CCDC9 is identified as a novel candidate gene of severe asthenozoospermia

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

TSGA10 is a novel candidate gene associated with acephalic spermatozoa

(2018) Y.-W. Sha et al.   CLINICAL GENETICS

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

(2018) Zakia Abdelhamed et al.   DEVELOPMENT

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

DRC2/CCDC65 is a central hub for assembly of the nexin–dynein regulatory complex and other regulators of ciliary and flagellar motility

(2018) Raqual Bower et al.   MOLECULAR BIOLOGY OF THE CELL

Seminal SIRT1 expression in infertile oligoasthenoteratozoospermic men with varicocoele

(2018) T. Mostafa et al.   Andrology

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

(2018) Weizhi Zhang et al.   JOURNAL OF HUMAN GENETICS

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease

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

Ccdc181 is a microtubule-binding protein that interacts with Hook1 in haploid male germ cells and localizes to the sperm tail and motile cilia

(2017) Thomas Schwarz et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

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

(2017) Yan-Wei Sha et al.   GENE

High prevalence ofCCDC103p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

(2017) Amelia Shoemark et al.   THORAX

A Novel Testis-Specific Gene, Ccdc136, Is Required for Acrosome Formation and Fertilization in Mice

(2016) Qiang Geng et al.   Reproductive Sciences

Seminal cyclooxygenase relationship with oxidative stress in infertile oligoasthenoteratozoospermic men with varicocele

(2015) T. Mostafa et al.   ANDROLOGIA

T26248G-transversion mutation in exon7 of the putative methyltransferase Nsun7 gene causes a change in protein folding associated with reduced sperm motility in asthenospermic men

(2015) Nahid Khosronezhad et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

Ropporin Gene Expression in Infertile Asthenozoospermic Men With Varicocele Before and After Repair

(2015) Medhat K. Amer et al.   UROLOGY

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

(2014) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

(2014) Muslim M. Alsaadi et al.   HUMAN MUTATION

Molecular Cloning and Subcellular Localization of Tektin2-Binding Protein 1 (Ccdc 172) in Rat Spermatozoa

(2014) Airi Yamaguchi et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

(2014) N. Takasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

(2013) Thassadite Dirami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

(2013) Amjad Horani et al.   PLoS One

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN 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

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

(2012) Dinu Antony et al.   HUMAN MUTATION

A conserved KASH domain protein associates with telomeres, SUN1, and dynactin during mammalian meiosis

(2012) Akihiro Morimoto et al.   JOURNAL OF CELL BIOLOGY

Delineation ofCCDC39/CCDC40mutation spectrum and associated phenotypes in primary ciliary dyskinesia

(2012) Sylvain Blanchon et al.   JOURNAL OF MEDICAL GENETICS

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Etiology of severe asthenozoospermia and fertility prognosis. A screening of 5216 semen analyses

(2010) M. Marchini et al.   ANDROLOGIA

A case of severe asthenozoospermia: a novel sperm tail defect of possible genetic origin identified by electron microscopy and immunocytochemistry

(2010) Giulia Collodel et al.   FERTILITY AND STERILITY

Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment

(2010) Elena Moretti et al.   FERTILITY AND STERILITY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS