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

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

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

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

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

(2013) Heon Yung Gee et al.   KIDNEY INTERNATIONAL

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

(2013) S. Bhogaraju et al.   SCIENCE

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN 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

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

(2012) Jeremy C McIntyre et al.   NATURE MEDICINE

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

(2012) A. Aguilar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human limb abnormalities caused by disruption of hedgehog signaling

(2012) Eve Anderson et al.   TRENDS IN GENETICS

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Biochemical Mapping of Interactions within the Intraflagellar Transport (IFT) B Core Complex

(2011) Michael Taschner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

(2011) J. Qin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Direct Interactions of Intraflagellar Transport Complex B Proteins IFT88, IFT52, and IFT46

(2010) Ben F. Lucker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of mouse IFT complex B

(2009) John A. Follit et al.   CELL MOTILITY AND THE CYTOSKELETON

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

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

(2008) Pamela V Tran et al.   NATURE GENETICS

Leber Congenital Amaurosis: From Darkness to Spotlight

(2008) Josseline Kaplan   OPHTHALMIC GENETICS