Novel dominant-negative mutant of GATA3 in HDR syndrome

Journal of Molecular Medicine

Volumn 89, Issue 1, 2011, Pages 43-50

  Ohta, Masaaki ^a   Eguchi Ishimae, Minenori ^b   Ohshima, Mayumi ^b   Iwabuki, Hidehiko ^b   Takemoto, Koji ^a   Murao, Kikuko ^b   Chisaka, Toshiyuki ^b   Yamamoto, Eiichi ^a   Higaki, Takashi ^a   Isoyama, Keiichi ^c   Eguchi, Mariko ^a   Ishii, Eiichi ^b  

^a EHIME UNIVERSITY HOSPITAL   (Japan)

^b EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c SHOWA UNIVERSITY FUJIGAOKA HOSPITAL   (Japan)

Author keywords

Dominant negative effect; GATA3 mutation; HDR syndrome

Indexed keywords

TRANSCRIPTION FACTOR GATA 3;

ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CODON; DNA BINDING; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; GENE MUTATION; GENETIC ANALYSIS; HDR SYNDROME; HUMAN; HYPOPARATHYROIDISM; KIDNEY MALFORMATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PATHOGENESIS; PERCEPTION DEAFNESS; PROTEIN EXPRESSION;

ANIMALS; BASE SEQUENCE; CELL CULTURE TECHNIQUES; CERCOPITHECUS AETHIOPS; COS CELLS; DNA-BINDING PROTEINS; GATA3 TRANSCRIPTION FACTOR; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HEK293 CELLS; HUMANS; HYPOPARATHYROIDISM; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; NEPHROSIS; TRANSCRIPTIONAL ACTIVATION;

EID: 78651350094     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0702-6     Document Type: Article

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