Genes and molecular pathways underpinning ciliopathies

NovelIFT122mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

(2016) Shahida Moosa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of centriolar satellite integrity and its physiology

(2016) Akiko Hori et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A novelHYLS1homozygous mutation in living siblings with Joubert syndrome

(2016) M. Oka et al.   CLINICAL GENETICS

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

(2016) J. Thevenon et al.   CLINICAL GENETICS

The intraflagellar transport machinery in ciliary signaling

(2016) André Mourão et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

TAp73 is a central transcriptional regulator of airway multiciliogenesis

(2016) Alice Nemajerova et al.   GENES & DEVELOPMENT

An inactivating mutation in intestinal cell kinase,ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

(2016) S. Paige Taylor et al.   HUMAN MOLECULAR GENETICS

IFT52mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

(2016) Wenjuan Zhang et al.   HUMAN MOLECULAR GENETICS

TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

(2016) Dino Maglic et al.   HUMAN MUTATION

PACRG, a protein linked to ciliary motility, mediates cellular signaling

(2016) Catrina M. Loucks et al.   MOLECULAR BIOLOGY OF THE CELL

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left–right asymmetry

(2016) Erica Silva et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2016) Michinori Toriyama et al.   NATURE GENETICS

Hedgehog signaling promotes basal progenitor expansion and the growth and folding of the neocortex

(2016) Lei Wang et al.   NATURE NEUROSCIENCE

Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development

(2016) Kazuo Noda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary Cilia and Mammalian Hedgehog Signaling

(2016) Fiona Bangs et al.   Cold Spring Harbor Perspectives in Biology

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

(2016) Karsten Boldt et al.   Nature Communications

Impaired immunological synapse in sperm associated antigen 6 (SPAG6) deficient mice

(2016) Lauren Folgosa Cooley et al.   Scientific Reports

Hedgehog Signaling Regulates the Ciliary Transport of Odorant Receptors in Drosophila

(2016) Gonzalo M. Sanchez et al.   Cell Reports

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

(2016) Chunmei Li et al.   PLOS BIOLOGY

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport

(2016) Victor L. Jensen et al.   PLoS Genetics

Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT)

(2016) Tiffany A. Timbers et al.   PLoS Genetics

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

(2015) Gagan D. Gupta et al.   CELL

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

(2015) Ankur A. Gholkar et al.   CELL CYCLE

The small GTPase Rab29 is a common regulator of immune synapse assembly and ciliogenesis

(2015) A Onnis et al.   CELL DEATH AND DIFFERENTIATION

Mother Centriole Distal Appendages Mediate Centrosome Docking at the Immunological Synapse and Reveal Mechanistic Parallels with Ciliogenesis

(2015) Jane C. Stinchcombe et al.   CURRENT BIOLOGY

Mcidas and GemC1 are key regulators for the generation of multiciliated ependymal cells in the adult neurogenic niche

(2015) C. Kyrousi et al.   DEVELOPMENT

IFT46 plays an essential role in cilia development

(2015) Mi-Sun Lee et al.   DEVELOPMENTAL BIOLOGY

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

(2015) V. L. Jensen et al.   EMBO JOURNAL

Ins and outs of GPCR signaling in primary cilia

(2015) K. B. Schou et al.   EMBO REPORTS

Mistrafficking of prenylated proteins causes retinitis pigmentosa 2

(2015) Houbin Zhang et al.   FASEB JOURNAL

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

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

(2015) Elle C. Roberson 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

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

(2015) Nils J. Lambacher et al.   NATURE CELL BIOLOGY

Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation

(2015) Quanlong Lu et al.   NATURE CELL BIOLOGY

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

Model network: Canadian program aims to generate models for rare disease

(2015) Katherine Ellen Foley   NATURE MEDICINE

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

(2015) Laura E. Yee et al.   PLoS Genetics

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

(2015) Andrew Kodani et al.   eLife

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

(2014) Marion Failler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cilia and polycystic kidney disease, kith and kin

(2014) Liwei Huang et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

A Migrating Ciliary Gate Compartmentalizes the Site of Axoneme Assembly in Drosophila Spermatids

(2014) Marcus L. Basiri et al.   CURRENT BIOLOGY

Switching on cilia: transcriptional networks regulating ciliogenesis

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

The Intraflagellar Transport Protein IFT27 Promotes BBSome Exit from Cilia through the GTPase ARL6/BBS3

(2014) Gerald M. Liew et al.   DEVELOPMENTAL CELL

IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

(2014) Thibaut Eguether et al.   DEVELOPMENTAL CELL

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

(2014) Kinga M. Bujakowska et al.   HUMAN MOLECULAR GENETICS

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

(2014) Tetsuo Kobayashi et al.   JOURNAL OF CELL BIOLOGY

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone

(2014) J. Awata et al.   JOURNAL OF CELL SCIENCE

A central region of Gli2 regulates its localization to the primary cilium and transcriptional activity

(2014) N. Santos et al.   JOURNAL OF CELL SCIENCE

RFX7 is required for the formation of cilia in the neural tube

(2014) Zarko Manojlovic et al.   MECHANISMS OF DEVELOPMENT

miR-34/449 miRNAs are required for motile ciliogenesis by repressing cp110

(2014) Rui Song et al.   NATURE

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

(2014) Christel Thauvin-Robinet et al.   NATURE GENETICS

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

Cortical neurogenesis in the absence of centrioles

(2014) Ryan Insolera et al.   NATURE NEUROSCIENCE

Regulation of Cilium Length and Intraflagellar Transport by the RCK-Kinases ICK and MOK in Renal Epithelial Cells

