Expression of IFT140 During Bone Development

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Ciliary IFT80 balances canonical versus non-canonical hedgehog signalling for osteoblast differentiation

(2016) Xue Yuan et al.   Nature Communications

Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton

(2014) Xue Yuan et al.   Annals of the New York Academy of Sciences

Distinct functions for IFT140 and IFT20 in opsin transport

(2014) Jacquelin A. Crouse et al.   Cytoskeleton

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

(2014) Arif O. Khan et al.   JOURNAL OF AAPOS

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

(2013) Kerry A. Miller et al.   PLoS Genetics

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

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

(2012) Alyson Ashe et al.   HUMAN MOLECULAR GENETICS

The Primary Cilium as a Novel Extracellular Sensor in Bone

(2012) David A. Hoey et al.   Frontiers in Endocrinology

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

(2011) Pleasantine Mill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

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

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

(2010) S. Mukhopadhyay et al.   GENES & DEVELOPMENT

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Intraflagellar transport: it's not just for cilia anymore

(2009) Cosima T Baldari et al.   CURRENT OPINION IN CELL BIOLOGY

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

(2009) Francesca Finetti et al.   NATURE CELL BIOLOGY

Uncoupling Sonic Hedgehog Control of Pattern and Expansion of the Developing Limb Bud

(2008) Jianjian Zhu et al.   DEVELOPMENTAL CELL