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

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

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

(2011) Ruxandra Bachmann-Gagescu et al.   HUMAN MOLECULAR GENETICS

A hierarchy of signals regulates entry of membrane proteins into the ciliary membrane domain in epithelial cells

(2011) Stephen S. Francis 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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

The ciliary membrane

(2010) Rajat Rohatgi et al.   CURRENT OPINION IN CELL BIOLOGY

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

(2010) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu–Gli protein complexes

(2010) Hanna Tukachinsky 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

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

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

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

(2010) Enza Maria Valente et al.   NATURE GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

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

(2010) Q. Hu et al.   SCIENCE

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

(2009) Magdalena Cardenas-Rodriguez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

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

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

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

(2009) Madeline A Lancaster et al.   NATURE MEDICINE

High-throughput generation of tagged stable cell lines for proteomic analysis

(2009) Jorge Z. Torres et al.   PROTEOMICS

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

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

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

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

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

The stumpy gene is required for mammalian ciliogenesis

(2008) T. Town et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling

(2008) J. J. Breunig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Kinome siRNA Screen Identifies Regulators of Ciliogenesis and Hedgehog Signal Transduction

(2008) M. Evangelista et al.   Science Signaling