The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Single-particle imaging reveals intraflagellar transport–independent transport and accumulation of EB1 in Chlamydomonas flagella

(2016) J. Aaron Harris et al.   MOLECULAR BIOLOGY OF THE CELL

The BioPlex Network: A Systematic Exploration of the Human Interactome

(2015) Edward L. Huttlin et al.   CELL

Control of vertebrate core planar cell polarity protein localization and dynamics by Prickle 2

(2015) Mitchell T. Butler et al.   DEVELOPMENT

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

(2015) Rama Rao Damerla et al.   HUMAN MOLECULAR GENETICS

Tubulin transport by IFT is upregulated during ciliary growth by a cilium-autonomous mechanism

(2015) Julie M. Craft et al.   JOURNAL OF CELL BIOLOGY

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis geneWDPCPin a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

(2014) Jonathan Saari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The proteins encoded by the Drosophila Planar Polarity Effector genes inturned, fuzzy and fritz interact physically and can re-pattern the accumulation of “upstream” Planar Cell Polarity proteins

(2014) Ying Wang et al.   DEVELOPMENTAL BIOLOGY

3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders

(2014) Rachel H Giles et al.   Nature Protocols

Xenbase, the Xenopus model organism database; new virtualized system, data types and genomes

(2014) J. Brad Karpinka et al.   NUCLEIC ACIDS RESEARCH

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

(2014) Xuan Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Christine P. Diggle et al.   PLoS Genetics

Overlapping phenotypes in OFD type II and OFD type VI

(2013) Inusha Panigrahi et al.   CLINICAL DYSMORPHOLOGY

Fuz Mutant Mice Reveal Shared Mechanisms between Ciliopathies and FGF-Related Syndromes

(2013) Jacqueline M. Tabler et al.   DEVELOPMENTAL CELL

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium

(2013) Yulia Zilber et al.   MOLECULAR BIOLOGY OF THE CELL

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

CCDC41 is required for ciliary vesicle docking to the mother centriole

(2013) K. Joo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolution of modular intraflagellar transport from a coatomer-like progenitor

(2013) T. J. P. van Dam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular Basis of Tubulin Transport Within the Cilium by IFT74 and IFT81

(2013) S. Bhogaraju et al.   SCIENCE

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

(2013) Cheng Cui et al.   PLOS BIOLOGY

Genome-Wide RNAi Screen Identifies Novel Host Proteins Required for Alphavirus Entry

(2013) Yaw Shin Ooi et al.   PLoS Pathogens

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis

(2012) Sarah C. Goetz et al.   CELL

Cilia in vertebrate development and disease

(2012) E. C. Oh et al.   DEVELOPMENT

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characterization of Joubert syndrome in Saudi Arabia

(2012) Anas M. Alazami et al.   HUMAN MUTATION

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

(2012) Karel F. Liem et al.   JOURNAL OF CELL BIOLOGY

Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz

(2012) Eric R. Brooks et al.   JOURNAL OF CELL BIOLOGY

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

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Ciliary motility: The components and cytoplasmic preassembly mechanisms of the axonemal dyneins

(2011) Daisuke Kobayashi et al.   DIFFERENTIATION

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

(2011) J. H. Seo et al.   HUMAN MOLECULAR GENETICS

Subunit Interactions and Organization of theChlamydomonas reinhardtiiIntraflagellar Transport Complex A Proteins

(2011) Robert H. Behal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals

(2010) Huiqing Zeng et al.   DEVELOPMENTAL BIOLOGY

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

(2010) S. Mukhopadhyay et al.   GENES & DEVELOPMENT

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

(2009) Amy E. Merrill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

pGenTHREADER and pDomTHREADER: new methods for improved protein fold recognition and superfamily discrimination

(2009) Anna Lobley et al.   BIOINFORMATICS

Advances and pitfalls of protein structural alignment

(2009) Hitomi Hasegawa et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development

(2009) Ryan S. Gray et al.   NATURE CELL BIOLOGY

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

(2008) Heymut Omran et al.   NATURE

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS