IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

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

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase

(2013) Karl F. Lechtreck et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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

IFT25 Links the Signal-Dependent Movement of Hedgehog Components to Intraflagellar Transport

(2012) Brian T. Keady et al.   DEVELOPMENTAL CELL

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Crystal structure of the intraflagellar transport complex 25/27

(2011) Sagar Bhogaraju et al.   EMBO JOURNAL

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Qilin Is Essential for Cilia Assembly and Normal Kidney Development in Zebrafish

(2011) Jade Li et al.   PLoS One

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Hua Jin et al.   CELL

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

(2009) Nathalie Dagoneau et al.   AMERICAN JOURNAL OF HUMAN 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

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Intraflagellar Transport (IFT) Protein IFT25 Is a Phosphoprotein Component of IFT Complex B and Physically Interacts with IFT27 in Chlamydomonas

(2009) Zhaohui Wang et al.   PLoS One

HA-tagging of putative flagellar proteins inChlamydomonas reinhardtiiidentifies a novel protein of intraflagellar transport complex B

(2009) Karl-Ferdinand Lechtreck et al.   CELL MOTILITY AND THE CYTOSKELETON

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

(2008) Marwan K. Tayeh et al.   HUMAN MOLECULAR GENETICS

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

(2008) Carmen C Leitch et al.   NATURE GENETICS