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

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

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

(2012) Nader Nakhleh et al.   CIRCULATION

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

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

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

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

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

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

Building Blocks of the Nexin-Dynein Regulatory Complex inChlamydomonasFlagella

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

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

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

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

SMART 7: recent updates to the protein domain annotation resource

(2011) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

How cilia beat

(2010) T. J. Mitchison et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

CDD: a Conserved Domain Database for the functional annotation of proteins

(2010) A. Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

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

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

(2009) Nathalie Dagoneau 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

Phostensin caps to the pointed end of actin filaments and modulates actin dynamics

(2009) Ning-Sheng Lai et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

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

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

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

(2008) Heymut Omran et al.   NATURE

Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis

(2008) A. Shoemark et al.   RESPIRATORY MEDICINE