Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

(2020) Lucie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

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

Motile ciliopathies

(2020) Julia Wallmeier et al.   Nature Reviews Disease Primers

CFAP300: Mutations in Slavic Primary Ciliary Dyskinesia Patients and a Role in Ciliary Dynein Arms Trafficking

(2019) Ewa Zietkiewicz et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Binding properties of the quaternary assembly protein SPAG1

(2019) Marie-Eve Chagot et al.   BIOCHEMICAL JOURNAL

Intraflagellar transport protein 74 is essential for spermatogenesis and male fertility in mice†

(2019) Lin Shi et al.   BIOLOGY OF REPRODUCTION

A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia

(2019) Agnes Cheong et al.   HUMAN MOLECULAR GENETICS

Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2019) Pol Andrés-Benito et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

WDR92 Is Required for Axonemal Dynein Heavy Chain Stability in Cytoplasm

(2019) Ramila S. Patel-King et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

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

Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP

(2018) Petra zur Lage et al.   JOURNAL OF CELL BIOLOGY

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Establishment of the early cilia preassembly protein complex during motile ciliogenesis

(2018) Amjad Horani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A search for molecular mechanisms underlying male idiopathic infertility

(2018) An Bracke et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

(2018) Kyeong Jee Cho et al.   PLoS Genetics

Systematic studies of all PIH proteins in zebrafish reveal their distinct roles in axonemal dynein assembly

(2018) Hiroshi Yamaguchi et al.   eLife

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

(2018) Girish R Mali et al.   eLife

Pkd2l1 is required for mechanoception in cerebrospinal fluid-contacting neurons and maintenance of spine curvature

(2018) Jenna R. Sternberg et al.   Nature Communications

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

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

A liquid-like organelle at the root of motile ciliopathy

(2018) Ryan L Huizar et al.   eLife

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

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

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

(2017) Verity L Hartill et al.   HUMAN MOLECULAR GENETICS

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

Correction: Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms

(2017)   PLoS Genetics

Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms

(2017) Ryosuke Yamamoto et al.   PLoS Genetics

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

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

Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6

(2016) Yasuko Inaba et al.   GENES TO CELLS

A prefoldin-associated WD-repeat protein (WDR92) is required for the correct architectural assembly of motile cilia

(2016) Ramila S. Patel-King et al.   MOLECULAR BIOLOGY OF THE CELL

Structure and function of outer dynein arm intermediate and light chain complex

(2016) Toshiyuki Oda et al.   MOLECULAR BIOLOGY OF THE CELL

c21orf59/kurly Controls Both Cilia Motility and Polarization

(2016) Kimberly M. Jaffe et al.   Cell Reports

Mutations in the Motile Cilia Gene DNAAF1 are Associated with Neural Tube Defects in Humans

(2016) C. Miao et al.   G3-Genes Genomes Genetics

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

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

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

(2015) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis

(2015) Tomer Avidor-Reiss et al.   CURRENT BIOLOGY

Dynein-deficient flagella respond to increased viscosity with contrasting changes in power and recovery strokes

(2015) Kate S. Wilson et al.   Cytoskeleton

Intraflagellar transport is essential for mammalian spermiogenesis but is absent in mature sperm

(2015) Jovenal T. San Agustin et al.   MOLECULAR BIOLOGY OF THE CELL

A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures

(2015) Huawen Lin et al.   PLoS Genetics

A Structural Basis for How Motile Cilia Beat

(2014) Peter Satir et al.   BIOSCIENCE

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

(2014) Johanna Raidt et al.   EUROPEAN RESPIRATORY JOURNAL

Diagnosis of Male Infertility: Diagnostic Work-up of the Infertile Man

(2014) Sabine Kliesch   EUROPEAN UROLOGY SUPPLEMENTS

Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm

(2014) Fenglan Dong et al.   JOURNAL OF CELL BIOLOGY

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

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

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

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

(2013) Christina Austin-Tse et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN 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

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

(2013) Maimoona A. Zariwala 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

The establishment of rotational polarity in the airway and ependymal cilia: analysis with a novel cilium motility mutant mouse

(2013) Moe Matsuo et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

(2013) Amjad Horani et al.   PLoS One

Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility

(2013) L. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

(2012) Amjad Horani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

Male infertility: Pathogenesis and clinical diagnosis

(2011) Csilla Krausz   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Hearing in Drosophila Requires TilB, a Conserved Protein Associated With Ciliary Motility

(2010) R. G. Kavlie et al.   GENETICS

Discrete PIH proteins function in the cytoplasmic preassembly of different subsets of axonemal dyneins

(2010) Ryosuke Yamamoto et al.   JOURNAL OF CELL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

(2009) Philippe Duquesnoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

(2009) Niki Tomas Loges 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 Annulus of the Mouse Sperm Tail Is Required to Establish a Membrane Diffusion Barrier That Is Engaged During the Late Steps of Spermiogenesis1

(2009) Susanna Kwitny et al.   BIOLOGY OF REPRODUCTION

Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning

(2009) F. C. Serluca et al.   DEVELOPMENT

LRRC50, a Conserved Ciliary Protein Implicated in Polycystic Kidney Disease

(2008) E. van Rooijen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2008) Heymut Omran et al.   NATURE