The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4

(2016) Svetlana V. Masyukova et al.   PLoS Genetics

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

(2015) Eugenia Migliavacca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output

(2015) Marcelo Chávez et al.   DEVELOPMENTAL CELL

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

(2015) Sheila Castro-Sánchez et al.   JOURNAL OF MEDICAL GENETICS

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

(2015) Isabelle Perrault et al.   JOURNAL OF MEDICAL GENETICS

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

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

Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly

(2014) Michael Taschner et al.   JOURNAL OF CELL BIOLOGY

The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

(2014) Mu He et al.   NATURE CELL BIOLOGY

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

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

(2013) Q. Zhang et al.   JOURNAL OF CELL SCIENCE

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

(2013) S. Bhogaraju et al.   SCIENCE

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

(2012) Sarah C. Goetz et al.   CELL

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

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

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

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

A Simple Cell-Based Assay Reveals That Diverse Neuropsychiatric Risk Genes Converge on Primary Cilia

(2012) Aaron Marley et al.   PLoS One

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

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

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

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

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

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

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

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

(2011) Seongjin Seo et al.   PLoS Genetics

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

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

Neuronal ciliary signaling in homeostasis and disease

(2010) Jill A. Green et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The primary cilium: a signalling centre during vertebrate development

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

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

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

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

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

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

TheChlamydomonas reinhardtiiBBSome is an IFT cargo required for export of specific signaling proteins from flagella

(2009) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

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

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

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

FKBP8 cell-autonomously controls neural tube patterning through a Gli2- and Kif3a-dependent mechanism

(2008) Ahryon Cho et al.   DEVELOPMENTAL BIOLOGY

The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development

(2008) Christine Insinna et al.   DEVELOPMENTAL BIOLOGY

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblasts

(2008) Polloneal Jymmiel R. Ocbina et al.   DEVELOPMENTAL DYNAMICS

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS

Association of common variants in the Joubert syndrome gene (AHI1) with autism

(2008) Ana I. Alvarez Retuerto et al.   HUMAN MOLECULAR GENETICS

Intraflagellar transport motors in cilia: moving along the cell's antenna

(2008) Jonathan M. Scholey   JOURNAL OF CELL BIOLOGY

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

(2008) Pamela V Tran 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