Chromosomal translocations affecting the p300 and Cbp genes are the cause of hematological malignancies, and Cbp haploinsufficiency is a hallmark of the Rubinstein-Taybi syndrome.
Chromosomal translocations affecting the p300 and Cbp genes are the cause of hematological malignancies, and Cbp haploinsufficiency is a hallmark of the Rubinstein-Taybi syndrome.
Chromosomal translocations affecting the p300 and Cbp genes are the cause of hematological malignancies, and Cbp haploinsufficiency is a hallmark of the Rubinstein-Taybi syndrome.
Chromosomal translocations affecting the p300 and Cbp genes are the cause of hematological malignancies, and Cbp haploinsufficiency is a hallmark of the Rubinstein-Taybi syndrome.
Mice carrying a truncated form of cAMP-responsive element binding protein (CREB)-binding protein (CBP) show several developmental abnormalities similar to patients with Rubinstein-Taybi syndrome (RTS).
Mice carrying a truncated form of cAMP-responsive element binding protein (CREB)-binding protein (CBP) show several developmental abnormalities similar to patients with Rubinstein-Taybi syndrome (RTS).
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
We screened the entire CREB-binding protein gene (CBP) for mutations in patients with RSTS by using methods that find point mutations and larger rearrangements.
Previous studies have identified cytogenetic deletions in the CREBBP gene in eight to 12% of patients and very recently, Roelfsema et al. reported EP300 gene mutations in three of 92 (3.3%) patients with either true RSTS or different syndromes resembling RSTS.