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

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

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

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

(2014) Marta Romani et al.   Orphanet Journal of Rare Diseases

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

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

(2013) Christopher T. Gordon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions

(2013) Karina Tuz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations inTMEM231cause Meckel–Gruber syndrome

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Scoring a backstage pass: Mechanisms of ciliogenesis and ciliary access

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

Mutations inTMEM231cause Joubert syndrome in French Canadians

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

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

(2012) M. C. Humbert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle 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

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

(2011) Katharina Hopp et al.   HUMAN MOLECULAR GENETICS

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

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

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

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

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

See-saw winking in a familial oral-facial-digital syndrome

(2010) Gerald I. Sugarman et al.   CLINICAL GENETICS

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport inCaenorhabditis elegans

(2010) Sebiha Cevik et al.   JOURNAL OF CELL BIOLOGY

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

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

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

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

(2010) Q. Hu et al.   SCIENCE

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

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

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

(2009) N. J. Bialas et al.   JOURNAL OF CELL SCIENCE

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS