Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

(2019) Ximena M. Bustamante-Marin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Motile cilia of the male reproductive system require miR-34/miR-449 for development and function to generate luminal turbulence

(2019) Shuiqiao Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

(2019) Gabrielle Wheway et al.   Frontiers in Genetics

Survey of the Ciliary Motility Machinery of Drosophila Sperm and Ciliated Mechanosensory Neurons Reveals Unexpected Cell-Type Specific Variations: A Model for Motile Ciliopathies

(2019) Petra zur Lage et al.   Frontiers in Genetics

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

(2019) Ying Shen et al.   Nature Communications

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella

(2019) Yang Li et al.   CLINICAL GENETICS

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

(2019) Bruna Rubbo et al.   CHEST

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

Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice

(2019) Berta Terré et al.   DEVELOPMENT

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

(2019) Chunyu Liu et al.   JOURNAL OF MEDICAL 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

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

(2019) R. Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND 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

Ciliary Proteins: Filling the Gaps. Recent Advances in Deciphering the Protein Composition of Motile Ciliary Complexes

(2019) Anna Osinka et al.   Cells

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

(2018) Inga M. Höben 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

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

DNAH6 is a novel candidate gene associated with sperm head anomaly

(2018) L. Li et al.   ANDROLOGIA

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

(2018) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

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

Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener’s syndrome

(2018) Sinan Ozkavukcu et al.   Reproductive Biology and Endocrinology

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

(2018) Charles Coutton et al.   Nature Communications

A lumenal interrupted helix in human sperm tail microtubules

(2018) Davide Zabeo et al.   Scientific Reports

Cilia-related protein SPEF2 regulates osteoblast differentiation

(2018) Mari S. Lehti et al.   Scientific Reports

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms

(2018) Kyeong Jee Cho et al.   PLoS Genetics

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

(2018) Lin Yang et al.   Frontiers in Genetics

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

Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection

(2018) Yan-Wei Sha et al.   ANDROLOGIA

Radial spoke head 6 homolog A is required for sperm flagellum formation and male fertility in mice

(2018) Ferheen Abbasi et al.   JOURNAL OF CELL SCIENCE

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

(2018) Sunayna Best et al.   THORAX

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

(2018) Asaf Ta-Shma et al.   PLoS Genetics

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

(2018) Niki T. Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

(2018) Serge Bonnefoy 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

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

(2017) Gert Jan Vanaken et al.   EUROPEAN RESPIRATORY JOURNAL

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

(2017) Yan-Wei Sha et al.   GENE

Mutation of serine/threonine protein kinase 36 (STK36 ) causes primary ciliary dyskinesia with a central pair defect

(2017) Christine Edelbusch et al.   HUMAN MUTATION

Coarse-Graining the Fluid Flow around a Human Sperm

(2017) Kenta Ishimoto et al.   PHYSICAL REVIEW LETTERS

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis

(2017) Amelia Shoemark   ULTRASTRUCTURAL PATHOLOGY

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure

(2017) Adam J. Shapiro et al.   ULTRASTRUCTURAL PATHOLOGY

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

(2017) Chiara Olcese et al.   Nature Communications

Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility

(2017) Marc Núnez-Ollé et al.   Oncotarget

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

(2017) Ting Guo et al.   Scientific Reports

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

(2016) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) Elma El Khouri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

E2f4 and E2f5 are essential for the development of the male reproductive system

(2016) Paul S. Danielian et al.   CELL CYCLE

HomozygousDNAH1frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese

(2016) X. Wang et al.   CLINICAL GENETICS

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Mutations inGAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

(2016) Ludovic Jeanson et al.   HUMAN MUTATION

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

A new mutation identified in SPATA16 in two globozoospermic patients

(2016) Elias ElInati et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Deficiency in Outer Dense Fiber 1 Is a Marker and Potential Driver of Idiopathic Male Infertility

(2016) Louise Hetherington et al.   MOLECULAR & CELLULAR PROTEOMICS

Axonemal Dynein Arms

(2016) Stephen M. King   Cold Spring Harbor Perspectives in Biology

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

(2015) Ludovic Jeanson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

Absence of Radial Spokes in Mouse Node Cilia Is Required for Rotational Movement but Confers Ultrastructural Instability as a Trade-Off

(2015) Kyosuke Shinohara et al.   DEVELOPMENTAL CELL

Ciliary function and motor protein composition of human fallopian tubes

(2015) Johanna Raidt et al.   HUMAN REPRODUCTION

Mutation analysis in patients with total sperm immotility

(2015) Rute Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

Diagnosis and management of primary ciliary dyskinesia

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

DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis

(2014) Weina Li et al.   BMC DEVELOPMENTAL BIOLOGY

Switching on cilia: transcriptional networks regulating ciliogenesis

(2014) S. P. Choksi et al.   DEVELOPMENT

Diagnostic accuracy of nitric oxide measurements to detect primary ciliary dyskinesia

(2014) Mieke Boon et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

(2014) Alexandros Onoufriadis et al.   HUMAN MOLECULAR GENETICS

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Julia Wallmeier et al.   NATURE GENETICS

A molecular ruler determines the repeat length in eukaryotic cilia and flagella

(2014) T. Oda et al.   SCIENCE

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014) Mieke Boon et al.   Nature Communications

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

(2014) Christine P. Diggle et al.   PLoS Genetics

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

(2013) Daniel J. Moore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A solid-state control system for dynein-based ciliary/flagellar motility

(2013) Stephen M. King   JOURNAL OF CELL BIOLOGY

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

Functions and mechanics of dynein motor proteins

(2013) Anthony J. Roberts et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Transcriptome Profiling of the Murine Testis during the First Wave of Spermatogenesis

(2013) Asta Laiho et al.   PLoS One

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

(2012) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich 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

New Adenylate Kinase 7 (AK7) Mutation in Primary Ciliary Dyskinesia

(2012) Manuel Mata et al.   American Journal of Rhinology & Allergy

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

(2012) Dinu Antony et al.   HUMAN MUTATION

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

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

The CSC connects three major axonemal complexes involved in dynein regulation

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

MNS1 Is Essential for Spermiogenesis and Motile Ciliary Functions in Mice

(2012) Jian Zhou et al.   PLoS Genetics

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

(2011) Masha Mazor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1

(2011) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

(2011) Jane S. Lucas et al.   HUMAN MUTATION

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

(2011) A Shoemark et al.   JOURNAL OF CLINICAL PATHOLOGY

The Small Heat Shock Protein ODF1/HSPB10 Is Essential for Tight Linkage of Sperm Head to Tail and Male Fertility in Mice

(2011) K. Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

The CSC is required for complete radial spoke assembly and wild-type ciliary motility

(2011) Erin E. Dymek et al.   MOLECULAR BIOLOGY OF THE CELL

Role of Adenylate Kinase Type 7 Expression on Cilia Motility: Possible Link in Primary Ciliary Dyskinesia

(2010) Javier Milara et al.   American Journal of Rhinology & Allergy

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

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression of SPEF2 During Mouse Spermatogenesis and Identification of IFT20 as an Interacting Protein1

(2009) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

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

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Can pentoxifylline improve the sperm motion and ICSI success in the primary ciliary dyskinesia?

(2008) Gazi Yildirim et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia

(2008) D. Zuccarello et al.   HUMAN REPRODUCTION

A heat-shock protein 40, DNAJB13, is an axoneme-associated component in mouse spermatozoa

(2008) Jikui Guan et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE

Modelling mucociliary clearance

(2008) D.J. Smith et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Pregnancy after laser-assisted selection of viable spermatozoa before intracytoplasmatic sperm injection in a couple with male primary cilia dyskinesia

(2007) Peter Arne Gerber et al.   FERTILITY AND STERILITY

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION