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

Human Molecular Genetics

Volumn 24, Issue 14, 2015, Pages 4126-4137

  Caparrós martín, José A ^a,b   De Luca, Alessandro ^c   Cartault, François ^d   Aglan, Mona ^e   Temtamy, Samia ^e   Otaify, Ghada A ^e   Mehrez, Mennat ^e   Valencia, María ^a,b   Vázquez, Laura ^a   Alessandri, Jean Luc ^d   Nevado, Julián ^b,f   Rueda Arenas, Inmaculada ^f   Heath, Karen E ^b,f   Digilio, Maria Cristina ^g   Dallapiccola, Bruno ^g   Goodship, Judith A ^h   Mill, Pleasantine ⁱ   Lapunzina, Pablo ^b,f   Ruiz Perez, Victor L ^a,b  

^a CSIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d CHU de la Réunion Hôpital Félix Guyon   (France)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; INTRAFLAGELLAR TRANSPORT PROTEIN 121; SMOOTHENED PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; G PROTEIN COUPLED RECEPTOR; PROTEIN; SMO PROTEIN, HUMAN; WDR35 PROTEIN, HUMAN;

ANIMAL CELL; ANTIBODY PRODUCTION; ARTICLE; BONE DYSPLASIA; BRACHYDACTYLY; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX FORMATION; CONGENITAL HEART DISEASE; CONSANGUINITY; CRANIOFACIAL SYNOSTOSIS; ELLIS VAN CREVELD SYNDROME; EUKARYOTIC FLAGELLUM; EXON; FIBROBLAST; FUNNEL CHEST; GENE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENOMIC FRAGMENT; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; KIDNEY DISEASE; LIVER DISEASE; MOUSE; NONHUMAN; NULL CELL; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA DYSTROPHY; RNA SPLICING; SCANTY HAIR; SITE DIRECTED MUTAGENESIS; SYNDACTYLY; TOOTH MALFORMATION; WDR35 GENE; CELL CULTURE; EXOME; GENETIC VARIATION; GENETICS; INFANT; METABOLISM; PEDIGREE; PRESCHOOL CHILD; SIGNAL TRANSDUCTION;

ERINACEIDAE;

CELLS, CULTURED; CHILD, PRESCHOOL; CILIA; ELLIS-VAN CREVELD SYNDROME; EXOME; EXONS; FIBROBLASTS; GENETIC VARIATION; HUMANS; INFANT; PEDIGREE; PHENOTYPE; PROTEINS; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION; SMOOTHENED RECEPTOR;

EID: 84936757272     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv152     Document Type: Article

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