTION

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

Assembly, Functions and Evolution of Archaella, Flagella and Cilia

(2018) Shahid Khan et al.   CURRENT BIOLOGY

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

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

(2018) Weiyu Li et al.   JOURNAL OF HUMAN GENETICS

Primary Ciliary Dyskinesia

(2017) Rebecca Butterfield   PEDIATRICS IN REVIEW

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF)

(2017) Yan-Wei Sha et al.   Reproductive Sciences

Intraflagellar Transport and Ciliary Dynamics

(2017) Hiroaki Ishikawa et al.   Cold Spring Harbor Perspectives in Biology

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

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

(2015) Adam J. Shapiro et al.   PEDIATRIC PULMONOLOGY

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