{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["van der Laan L"],"funding":["London Health Sciences Molecular Diagnostics Development Fund","Genome Canada Genomic Applications Partnership Program"],"pagination":["13664"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9690904"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(22)"],"pubmed_abstract":["Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the <i>TRIP12</i> (Thyroid Hormone Receptor Interactor 12) gene. <i>TRIP12</i> encodes an E3 ligase in the ubiquitin pathway. The ubiquitin pathway includes activating E1, conjugating E2 and ligating E3 enzymes which regulate the breakdown and sorting of proteins. This enzymatic pathway is crucial for physiological processes. A significant proportion of <i>TRIP12</i> variants are currently classified as variants of unknown significance (VUS). Episignatures have been shown to represent a powerful diagnostic tool to resolve inconclusive genetic findings for Mendelian disorders and to re-classify VUSs. Here, we show the results of DNA methylation episignature analysis in 32 "],"journal":["International journal of molecular sciences"],"pubmed_title":["Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome."],"pmcid":["PMC9690904"],"funding_grant_id":["NA"],"pubmed_authors":["Rooney K","Relator R","Keren B","McConkey H","Mannens MMAM","van der Laan L","Alders M","Santos-Simarro F","Legius E","Vissers LELM","Denomme-Pichon AS","Wieczorek D","Bramswig NC","Sadikovic B","Misra-Isrie M","Francannet C","van Haelst MM","Maillard PY","Tedder ML","Ruivenkamp C","Gonzalez VL","Lauffer P","Theunis M","Koene S","Torring PM","Isidor B","Levy MA","Aerden M","Herget T","Hoffer MJV","Kerkhof J","Julia S","Van Esch H","Schaefer E","Henneman P"],"additional_accession":[]},"is_claimable":false,"name":"Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser Syndrome.","description":"Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the <i>TRIP12</i> (Thyroid Hormone Receptor Interactor 12) gene. <i>TRIP12</i> encodes an E3 ligase in the ubiquitin pathway. The ubiquitin pathway includes activating E1, conjugating E2 and ligating E3 enzymes which regulate the breakdown and sorting of proteins. This enzymatic pathway is crucial for physiological processes. A significant proportion of <i>TRIP12</i> variants are currently classified as variants of unknown significance (VUS). Episignatures have been shown to represent a powerful diagnostic tool to resolve inconclusive genetic findings for Mendelian disorders and to re-classify VUSs. Here, we show the results of DNA methylation episignature analysis in 32 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-05-14T03:09:09.462Z","creation":"2024-11-21T07:32:44.807Z"},"accession":"S-EPMC9690904","cross_references":{"pubmed":["36430143"],"doi":["10.3390/ijms232213664"]}}