WDR34 mutations that cause short-rib polydactyly syndrome type 3/severe asphyxiating thoracic dysplasia reveal a role for the NF-kB pathway in cilia

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 926-931

  Huber, Céline ^a   Wu, Sulin ^b   Kim, Ashley S ^b   Sigaudy, Sabine ^c   Sarukhanov, Anna ^b   Serre, Valérie ^a   Baujat, Genevieve ^a   Sang, Kim Hanh Le Quan ^a   Rimoin, David L ^b,d   Cohn, Daniel H ^b,d,e   Munnich, Arnold ^a   Krakow, Deborah ^b,d   Cormier Daire, Valérie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c TIMONE HOSPITAL   (France)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLATHRIN; COAT PROTEIN COMPLEX I; COAT PROTEIN COMPLEX II; DNA; DOUBLECORTIN LIKE KINASE 2; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 1; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; PHOSPHOTRANSFERASE; PROTEIN; TOLL LIKE RECEPTOR 3; TOLL LIKE RECEPTOR 4; UNCLASSIFIED DRUG; WD REPEAT CONTAINING PROTEIN 34;

AMINO ACID SUBSTITUTION; ARTICLE; ASPHYXIA; CARTILAGE CELL; CELL MIGRATION; CHONDRODYSPLASIA; CHROMOSOME 9Q; CYTOPLASMIC DYNEIN 2 HEAVY CHAIN GENE; EUKARYOTIC FLAGELLUM; FIBROBLAST; GENE MAPPING; GENE OVEREXPRESSION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; IFT80 GENE; LIMIT OF DETECTION; MICROMELIA; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FAMILY; PROTEIN PHOSPHORYLATION; PROTEIN STRUCTURE; RESPIRATORY FAILURE; SEVERE ASPHYXIATING THORACIC DYSPLASIA; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTRIN BETA NON ERYTHROCYTIC 5 GENE; THORAX MALFORMATION; ULTRASOUND; VACUOLAR PROTEIN SORTING 10 GENE; VERMA NAUMOFF SYNDROME;

EID: 84890206285     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.007     Document Type: Article

References (19)

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