An inactivating mutation in intestinal cell kinase,ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

(2015) Caroline Alby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ERK1 and ERK2 Regulate Chondrocyte Terminal Differentiation During Endochondral Bone Formation

(2015) Zhijun Chen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations in human homologue of chickentalpid3gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

(2015) May Christine V Malicdan et al.   JOURNAL OF MEDICAL GENETICS

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

(2015) S. Paige Taylor et al.   Nature Communications

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

(2014) Michael Yourshaw et al.   BRIEFINGS IN BIOINFORMATICS

ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport

(2014) T. Chaya et al.   EMBO JOURNAL

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

(2014) Ranad Shaheen et al.   HUMAN MOLECULAR GENETICS

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

(2014) Mu He et al.   NATURE CELL BIOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Regulation of Cilium Length and Intraflagellar Transport by the RCK-Kinases ICK and MOK in Renal Epithelial Cells

(2014) Joost R. Broekhuis et al.   PLoS One

Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling

(2014) H. Moon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

(2013) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

(2013) Miriam Schmidts et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner

(2013) Ying Yang et al.   EMBO REPORTS

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

(2013) Miriam Schmidts et al.   HUMAN MUTATION

The paradox of FGFR3 signaling in skeletal dysplasia: Why chondrocytes growth arrest while other cells over proliferate

(2013) Pavel Krejci   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

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

CDD: conserved domains and protein three-dimensional structure

(2012) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

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

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez 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

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1

(2011) L-Y Wang et al.   ONCOGENE

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

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

FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence

(2010) Pavel Krejci et al.   BONE

A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu–Gli protein complexes

(2010) Hanna Tukachinsky et al.   JOURNAL OF CELL BIOLOGY

Freeze substitution followed by low melting point wax embedding preserves histomorphology and allows protein and mRNA localization techniques

(2010) Iván Durán et al.   MICROSCOPY RESEARCH AND TECHNIQUE

Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP

(2010) John F. Dishinger et al.   NATURE CELL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

(2009) Piya Lahiry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

(2009) Amy E. Merrill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Intestinal cell kinase, a MAP kinase-related kinase, regulates proliferation and G1 cell cycle progression of intestinal epithelial cells

(2009) Zheng Fu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

The Mammalian Cos2 Homolog Kif7 Plays an Essential Role in Modulating Hh Signal Transduction during Development

(2009) Setsu Endoh-Yamagami et al.   CURRENT BIOLOGY

Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia

(2009) Jinping Jia et al.   DEVELOPMENTAL BIOLOGY

Planar cell polarity effector geneFuzzyregulates cilia formation and Hedgehog signal transduction in mouse

(2009) Westley Heydeck et al.   DEVELOPMENTAL DYNAMICS

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

(2009) D. P. Cavalcanti et al.   JOURNAL OF MEDICAL GENETICS

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

(2009) H. O.-L. Cheung et al.   Science Signaling

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

(2008) Mark C White et al.   BMC CELL BIOLOGY

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

(2008) A. N. Hoover et al.   DEVELOPMENT

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

(2008) Salvatore Cortellino et al.   DEVELOPMENTAL BIOLOGY

STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes

(2008) P. Krejci et al.   JOURNAL OF CELL SCIENCE