Ciliary Dyneins and Dynein Related Ciliopathies

Novel roles of PRK1 and PRK2 in cilia and cancer biology

(2020) Hitesh Patel et al.   Scientific Reports

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

(2020) Anjali Vig et al.   GENETICS IN MEDICINE

Interplay of RFX transcription factors 1, 2 and 3 in motile ciliogenesis

(2020) Sylvain Lemeille et al.   NUCLEIC ACIDS RESEARCH

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

(2020) Ximena M. Bustamante-Marin et al.   PLoS Genetics

Motile cilia genetics and cell biology: big results from little mice

(2020) Lance Lee et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Structures of radial spokes and associated complexes important for ciliary motility

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

A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia

(2020) Janice L. Coles et al.   Journal of Clinical Medicine

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

(2019) Gabrielle Wheway et al.   Frontiers in Genetics

Cellular signalling by primary cilia in development, organ function and disease

(2019) Zeinab Anvarian et al.   Nature Reviews Nephrology

GemC1 governs multiciliogenesis through direct interaction and transcriptional regulation of p73

(2019) Maria-Eleni Lalioti et al.   JOURNAL OF CELL SCIENCE

Three-dimensional architecture of epithelial primary cilia

(2019) Shufeng Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The dynamic and structural properties of axonemal tubulins support the high length stability of cilia

(2019) Ron Orbach et al.   Nature Communications

Setting the dynein motor in motion: new insights from electron tomography

(2019) Danielle A. Grotjahn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2019) Anna Osinka et al.   Cells

Structure of the dynein-2 complex and its assembly with intraflagellar transport trains

(2019) Katerina Toropova et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

(2019) Julia Wallmeier 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

Role of the Novel Hsp90 Co-Chaperones in Dynein Arms’ Preassembly

(2019) Hanna Fabczak et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping

(2019) Xiaoyi Chen et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Massive centriole production can occur in the absence of deuterosomes in multiciliated cells

(2019) Olivier Mercey et al.   NATURE CELL BIOLOGY

The unity and diversity of the ciliary central apparatus

(2019) Lei Zhao et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia

(2019) Martyna Poprzeczko et al.   Cells

Cilia in cystic kidney and other diseases

(2019) Gregory J. Pazour et al.   CELLULAR SIGNALLING

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

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

(2018) M. Niceta et al.   CLINICAL GENETICS

Sending mixed signals: Cilia-dependent signaling during development and disease

(2018) Kelsey H. Elliott et al.   DEVELOPMENTAL BIOLOGY

The cytoplasmic dynein transport machinery and its many cargoes

(2018) Samara L. Reck-Peterson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

To beat, or not to beat, that is question! The spectrum of ciliopathies

(2018) Céline Kempeneers et al.   PEDIATRIC PULMONOLOGY

Asymmetric distribution and spatial switching of dynein activity generates ciliary motility

(2018) Jianfeng Lin et al.   SCIENCE

Metachronal motion of artificial magnetic cilia

(2018) Srinivas Hanasoge et al.   Soft Matter

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review

(2018) Rebecca Amy Dalrymple et al.   Archives of Disease in Childhood-Education and Practice Edition

Emerging mechanisms of dynein transport in the cytoplasm versus the cilium

(2018) Anthony J. Roberts   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2018) Sunayna Best et al.   THORAX

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

Role for intraflagellar transport in building a functional transition zone

(2018) Victor L Jensen et al.   EMBO REPORTS

Trafficking of ciliary membrane proteins by the intraflagellar transport/BBSome machinery

(2018) Jenna L. Wingfield et al.   Essays in Biochemistry

Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy

(2018) Andrew J. Olson et al.   JOURNAL OF PEDIATRICS

The cryo-EM structure of intraflagellar transport trains reveals how dynein is inactivated to ensure unidirectional anterograde movement in cilia

(2018) Mareike A. Jordan et al.   NATURE CELL BIOLOGY

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

(2018) Laura Vuolo et al.   eLife

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

(2017) Dinu Antony et al.   European Journal of Medical Genetics

Intraflagellar transport: mechanisms of motor action, cooperation, and cargo delivery

(2017) Bram Prevo et al.   FEBS Journal

Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse

(2017) Chuanqing Wu et al.   HUMAN MOLECULAR GENETICS

Primary Cilium-Dependent Signaling Mechanisms

(2017) Rajasekharreddy Pala et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ick Ciliary Kinase Is Essential for Planar Cell Polarity Formation in Inner Ear Hair Cells and Hearing Function

(2017) Shio Okamoto et al.   JOURNAL OF NEUROSCIENCE

The development and functions of multiciliated epithelia

(2017) Nathalie Spassky et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Cilia - The sensory antennae in the eye

(2017) Helen May-Simera et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The Cilium: Cellular Antenna and Central Processing Unit

(2017) Jarema J. Malicki et al.   TRENDS IN CELL BIOLOGY

Intraflagellar Transport and Ciliary Dynamics

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

Ciliary Motility: Regulation of Axonemal Dynein Motors

(2017) Rasagnya Viswanadha et al.   Cold Spring Harbor Perspectives in Biology

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

Primary Ciliary Dyskinesia

(2016) Michael R. Knowles et al.   CLINICS IN CHEST MEDICINE

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

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

Microtubule doublets are double-track railways for intraflagellar transport trains

