Associated Papers
The complex network of p300/CBP regulation: Interactions, posttranslational modifications, and therapeutic implications.
Yazıcı E et al.
The Journal of Biological Chemistry, 2025
Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.
Cieślikowska A et al.
Genes, 2025
Dysregulation of the p300/CBP histone acetyltransferases in human cancer.
Xu L et al.
Epigenomics, 2025
Neurodevelopmental functions and activities of the KAT3 class of lysine acetyltransferases.
Shahib AK et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2024
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.
Van Gils J et al.
Communications Biology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.
Shanahan RM et al.
Pediatric Neurosurgery, 2024
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.
Kim T et al.
Scientific Reports, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
The PHD finger of p300 influences its ability to acetylate histone and non-histone targets.
Rack JGM et al.
Journal of Molecular Biology, 2014
Epigenetic mechanisms of Rubinstein-Taybi syndrome.
Park E et al.
Neuromolecular Medicine, 2014
Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins.
Li J et al.
Journal of Neurodevelopmental Disorders, 2013
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N et al.
Journal of Biosciences, 2010
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O et al.
Sub-cellular Biochemistry, 2007
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
Kalkhoven E et al.
Human Molecular Genetics, 2003