Rubinstein-Taybi syndrome

Ru·bin·stein-Tay·bi syn·drome

(rū'bĭn-stīn tā'bē), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic chromosomal defect may be causative, but evidence suggests that this syndrome is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein on chromosome 16p.

CREBBP

A gene on chromosome 16p13.3 that encodes a ubiquitously expressed protein involved in the transcriptional coactivation of various transcription factors. CREBBP acts as a scaffold to stabilise additional protein interactions with the transcription complex; it has intrinsic histone acetyltransferase activity, and acetylates both histone and non-histone proteins.
Molecular pathology
CREBBP mutations cause Rubinstein-Taybi syndrome (RTS); chromosomal translocations of CREBBP are associated with acute myeloid leukaemia.

Rubinstein,

Jack Herbert, U.S. child psychiatrist and pediatrician, 1925–. Rubinstein-Taybi syndrome - mental retardation, facial deformities, and cardiac anomaly.

Taybi,

Hooshang, U.S. pediatrician and radiologist, 1919–. Rubinstein-Taybi syndrome - see under RubinsteinTaybi syndrome

单词	rubinstein-taybi syndrome
释义	Rubinstein-Taybi syndrome Ru·bin·stein-Tay·bi syn·drome (rū'bĭn-stīn tā'bē), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic chromosomal defect may be causative, but evidence suggests that this syndrome is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein on chromosome 16p. CREBBP A gene on chromosome 16p13.3 that encodes a ubiquitously expressed protein involved in the transcriptional coactivation of various transcription factors. CREBBP acts as a scaffold to stabilise additional protein interactions with the transcription complex; it has intrinsic histone acetyltransferase activity, and acetylates both histone and non-histone proteins. Molecular pathology CREBBP mutations cause Rubinstein-Taybi syndrome (RTS); chromosomal translocations of CREBBP are associated with acute myeloid leukaemia. Rubinstein, Jack Herbert, U.S. child psychiatrist and pediatrician, 1925–. Rubinstein-Taybi syndrome - mental retardation, facial deformities, and cardiac anomaly. Taybi, Hooshang, U.S. pediatrician and radiologist, 1919–. Rubinstein-Taybi syndrome - see under RubinsteinTaybi syndrome AcronymsSeeraise the stakes
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