(2016) L. Stepanek et al.   SCIENCE

Axoneme Structure from Motile Cilia

(2016) Takashi Ishikawa   Cold Spring Harbor Perspectives in Biology

The Central Apparatus of Cilia and Eukaryotic Flagella

(2016) Thomas D. Loreng et al.   Cold Spring Harbor Perspectives in Biology

Axonemal Dynein Arms

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

Multiciliated Cells in Animals

(2016) Alice Meunier et al.   Cold Spring Harbor Perspectives in Biology

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

(2015) Ankur A. Gholkar et al.   CELL CYCLE

BMP signalling controls the construction of vertebrate mucociliary epithelia

(2015) M. Cibois et al.   DEVELOPMENT

Dynein and intraflagellar transport

(2015) Yuqing Hou et al.   EXPERIMENTAL CELL RESEARCH

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

(2015) Miriam Schmidts et al.   Nature Communications

9 + 0 and 9 + 2 cilia are randomly dispersed in the mouse node

(2015) Toru Odate et al.   Microscopy

Specialized Cilia in Mammalian Sensory Systems

(2015) Nathalie Falk et al.   Cells

Genetic basis of human left–right asymmetry disorders

(2015) Hao Deng et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Cilia and Diseases

(2014) Jason M. Brown et al.   BIOSCIENCE

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

Switching on cilia: transcriptional networks regulating ciliogenesis

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

Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis

(2014) Samuel A. Collins et al.   EUROPEAN RESPIRATORY JOURNAL

Multicilin drives centriole biogenesis via E2f proteins

(2014) L. Ma et al.   GENES & DEVELOPMENT

Mechanosignaling between central apparatus and radial spokes controls axonemal dynein activity

(2014) Toshiyuki Oda et al.   JOURNAL OF CELL BIOLOGY

Subunit composition of the human cytoplasmic dynein-2 complex

(2014) D. Asante et al.   JOURNAL OF CELL SCIENCE

The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions

(2014) Thierry Blisnick et al.   MOLECULAR BIOLOGY OF THE CELL

Centriole amplification by mother and daughter centrioles differs in multiciliated cells

(2014) Adel Al Jord et al.   NATURE

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

Primary Cilia in the Developing and Mature Brain

(2014) Alicia Guemez-Gamboa et al.   NEURON

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

(2014) Mieke Boon et al.   Orphanet Journal of Rare Diseases

How do cilia organize signalling cascades?

(2014) M. V. Nachury   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Cilia and ciliopathies: Classic examples linking phenotype and genotype—An overview

(2014) Nicola Powles-Glover   REPRODUCTIVE TOXICOLOGY

Functional Diversity of Axonemal Dyneins as Assessed by in Vitro and in Vivo Motility Assays ofChlamydomonasMutants

(2014) Ritsu Kamiya et al.   ZOOLOGICAL SCIENCE

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

(2013) Miriam Schmidts et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Drugging Hedgehog: signaling the pathway to translation

(2013) Tom J Carney et al.   BMC BIOLOGY

Deuterosome-Mediated Centriole Biogenesis

(2013) Deborah A. Klos Dehring et al.   DEVELOPMENTAL CELL

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

(2013) Geneviève Baujat et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

(2013) Ramila S. Patel-King et al.   MOLECULAR BIOLOGY OF THE CELL

The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis

(2013) Huijie Zhao et al.   NATURE CELL BIOLOGY

Functions and mechanics of dynein motor proteins

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

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

Cilia, calcium and the basis of left-right asymmetry

(2012) Dominic P Norris   BMC BIOLOGY

The ciliary pocket

(2012) Alexandre Benmerah   CURRENT OPINION IN CELL BIOLOGY

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

(2012) Dinu Antony et al.   HUMAN MUTATION

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

(2011) Pleasantine Mill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

1001 model organisms to study cilia and flagella

(2011) Laetitia Vincensini et al.   BIOLOGY OF THE CELL

Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required

(2011) C. O'Callaghan et al.   EUROPEAN RESPIRATORY JOURNAL

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

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

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

(2010) Tracey L. Purvis et al.   GENE

Post-translational modifications of microtubules

(2010) D. Wloga et al.   JOURNAL OF CELL SCIENCE

Sensory reception is an attribute of both primary cilia and motile cilia

(2010) R. A. Bloodgood   JOURNAL OF CELL SCIENCE

Canonical Notch signaling in the developing lung is required for determination of arterial smooth muscle cells and selection of Clara versus ciliated cell fate

(2010) M. Morimoto et al.   JOURNAL OF CELL SCIENCE

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

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

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

(2009) Nathalie Dagoneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Downregulation of cilia-localized Il-6Rα by 17β-estradiol in mouse and human fallopian tubes

(2009) Ruijin Shao et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-κB activation pathway

(2009) Dong Gao et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

TheChlamydomonas reinhardtiiBBSome is an IFT cargo required for export of specific signaling proteins from flagella

(2009) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

Motile Cilia of Human Airway Epithelia Are Chemosensory

(2009) A. S. Shah et al.   SCIENCE

TRPV4 channel participates in receptor-operated calcium entry and ciliary beat frequency regulation in mouse airway epithelial cells

(2008) I. M. Lorenzo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA