Severity of X-linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin (DKC1) Activity in Ribosomal RNA Biogenesis or mRNA Translation

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1698-1707

  Thumati, Naresh R ^a   Zeng, Xi Lei ^a   Au, Hilda H T ^a   Jang, Christopher J ^a   Jan, Eric ^a   Wong, Judy M Y ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

DKC1; Dyskerin; Ribosomal RNA; Ribosomes; X linked dyskeratosis congenita

Indexed keywords

DYSKERIN; PSEUDOURIDINE; RIBOSOME RNA; RNA 40S; RNA 60S; RNA 80S; TELOMERASE; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; CELL STRESS; CONTROLLED STUDY; DISEASE SEVERITY; DYSKERATOSIS CONGENITA; ENDOPLASMIC RETICULUM STRESS; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INTERNAL RIBOSOME ENTRY SITE; IONIZING RADIATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MODIFICATION; PROTEIN SYNTHESIS; RNA TRANSLATION; TELOMERE HOMEOSTASIS; X LINKED DYSKERATOSIS CONGENITA;

DKC1; DYSKERIN; RIBOSOMAL RNA; RIBOSOMES; X-LINKED DYSKERATOSIS CONGENITA;

CELL CYCLE PROTEINS; CELL LINE; CELL-FREE SYSTEM; DYSKERATOSIS CONGENITA; FIBROBLASTS; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION; NUCLEAR PROTEINS; PROTEIN BIOSYNTHESIS; RECOMBINANT PROTEINS; RIBOSOME SUBUNITS; RNA, RIBOSOMAL; SEVERITY OF ILLNESS INDEX; STRESS, PHYSIOLOGICAL; TELOMERASE; TELOMERE;

EID: 84887616020     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22447     Document Type: Article

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