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

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

Identification of a novel MKS locus defined byTMEM107mutation

(2015) Ranad Shaheen 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

The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly inC. elegans

(2015) Clementine Schouteden et al.   JOURNAL OF CELL BIOLOGY

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks

(2014) Amy R Barker et al.   BMC GENOMICS

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

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

(2014) Rachel H Giles et al.   Nature Protocols

Compartments within a compartment

(2014) Oliver E Blacque et al.   Organogenesis

Heritable genome editing in C. elegans via a CRISPR-Cas9 system

(2013) Ari E Friedland et al.   NATURE METHODS

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

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

(2013) Sebiha Cevik et al.   PLoS Genetics

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

(2012) Kasey J. Christopher et al.   DEVELOPMENTAL 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

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

(2012) Hooi Lynn Kee et al.   NATURE CELL BIOLOGY

Actin, Spectrin, and Associated Proteins Form a Periodic Cytoskeletal Structure in Axons

(2012) K. Xu et al.   SCIENCE

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

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

Confined activation and subdiffractive localization enables whole-cell PALM with genetically expressed probes

(2011) Andrew G York et al.   NATURE METHODS

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

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

Normal Ciliogenesis Requires Synergy between the Cystic Kidney Disease Genes MKS-3 and NPHP-4

(2010) C. L. Williams et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

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

(2010) Q. Hu et al.   SCIENCE

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

(2009) H. R. Dawe et al.   JOURNAL OF CELL SCIENCE

A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis

(2009) Joshua M. Baughman et al.   PLoS Genetics

TheCaenorhabditis elegansnephrocystins act as global modifiers of cilium structure

(2008) Andrew R. Jauregui et al.   JOURNAL OF CELL BIOLOGY

Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis

(2008) Corey L. Williams et al.   MOLECULAR BIOLOGY OF THE CELL

Practical and theoretical advances in predicting the function of a protein by its phylogenetic distribution

(2007) P. R Kensche et al.   Journal of the Royal Society Interface