PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 05 abril 2025


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

Cancers, Free Full-Text

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome

Histone acetyltransferases CBP/p300 in tumorigenesis and CBP/p300 inhibitors as promising novel anticancer agents

Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

PDF) Variant biomarker discovery using mass spectrometry-based proteogenomics

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

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

Cancers, Free Full-Text

KAT3-dependent acetylation of cell type-specific genes maintains neuronal identity in the adult mouse brain
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