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

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

(2013) Miriam Schmidts et al.   HUMAN MUTATION

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

(2013) Georgina Caruana et al.   PLoS One

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 IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

(2012) Karel F. Liem et al.   JOURNAL OF CELL BIOLOGY

Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation

(2012) J. A. Jonassen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

(2011) Shehnaaz S.M. Manji et al.   AMERICAN JOURNAL OF PATHOLOGY

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling

(2011) Søren T Christensen et al.   JOURNAL OF PATHOLOGY

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Ciliopathies: an expanding disease spectrum

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

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

PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals

(2010) Huiqing Zeng et al.   DEVELOPMENTAL BIOLOGY

Twist1 activity thresholds define multiple functions in limb development

(2010) Dayana Krawchuk et al.   DEVELOPMENTAL BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Protein annotation and modelling servers at University College London

(2010) D. W. A. Buchan et al.   NUCLEIC ACIDS RESEARCH

Genomic features defining exonic variants that modulate splicing

(2010) Adam Woolfe et al.   GENOME BIOLOGY

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

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

The Primary Cilium as a Complex Signaling Center

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

sonic hedgehog is required in pulmonary endoderm for atrial septation

(2009) A. D. Hoffmann et al.   DEVELOPMENT

A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud

(2009) Patrick Hill et al.   DEVELOPMENTAL BIOLOGY

Tulp3 is a critical repressor of mouse hedgehog signaling

(2009) Don A. Cameron et al.   DEVELOPMENTAL DYNAMICS

Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

(2009) Victoria L. Patterson et al.   HUMAN MOLECULAR GENETICS

Electron-tomographic analysis of intraflagellar transport particle trains in situ

(2009) Gaia Pigino et al.   JOURNAL OF CELL BIOLOGY

A Self-Regulatory System of Interlinked Signaling Feedback Loops Controls Mouse Limb Patterning

(2009) J.-D. Benazet et al.   SCIENCE

Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis

(2008) Jennifer Slough et al.   DEVELOPMENTAL DYNAMICS

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

(2007) A. Boichard et al.   MOLECULAR GENETICS AND METABOLISM