Microdeletions and mutations of CREBBP (CBP) gene can cause
Por um escritor misterioso
Last updated 24 março 2025


Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Targeted degradation of the enhancer lysine acetyltransferases CBP and p300 - ScienceDirect

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

CBP deficiency leads to HMT-mediated epigenetic modification. Induction

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration, Acta Neuropathologica Communications

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

Frontiers Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

Differences in Specificity and Selectivity Between CBP and p300 Acetylation of Histone H3 and H3/H4

CREBBP (CREB binding protein)
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