β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): Molecular mechanisms underlying reduced transcript levels of the β-globinL1 allele

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1361-1365

  Lanikova, Lucie ^a,b   Kucerova, Jana ^a   Indrak, Karel ^a   Divoka, Martina ^a   Issa, Jean Pierre ^c   Papayannopoulou, Thalia ^d   Prchal, Josef T ^b   Divoky, Vladimir ^a  

^a PALACKÝ UNIVERSITY   (Czech Republic)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

globin; thalassemia; Epigenetic repression; HBB; LINE 1

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; HEMOGLOBIN BETA CHAIN; HISTONE DEACETYLASE INHIBITOR; MESSENGER RNA; TRICHOSTATIN A;

ALLELE; ARTICLE; BETA THALASSEMIA; CHROMATIN STRUCTURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA METHYLATION; ENHANCER REGION; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; INTRON; LENGTH TRANSPOSABLE ELEMENT 1; MOLECULAR GENETICS; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; PROMOTER REGION; RISK FACTOR; SIGNAL TRANSDUCTION; TRANSPOSON;

EPIGENETIC REPRESSION; HBB; LINE-1; Β-GLOBIN; Β-THALASSEMIA;

ADULT; ALLELES; ALTERNATIVE SPLICING; BETA-GLOBINS; BETA-THALASSEMIA; CPG ISLANDS; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENE ORDER; GENE SILENCING; HUMANS; INTRONS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MUTAGENESIS, INSERTIONAL; PROMOTER REGIONS, GENETIC; RNA STABILITY; TRANSCRIPTION, GENETIC;

EID: 84884532166     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22383     Document Type: Article

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