Article

Polycomb-associated and Trithorax-associated developmental conditions – phenotypic convergence and heterogeneity

2024-07-12

Abstract excerpt

Polycomb group (PcG) and Trithorax group (TrxG) complexes represent two major components of the epigenetic machinery. This study aimed to delineate phenotypic similarities and differences across developmental conditions arising from rare variants in PcG and TrxG genes, using data-driven approaches. 462 patients with a PcG or TrxG-associated condition were identified in the DECIPHER dataset. We analysed Human Pheno...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1073f818-7cdf-5d72-935f-a9d60968d3db
DOI: 10.1101/2024.07.12.24310328

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Polycomb-associated and Trithorax-associated developmental conditions – phenotypic convergence and heterogeneityDOI 10.1101/2024.07.12.24310328Read

Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.Semantic proximity Read

Distinct genetic architecture and multiple omics features between non-syndromic cleft lip only and non-syndromic cleft lip with cleft palateSemantic proximity Read

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in HoloprosencephalySemantic proximity Read

Fifty years of recognizable patterns of human malformation: Insights and opportunities.Semantic proximity Read

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseasesSemantic proximity Read

Phenotypic spectrum of dual diagnoses in developmental disorders.Semantic proximity Read

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical careSemantic proximity Read

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSemantic proximity Read

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathwaysSemantic proximity Read

From genetics to epigenetics: the tale of Polycomb group and trithorax group genes.Semantic proximity Read

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Semantic proximity Read

Phenome connections.Semantic proximity Read