(2014) Joost R. Broekhuis et al.   PLoS One

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

Nephronophthisis and Retinal Degeneration in Tmem218–/– Mice

(2014) P. Vogel et al.   VETERINARY PATHOLOGY

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

(2014) Mieke Boon et al.   Nature Communications

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

(2013) Miriam Schmidts et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

(2013) Jan Halbritter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

Centriole distal appendages promote membrane docking, leading to cilia initiation

(2013) B. E. Tanos et al.   GENES & DEVELOPMENT

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

(2013) Sophie Thomas et al.   HUMAN MUTATION

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

(2013) David K. Breslow et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone

(2013) Maren Klinger et al.   MOLECULAR BIOLOGY OF THE CELL

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality

(2013) Marko T. Boskovski et al.   NATURE

The roles of evolutionarily conserved functional modules in cilia-related trafficking

(2013) Ching-Hwa Sung et al.   NATURE CELL BIOLOGY

Chemically inducible diffusion trap at cilia reveals molecular sieve–like barrier

(2013) Yu-Chun Lin et al.   Nature Chemical Biology

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

The mechanisms of Hedgehog signalling and its roles in development and disease

(2013) James Briscoe et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

FOP Is a Centriolar Satellite Protein Involved in Ciliogenesis

(2013) Joanna Y. Lee et al.   PLoS One

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

The role of primary cilia in the development and disease of the retina

(2013) Gabrielle Wheway et al.   Organogenesis

Cilia and coordination of signaling networks during heart development

(2013) Karen Koefoed et al.   Organogenesis

Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia

(2013) Alexander V. Loktev et al.   Cell Reports

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

Proteomic Analysis of Mammalian Primary Cilia

(2012) Hiroaki Ishikawa et al.   CURRENT BIOLOGY

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

(2012) Jose A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

(2012) Alyson Ashe et al.   HUMAN MOLECULAR GENETICS

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

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

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

(2012) Francesc R. Garcia-Gonzalo et al.   JOURNAL OF CELL BIOLOGY

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

(2012) Kerstin N. Schmidt et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

Mutations inTMEM231cause Joubert syndrome in French Canadians

(2012) Myriam Srour et al.   JOURNAL OF MEDICAL GENETICS

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

Hedgehog-Stimulated Chemotaxis Is Mediated by Smoothened Located Outside the Primary Cilium

(2012) M. F. Bijlsma et al.   Science Signaling

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

(2011) Rıza Köksal Özgül et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ultrastructure of cilia and flagella - back to the future!

(2011) Cathy Fisch et al.   BIOLOGY OF THE CELL

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

(2011) Liyun Sang et al.   CELL

Transcriptional profiling of C. elegans DAF-19 uncovers a ciliary base-associated protein and a CDK/CCRK/LF2p-related kinase required for intraflagellar transport

(2011) Prasad Phirke et al.   DEVELOPMENTAL BIOLOGY

RFX2 is broadly required for ciliogenesis during vertebrate development

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

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

(2011) Chengtian Zhao et al.   EMBO JOURNAL

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

(2011) K. J. Wright et al.   GENES & DEVELOPMENT

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila

(2011) Maria Giovanna Rossetto et al.   HUMAN MOLECULAR GENETICS

Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates

(2011) Tatsuo Miyamoto et al.   HUMAN MOLECULAR GENETICS

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

(2011) J. M. Friedland-Little et al.   HUMAN MOLECULAR GENETICS

Tracing the origins of centrioles, cilia, and flagella

(2011) Zita Carvalho-Santos et al.   JOURNAL OF CELL BIOLOGY

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams 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

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

Steric volume exclusion sets soluble protein concentrations in photoreceptor sensory cilia

(2011) M. Najafi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

(2011) Seongjin Seo et al.   PLoS Genetics

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins

(2010) Jacqueline S. Domire et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

Sensory reception is an attribute of both primary cilia and motile cilia

(2010) R. A. Bloodgood   JOURNAL OF CELL SCIENCE

Coordination of Rab8 and Rab11 in primary ciliogenesis

(2010) A. Knodler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Septin Diffusion Barrier at the Base of the Primary Cilium Maintains Ciliary Membrane Protein Distribution

(2010) Q. Hu et al.   SCIENCE

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

(2010) Pamela R. Pretorius et al.   PLoS Genetics

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

(2009) Victor L. Ruiz-Perez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Olfactory Cilia: Linking Sensory Cilia Function and Human Disease

(2009) P. M. Jenkins et al.   CHEMICAL SENSES

Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4

(2009) Jana Mazelova et al.   EMBO JOURNAL

Distribution of EFHC1 or Myoclonin 1 in mouse neural structures

(2009) Christine Léon et al.   EPILEPSY RESEARCH

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation

(2009) A. Dammermann et al.   GENES & DEVELOPMENT

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

(2009) Toshimitsu Suzuki et al.   HUMAN MOLECULAR GENETICS

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

(2009) Seongjin Seo et al.   HUMAN MOLECULAR GENETICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli 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

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

The Exocyst Protein Sec10 Is Necessary for Primary Ciliogenesis and Cystogenesis In Vitro

(2009) Xiaofeng Zuo et al.   MOLECULAR BIOLOGY OF THE CELL

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

(2009) Francesca Finetti et al.   NATURE CELL BIOLOGY

The Rfx4 Transcription Factor Modulates Shh Signaling by Regional Control of Ciliogenesis

(2009) A. M. Ashique et al.   Science Signaling

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

(2008) Heymut Omran et al.   NATURE

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA