Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Human Molecular Genetics

Volumn 22, Issue 11, 2013, Pages 2177-2185

  Frank, Valeska ^a   Habbig, Sandra ^b   Bartram, Malte P ^b   Eisenberger, Tobias ^a   Veenstra Knol, Hermine E ^d   Decker, Christian ^a   Boorsma, Reinder A C ^e   Göbel, Heike ^b   Nürnberg, Gudrun ^c   Griessmann, Anabel ^b   Franke, Mareike ^b   Borgal, Lori ^b   Kohli, Priyanka ^b   Völker, Linus A ^b   Dötsch, Jörg ^b   Nürnberg, Peter ^b,c   Benzing, Thomas ^b   Bolz, Hanno J ^a,b   Johnson, Colin ^f   Gerkes, Erica H ^d   Schermer, Bernhard ^b   Bergmann, Carsten ^a,g,h   more..

^a Center for Human Genetics   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e Pathology Laboratory Friesland   (Netherlands)

^f UNIVERSITY OF LEEDS   (United Kingdom)

^g RWTH AACHEN UNIVERSITY   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MYC PROTEIN; NPHP3 PROTEIN; PROTEIN; PROTEIN SERINE THREONINE KINASE; SERINE THREONINE PROTEIN KINASE 8; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL CULTURE; CELL CYCLE PROGRESSION; CHROMOSOME 17Q; CHROMOSOME 17Q11; CONTROLLED STUDY; DYNAMICS; DYSPLASIA; FEMALE; FETUS; FIBROBLAST; GENE; GENE LOCUS; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; MISSENSE MUTATION; MOUSE; MULTIPLE ORGAN DYSPLASIA; NEPHRONOPHTHISIS; NONHUMAN; NONSENSE MUTATION; ONCOGENE C MYC; ORGANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; UPREGULATION;

ABNORMALITIES, MULTIPLE; CELL LINE; CONSANGUINITY; DANDY-WALKER SYNDROME; FEMALE; FETUS; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MUTATION; PANCREATIC CYST; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; PROTO-ONCOGENE PROTEINS C-MYC; SIGNAL TRANSDUCTION; TRPP CATION CHANNELS;

EID: 84877905805     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt070     Document Type: Article

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