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

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

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

Ciliary Beating Compartmentalizes Cerebrospinal Fluid Flow in the Brain and Regulates Ventricular Development

(2019) Emilie W. Olstad et al.   CURRENT BIOLOGY

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

(2019) Qihong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mcidas mutant mice reveal a two-step process for the specification and differentiation of multiciliated cells in mammals

(2019) Hao Lu et al.   DEVELOPMENT

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

Establishing and regulating the composition of cilia for signal transduction

(2019) Maxence V. Nachury et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations

(2019) Zhuoyao Guo et al.   JOURNAL OF HUMAN GENETICS

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

(2019) Zuzanna Bukowy-Bieryllo et al.   JOURNAL OF MEDICAL GENETICS

Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus

(2019) Panayiotis K. Yiallouros et al.   Journal of Thoracic Disease

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

(2019) Anna Osinka et al.   Cells

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

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics

(2019) Sandra Cindrić et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

MNS1 variant associated with situs inversus and male infertility

(2019) Joseph S. Leslie et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The expanding phenotype of OFD1 ‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

(2019) William B. Hannah et al.   Molecular Genetics & Genomic Medicine

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

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

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 proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating

(2018) Paulina Urbanska et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2018) Zakia Abdelhamed et al.   DEVELOPMENT

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

(2018) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

CRISPR/Cas9-based genome engineering of zebrafish using a seamless integration strategy

(2018) Juan-Juan Luo et al.   FASEB JOURNAL

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

A microtubule-dynein tethering complex regulates the axonemal inner dynein f (I1)

(2018) Tomohiro Kubo et al.   MOLECULAR BIOLOGY OF THE CELL

The I1 dynein-associated tether and tether head complex is a conserved regulator of ciliary motility

(2018) Gang Fu et al.   MOLECULAR BIOLOGY OF THE CELL

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

(2018) Lv Liu et al.   Biomed Research International

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

(2018) Girish R Mali et al.   eLife

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa

(2018) Jesse D. Sengillo et al.   Ophthalmic Surgery Lasers & Imaging Retina

Xenopus: An Undervalued Model Organism to Study and Model Human Genetic Disease

(2018) Martin Blum et al.   CELLS TISSUES ORGANS

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

(2018) Marina Andjelkovic et al.   PLoS One

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

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

Emerging Picture of Deuterosome-Dependent Centriole Amplification in MCCs

(2018) Umama Shahid et al.   Cells

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

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

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

The roles of a flagellar HSP40 ensuring rhythmic beating

(2018) Xiaoyan Zhu et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

What we can learn from a tadpole about ciliopathies and airway diseases: Using systems biology inXenopusto study cilia and mucociliary epithelia

(2017) Peter Walentek et al.   GENESIS

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

(2017) Rebecca Ryan et al.   HUMAN MOLECULAR GENETICS

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

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

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

(2017) Christine Edelbusch et al.   HUMAN MUTATION

Genome editing using CRISPR/Cas9-based knock-in approaches in zebrafish

(2017) Shahad Albadri et al.   METHODS

The development and functions of multiciliated epithelia

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

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

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

Cilia in Left–Right Symmetry Breaking

(2017) Kyosuke Shinohara 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

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

(2017) Chiara Olcese et al.   Nature Communications

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

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

(2016) Myrofora Goutaki et al.   EUROPEAN RESPIRATORY JOURNAL

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

(2016) Laura Behan 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

Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

(2016) Israel Amirav et al.   HUMAN MUTATION

Zebrafish as a Model for Human Ciliopathies

(2016) Zhu Song et al.   Journal of Genetics and Genomics

Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome

(2016) Don Hayes et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Diagnostic Methods in Primary Ciliary Dyskinesia

(2016) Jane S. Lucas et al.   Paediatric Respiratory Reviews

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

Radial Spokes—A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella

(2016) Xiaoyan Zhu et al.   Cold Spring Harbor Perspectives in Biology

Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition

(2016) Francesc R. Garcia-Gonzalo et al.   Cold Spring Harbor Perspectives in Biology

