Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

Blood

Volumn 121, Issue 6, 2013, Pages 1028-1038

  Hilcenko, Christine ^a,b   Simpson, Paul J ^a,b   Finch, Andrew J ^a,b   Bowler, Frank R ^a   Churcher, Mark J ^a,b   Jin, Li ^a,b   Packman, Len C ^a   Shlien, Adam ^c   Campbell, Peter ^b,c   Kirwan, Michael ^d   Dokal, Inderjeet ^d   Warren, Alan J ^a,b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; ADENOSINE; EXORIBONUCLEASE; PHOSPHATASE; SMALL NUCLEAR RNA; UNCLASSIFIED DRUG; URIDINE; USB1 PROTEIN; 2',5' OLIGOADENYLIC ACID; 2',5'-OLIGOADENYLATE; C16ORF57 PROTEIN, HUMAN; OLIGORIBONUCLEOTIDE; PHOSPHODIESTERASE; U6 SMALL NUCLEAR RNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADENYLATION; ARTICLE; CELL NUCLEUS; CONTROLLED STUDY; CRYSTAL STRUCTURE; EXOSOME; HUMAN; HUMAN CELL; LYMPHOBLAST; NEUTROPENIA; NONHUMAN; NUCLEOTIDE SEQUENCE; POIKILODERMA; POIKILODERMA WITH NEUTROPENIA; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN PROCESSING; SEQUENCE HOMOLOGY; SPLICEOSOME; AMINO ACID SEQUENCE; BIOLOGICAL MODEL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; CONGENITAL SKIN DISEASE; ENZYME ACTIVE SITE; GENETIC COMPLEMENTATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MOLECULAR GENETICS; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; SACCHAROMYCES CEREVISIAE; X RAY CRYSTALLOGRAPHY;

3' UNTRANSLATED REGIONS; ADENINE NUCLEOTIDES; AMINO ACID SEQUENCE; BASE SEQUENCE; CATALYTIC DOMAIN; CELL LINE; CRYSTALLOGRAPHY, X-RAY; GENETIC COMPLEMENTATION TEST; HUMANS; MODELS, GENETIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; OLIGORIBONUCLEOTIDES; PHOSPHORIC DIESTER HYDROLASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, SMALL NUCLEAR; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID; SKIN ABNORMALITIES; SPLICEOSOMES; URIDINE;

MLCS; MLOWN;

EID: 84873603856     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-10-461491     Document Type: Article

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