Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

EFCAB7 and IQCE Regulate Hedgehog Signaling by Tethering the EVC-EVC2 Complex to the Base of Primary Cilia

(2014) Ganesh V. Pusapati et al.   DEVELOPMENTAL CELL

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

(2013) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two-Exon Skipping within MLPH Is Associated with Coat Color Dilution in Rabbits

(2013) Stefanie Lehner et al.   PLoS One

WDR35mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

(2012) Carlos A. Bacino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2

(2012) Cuiping Yang et al.   CELL RESEARCH

NovelWDR35mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

(2012) JL Hoffer et al.   CLINICAL GENETICS

A Smoothened-Evc2 Complex Transduces the Hedgehog Signal at Primary Cilia

(2012) Karolin V. Dorn et al.   DEVELOPMENTAL CELL

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

(2012) Maria Cecilia D'Asdia et al.   European Journal of Medical Genetics

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

(2012) Jose A. Caparrós-Martín et al.   HUMAN MOLECULAR GENETICS

Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a inOXCT1Gene: Study on Intermediates ofOXCT1Transcripts in Fibroblasts

(2012) Tomohiro Hori et al.   HUMAN MUTATION

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

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

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

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

(2011) Helen J Blair et al.   BMC BIOLOGY

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Nephrocystin-4 Regulates Pyk2-induced Tyrosine Phosphorylation of Nephrocystin-1 to Control Targeting to Monocilia

(2011) Max C. Liebau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Subunit Interactions and Organization of theChlamydomonas reinhardtiiIntraflagellar Transport Complex A Proteins

(2011) Robert H. Behal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

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

Mechanisms and functions of Hedgehog signalling across the metazoa

(2011) Philip W. Ingham et al.   NATURE REVIEWS GENETICS

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

(2011) Sofie Symoens 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

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

(2010) Bassam R Ali et al.   BMC Medical Genetics

Long interspersed nuclear element-1 (LINE1)-mediated deletion ofEVC,EVC2,C4orf6, andSTK32B in Ellis–van Creveld syndrome with borderline intelligence

(2008) Samia A. Temtamy et al.   HUMAN MUTATION