Recent advances in primary ciliary dyskinesia genetics

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

Diagnosis and management of primary ciliary dyskinesia

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

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

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

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

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

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

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

Culture of Primary Ciliary Dyskinesia Epithelial Cells at Air-Liquid Interface Can Alter Ciliary Phenotype but Remains a Robust and Informative Diagnostic Aid

(2014) Robert A. Hirst et al.   PLoS One

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

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

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Mouse models of polycystic kidney disease induced by defects of ciliary proteins

(2013) Je Yeong Ko et al.   BMB Reports

Up to date on primary ciliary dyskinesia in children

(2013) Massimo Pifferi et al.   EARLY HUMAN DEVELOPMENT

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

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

Complexity, Temporal Stability, and Clinical Correlates of Airway Bacterial Community Composition in Primary Ciliary Dyskinesia

(2013) G. B. Rogers et al.   JOURNAL OF CLINICAL MICROBIOLOGY

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

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

The classical progesterone receptor mediates the rapid reduction of fallopian tube ciliary beat frequency by progesterone

(2013) Anna Bylander et al.   Reproductive Biology and Endocrinology

A New Tool Improves Diagnostic Test Performance for Transmission EM Evaluation of Axonemal Dynein Arms

(2013) W. Keith Funkhouser et al.   ULTRASTRUCTURAL PATHOLOGY

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

The primary cilium as a dual sensor of mechanochemical signals in chondrocytes

(2012) Hayat Muhammad et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure

(2012) Eileen T. O'Toole et al.   Cytoskeleton

Kinocilia Mediate Mechanosensitivity in Developing Zebrafish Hair Cells

(2012) Katie S. Kindt et al.   DEVELOPMENTAL CELL

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

(2012) Silvio Alessandro Di Gioia et al.   HUMAN MOLECULAR GENETICS

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

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

Insights into dynein motor domain function from a 3.3-Å crystal structure

(2012) Helgo Schmidt et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Primary cilia attenuate hedgehog signalling in neoplastic chondrocytes

(2012) L Ho et al.   ONCOGENE

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

Cilia at the Node of Mouse Embryos Sense Fluid Flow for Left-Right Determination via Pkd2

(2012) S. Yoshiba et al.   SCIENCE

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

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

Regulation of ciliary motility: Conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme

(2011) Maureen Wirschell et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

The Role of Cilia in the Regulation of Bile Flow

(2011) Nicholas F. LaRusso et al.   DIGESTIVE DISEASES

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

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

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

Three-dimensional structure of the radial spokes reveals heterogeneity and interactions with dyneins in Chlamydomonas flagella

(2011) Cynthia F. Barber et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities

(2010) J. Ulrich Sommer et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

(2010) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

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

Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus

(2010) Fadel Tissir et al.   NATURE NEUROSCIENCE

Nucleotide-induced global conformational changes of flagellar dynein arms revealed by in situ analysis

(2010) Tandis Movassagh et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia

(2009) Wendy A. Stannard et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL

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

Ciliary defects and genetics of primary ciliary dyskinesia

(2009) Estelle Escudier et al.   Paediatric Respiratory Reviews

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

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

Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1

(2008) Anna-Rachel Gallagher et al.   AMERICAN JOURNAL OF PATHOLOGY

A Protein Methylation Pathway in Chlamydomonas Flagella Is Active during Flagellar Resorption

(2008) Mark J. Schneider et al.   MOLECULAR BIOLOGY OF THE CELL

Three Members of the LC8/DYNLL Family Are Required for Outer Arm Dynein Motor Function

(2008) Christopher A. Tanner et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Heymut Omran et al.   NATURE

DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia

(2008) Mike Failly et al.   RESPIRATION