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

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

(2016) Małgorzata Kurkowiak et al.   PLoS One

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

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

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia

(2015) You Li et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

(2015) Adrien Frommer et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Chlamydomonasaxonemal dynein assembly locusODA8encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes

(2015) Paurav B. Desai et al.   Cytoskeleton

Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells

(2015) M. C. Funk et al.   EMBO JOURNAL

In SituLocalization of N and C Termini of Subunits of the Flagellar Nexin-Dynein Regulatory Complex (N-DRC) Using SNAP Tag and Cryo-electron Tomography

(2015) Kangkang Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Oligomeric Outer Dynein Arm Assembly Factor CCDC103 Is Tightly Integrated within the Ciliary Axoneme and Exhibits Periodic Binding to Microtubules

(2015) Stephen M. King et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Detailed structural and biochemical characterization of the nexin-dynein regulatory complex

(2015) Toshiyuki Oda et al.   MOLECULAR BIOLOGY OF THE CELL

CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice

(2015) Casey W. McKenzie et al.   MOLECULAR BIOLOGY OF THE CELL

DRC3 connects the N-DRC to dynein g to regulate flagellar waveform

(2015) Junya Awata et al.   MOLECULAR BIOLOGY OF THE CELL

Late steps in cytoplasmic maturation of assembly-competent axonemal outer arm dynein in Chlamydomonas require interaction of ODA5 and ODA10 in a complex

(2015) Anudariya B. Dean et al.   MOLECULAR BIOLOGY OF THE CELL

Primary Ciliary Dyskinesia

(2015) Jason Lobo et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Specialized Cilia in Mammalian Sensory Systems

(2015) Nathalie Falk et al.   Cells

Characterization of Tetratricopeptide Repeat-Containing Proteins Critical for Cilia Formation and Function

(2015) Yanan Xu et al.   PLoS One

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

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE 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

Systematic discovery of novel ciliary genes through functional genomics in the zebrafish

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

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

(2014) Jillian P Casey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Johanna Raidt et al.   EUROPEAN RESPIRATORY JOURNAL

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

GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins

(2014) M. J. Stroud et al.   JOURNAL OF CELL SCIENCE

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

(2014) Henry Fehrenbach et al.   PEDIATRIC NEPHROLOGY

Sperm-Associated Antigen 6 (SPAG6) Deficiency and Defects in Ciliogenesis and Cilia Function: Polarity, Density, and Beat

(2014) Maria E. Teves et al.   PLoS One

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

(2014) T. Oda et al.   SCIENCE

Number of Nexin Links Detectable at Standard Electron Microscopy of Normal Human Nasal Cilia and at Nexin Link Deficiency

(2014) Catharina Cramnert et al.   ULTRASTRUCTURAL PATHOLOGY

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

(2014) Jianfeng Lin et al.   Nature Communications

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

(2014) Mieke Boon et al.   Nature Communications

C2 Domains as Protein-Protein Interaction Modules in the Ciliary Transition Zone

(2014) Kim Remans et al.   Cell Reports

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

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

(2013) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott 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

Sperm-Associated Antigen–17 Gene Is Essential for Motile Cilia Function and Neonatal Survival

(2013) Maria Eugenia Teves et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Loss-of-function mutations inCCDC114cause primary ciliary dyskinesia

(2013) DH Wu et al.   CLINICAL GENETICS

Fused (Stk36) is a ciliary protein required for central pair assembly and motile cilia orientation in the mammalian oviduct

(2013) Yoko Inès Nozawa et al.   DEVELOPMENTAL DYNAMICS

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals

(2013) Julie Jerber et al.   HUMAN MOLECULAR GENETICS

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

(2013) M. Leigh Anne Daniels et al.   HUMAN MUTATION

The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility

(2013) Ryosuke Yamamoto et al.   JOURNAL OF CELL BIOLOGY

Combined exome and whole-genome sequencing identifies mutations inARMC4as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

(2013) Alexandros Onoufriadis et al.   JOURNAL OF MEDICAL GENETICS

Novel structural labeling method using cryo-electron tomography and biotin–streptavidin system

