Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency

Human Mutation

Volumn 34, Issue 9, 2013, Pages 1250-1259

  Tan, Xiaohui ^a   Anzick, Sarah L ^a   Khan, Sikandar G ^a   Ueda, Takahiro ^a   Stone, Gary ^a   Digiovanna, John J ^a   Tamura, Deborah ^a   Wattendorf, Daniel ^b   Busch, David ^c   Brewer, Carmen C ^d   Zalewski, Christopher ^d   Butman, John A ^e   Griffith, Andrew J ^d   Meltzer, Paul S ^a   Kraemer, Kenneth H ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b Behavioral Health Proponency   (United States)

^c ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^d National Institute on Deafness and Other Communication Disorders   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Deafness; DiGeorge syndrome; Melanoma; P14ARF; PATRR22; TBX1

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR 8; STROMELYSIN 3;

ADULT; ARTICLE; CASE REPORT; CHIMERA; CHROMOSOME 22; CHROMOSOME 9P; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; COMPUTER ASSISTED TOMOGRAPHY; DISORDERS OF DNA SYNTHESIS AND REPAIR; DNA DAMAGE; DNA REPAIR; EXCISION REPAIR; GENE; GENE EXPRESSION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETIC REGULATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HUMAN; INTRON; MALE; MELANOMA; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN FIBROBLAST; TBX1 GENE;

EID: 84881611445     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22354     Document Type: Article

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