ReviewMolecular syndromology2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Dental and Dentofacial Findings in a Child With CHOPS Syndrome Managed Under General Anesthesia.International journal of paediatric dentistry · 2026Article
- Article
- ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.Brain : a journal of neurology · 2024Article
- Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.Journal of clinical medicine · 2024Review
- Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.Journal of pediatric genetics · 2024Article
- A hybrid approach for predicting transcription factors.Frontiers in bioinformatics · 2024Article
- An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.Frontiers in genetics · 2024Article
- GID complex regulates the differentiation of neural stem cells by destabilizing TET2.Frontiers of medicine · 2023Article
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.American journal of medical genetics. Part A · 2023Article
- Novel enhancer mediates theFrontiers in genetics · 2023Article
- Cornelia de Lange syndrome and cancer: An open question.American journal of medical genetics. Part A · 2023Article
- Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.Human molecular genetics · 2022Article
- The multifaceted roles of cohesin in cancer.Journal of experimental & clinical cancer research : CR · 2022Review
- Structural Characterization of the Interaction of Hypoxia Inducible Factor-1 with Its Hypoxia Responsive Element at the -964G > A Variation Site of theInternational journal of molecular sciences · 2021Article
- Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.American journal of human genetics · 2021Article
- Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.Molecular syndromology · 2021Article
- Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.Journal of structural biology · 2021Article
- Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.International journal of molecular sciences · 2021Review
- BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.Frontiers in molecular biosciences · 2021Review
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1 author.
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Abstract
Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed.
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