Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

(2020) Mingrong Lv et al.   JOURNAL OF MEDICAL GENETICS

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

(2020) Guillaume Martinez et al.   JOURNAL OF MEDICAL GENETICS

CAMSAP3 facilitates basal body polarity and the formation of the central pair of microtubules in motile cilia

(2020) Alan M. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

(2020) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

CFAP43-mediated intra-manchette transport is required for sperm head shaping and flagella formation

(2020) Yi Yu et al.   ZYGOTE

Structures of radial spokes and associated complexes important for ciliary motility

(2020) Miao Gui et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)

(2019) Wensheng Liu et al.   JOURNAL OF MEDICAL GENETICS

Recurring large deletion in DRC1 ( CCDC164 ) identified as causing primary ciliary dyskinesia in two Asian patients

(2019) Kozo Morimoto et al.   Molecular Genetics & Genomic Medicine

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

Scaffold subunits support associated subunit assembly in the Chlamydomonas ciliary nexin–dynein regulatory complex

(2019) Long Gui et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice

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

CFAP43 modulates ciliary beating in mouse and Xenopus

(2019) Ev Rachev et al.   DEVELOPMENTAL BIOLOGY

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

(2019) Simon A. Ramsbottom et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

(2018) Xiaojin He et al.   JOURNAL OF MEDICAL GENETICS

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

(2017) Yan-Wei Sha et al.   GENE

TCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa

(2017) Julio M. Castaneda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice

(2016) Seungshin Ha et al.   G3-Genes Genomes Genetics

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

(2016) Wesley R. Lewis et al.   PLoS Genetics

Chromatoid Body Protein TDRD6 Supports Long 3’ UTR Triggered Nonsense Mediated mRNA Decay

(2016) Grigorios Fanourgakis et al.   PLoS Genetics

Spermatogenesis Studies Reveal a Distinct Nonsense-Mediated mRNA Decay (NMD) Mechanism for mRNAs with Long 3′UTRs

(2016) Oliver Mühlemann   PLoS Genetics

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

(2015) Rivka A. Rachel et al.   HUMAN MOLECULAR GENETICS

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

(2015) Theodore G. Drivas et al.   Science Translational Medicine

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Reduced pachytene piRNAs and translation underlie spermiogenic arrest in Maelstrom mutant mice

(2014) J. Castaneda et al.   EMBO JOURNAL

SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis

(2014) Mingxi Liu et al.   MOLECULAR HUMAN REPRODUCTION

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 N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes

(2013) Raqual Bower et al.   MOLECULAR BIOLOGY OF THE CELL

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

(2013) Maureen Wirschell et al.   NATURE GENETICS

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Building Blocks of the Nexin-Dynein Regulatory Complex inChlamydomonasFlagella

(2011) Jianfeng Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tracing the origins of centrioles, cilia, and flagella

(2011) Zita Carvalho-Santos et al.   JOURNAL OF CELL BIOLOGY

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella

(2009) Thomas Heuser et al.   JOURNAL OF CELL BIOLOGY

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS