Summary:

NameMetachronous rectal adenocarcinomas with dyskeratosis congenita (DC) (U:Y)
DescriptionDKC1 encodes dykerin which can induce the pseudoridylation of rRNA. Defects in the pseudouridylation activity of dyskerin is related to the development of malignancy in patients with DC
Related RNA reactionU:Y
Found in RNArRNA
Modified Transcript
Mapping TechnologyRNA-seq
Quantification techniques

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
DKC1 H/ACA ribonucleoprotein complex subunit DKC1 Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1078 Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report. Motoko Watanabe J Med Case Rep [details] 31027506 10.1186/s13256-019-2044-5

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