The omics era: a nexus of untapped potential for Mendelian chromatinopathies

The OMICs cascade describes the hierarchical flow of information through biological systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and protein expression of the human genome and governs cellular identity and function. Genes that regulate the epigenome, termed epig...

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Veröffentlicht in:	Human genetics 2024-04, Vol.143 (4), p.475-495
Hauptverfasser:	Nava, Aileen A., Arboleda, Valerie A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Cell division Chromatin - genetics Chromatin - metabolism Chromatinopathies Developmental disabilities DNA methylation Enzymes Epigenesis, Genetic Epigenetics Epigenomics - methods Gene expression Gene Function Genetics Genomes Genotype & phenotype Germ-Line Mutation Human Genetics Humans Intellectual disabilities Medicine Metabolic Diseases Molecular biology Molecular Medicine Mutation Next-generation sequencing Pathogenesis Proteins Proteomics Proteomics - methods Review Ribonucleic acid RNA Stem cells
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