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

Switching on cilia: transcriptional networks regulating ciliogenesis

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

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

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

Coordinated genomic control of ciliogenesis and cell movement by RFX2

(2014) Mei-I Chung et al.   eLife

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

Myb promotes centriole amplification and later steps of the multiciliogenesis program

(2013) F. E. Tan et al.   DEVELOPMENT

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

Picking up speed: advances in the genetics of primary ciliary dyskinesia

(2013) Amjad Horani et al.   PEDIATRIC RESEARCH

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

DNA-binding specificity changes in the evolution of forkhead transcription factors

(2013) S. Nakagawa 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

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

Differential regulation of node formation, nodal ciliogenesis and cilia positioning by Noto and Foxj1

(2012) L. Alten et al.   DEVELOPMENT

Forkhead Transcription Factor Fd3F Cooperates with Rfx to Regulate a Gene Expression Program for Mechanosensory Cilia Specialization

(2012) Fay G. Newton et al.   DEVELOPMENTAL CELL

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

A Modular Toolset for Recombination Transgenesis and Neurogenetic Analysis of Drosophila

(2012) Ji-Wu Wang 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

A unified taxonomy for ciliary dyneins

(2011) Erik F. Y. Hom et al.   Cytoskeleton

RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow

(2011) Brent W. Bisgrove et al.   DEVELOPMENTAL BIOLOGY

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

(2011) Ian M. Carr et al.   GENOMICS

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

(2011) J. S. C. Chu et al.   NUCLEIC ACIDS RESEARCH

The Gene Regulatory Cascade Linking Proneural Specification with Differentiation in Drosophila Sensory Neurons

(2011) Sebastián Cachero et al.   PLOS BIOLOGY

Transcriptional control of genes involved in ciliogenesis: a first step in making cilia

(2010) Joëlle Thomas et al.   BIOLOGY OF THE CELL

An Unusual Hydrophobic Core Confers Extreme Flexibility to HEAT Repeat Proteins

(2010) Christian Kappel et al.   BIOPHYSICAL JOURNAL

The Transcription Factor Rfx3 Regulates  -Cell Differentiation, Function, and Glucokinase Expression

(2010) A. Ait-Lounis et al.   DIABETES

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

(2010) R. G. Kavlie et al.   GENETICS

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms

(2010) I. M. Carr et al.   JOURNAL OF MEDICAL GENETICS

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

TheChlorella variabilisNC64A Genome Reveals Adaptation to Photosymbiosis, Coevolution with Viruses, and Cryptic Sex

(2010) Guillaume Blanc et al.   PLANT CELL

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

Inferring relative proportions of DNA variants from sequencing electropherograms

(2009) I. M. Carr et al.   BIOINFORMATICS

Primary ciliary dyskinesia: improving the diagnostic approach

(2009) Margaret W Leigh et al.   CURRENT OPINION IN PEDIATRICS

IBDfinderandSNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

(2009) Ian M. Carr et al.   HUMAN MUTATION

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

(2009) L. El Zein et al.   JOURNAL OF CELL SCIENCE

Diversity and Complexity in DNA Recognition by Transcription Factors

(2009) G. Badis 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

Transducer-Based Force Generation Explains Active Process in Drosophila Hearing

(2008) Björn Nadrowski et al.   CURRENT BIOLOGY

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

(2008) Heymut Omran et al.   NATURE

Foxj1 transcription factors are master regulators of the motile ciliogenic program

(2008) Xianwen Yu et al.   NATURE GENETICS

The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos

(2008) Jennifer L Stubbs et al.   NATURE GENETICS