(2013) Toshiyuki Oda et al.   JOURNAL OF STRUCTURAL BIOLOGY

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

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

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

(2013) Amjad Horani et al.   PLoS One

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

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

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

(2012) Muslim M. AlSaadi et al.   ANNALS OF HUMAN GENETICS

Coordinated Ciliary Beating Requires Odf2-Mediated Polarization of Basal Bodies via Basal Feet

(2012) Koshi Kunimoto et al.   CELL

Conserved structural motifs in the central pair complex of eukaryotic flagella

(2012) Blanca I. Carbajal-González et al.   Cytoskeleton

Mouse models of ciliopathies: the state of the art

(2012) D. P. Norris et al.   Disease Models & Mechanisms

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

(2012) Manisha Anand et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

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 FAP46 mutant provides new insights into the function and assembly of the C1d complex of the ciliary central apparatus

(2012) J. M. Brown et al.   JOURNAL OF CELL SCIENCE

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

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

Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation

(2012) J. L. Stubbs et al.   NATURE CELL BIOLOGY

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

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

RPGRmutations might cause reduced orientation of respiratory cilia

(2012) Zuzanna Bukowy-Bieryłło et al.   PEDIATRIC PULMONOLOGY

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

(2012) Ewa Ziętkiewicz et al.   PLoS One

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

1001 model organisms to study cilia and flagella

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

Primary cilia and organogenesis: is Hedgehog the only sculptor?

(2011) Evangelia Tasouri et al.   CELL AND TISSUE RESEARCH

Subunit interactions within the Chlamydomonas flagellar spokehead

(2011) Takahiro Kohno et al.   Cytoskeleton

The structural heterogeneity of radial spokes in cilia and flagella is conserved

(2011) Jianfeng Lin et al.   Cytoskeleton

RFX2 is broadly required for ciliogenesis during vertebrate development

(2011) Mei-I Chung et al.   DEVELOPMENTAL BIOLOGY

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

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

Building Blocks of the Nexin-Dynein Regulatory Complex inChlamydomonasFlagella

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

Cryoelectron tomography of radial spokes in cilia and flagella

(2011) Gaia Pigino et al.   JOURNAL OF CELL BIOLOGY

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1

(2011) C. A. M. Lopes et al.   JOURNAL OF CELL SCIENCE

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics

(2010) Lance Lee   GENE

Pcdp1 is a central apparatus protein that binds Ca2+-calmodulin and regulates ciliary motility

(2010) Christen G. DiPetrillo et al.   JOURNAL OF CELL BIOLOGY

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

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

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

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

Conditional Deletion ofDnaic1in a Murine Model of Primary Ciliary Dyskinesia Causes Chronic Rhinosinusitis

(2009) Lawrence E. Ostrowski et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Xenopus, an ideal model system to study vertebrate left-right asymmetry

(2009) Martin Blum et al.   DEVELOPMENTAL DYNAMICS

Proteomic characterization of sperm radial spokes identifies a novel spoke protein with an ubiquitin domain

(2009) Yuhkoh Satouh et al.   FEBS LETTERS

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes

(2009) Xinhua Shu et al.   HUMAN MOLECULAR GENETICS

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

(2009) Amiya K. Ghosh et al.   HUMAN MOLECULAR GENETICS

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

Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis

(2009) Christopher W. Wilson et al.   NATURE

Motile Cilia of Human Airway Epithelia Are Chemosensory

(2009) A. S. Shah et al.   SCIENCE

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

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

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

(2008) Angeles Fernandez-Gonzalez et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS

Mutations inHydinimpair ciliary motility in mice

(2008) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

Dimeric heat shock protein 40 binds radial spokes for generating coupled power strokes and recovery strokes of 9 + 2 flagella

(2008) Chun Yang et al.   JOURNAL OF CELL BIOLOGY

Ectopic pregnancy in primary ciliary dyskinesia

(2008) M. Blyth et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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

(2008) Heymut Omran et al.   NATURE

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

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