Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Last updated 13 abril 2025


iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect

Cancers, Free Full-Text

Identification of USP9X as a leukemia susceptibility gene - ScienceDirect

P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma - ScienceDirect

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Exome sequencing study of 20 patients with high myopia [PeerJ]

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

The variants in SMC1A and SYCP2 identified in the patients with WDSTS

CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis

Cancers, Free Full-Text

Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300
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