ArticleAmerican journal of medical genetics. Part A2015
MED23-associated intellectual disability in a non-consanguineous family.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- The Mediator Complex: From Transcriptional Regulation to Disease Pathogenesis.International journal of molecular sciences · 2026Review
- Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.Genes · 2025Review
- Central Med23 deficiency leads to malformation of dentate gyrus and ADHD-like behaviors in mice.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Article
- Global Co-regulatory Cross Talk Between mMolecular neurobiology · 2025Article
- Mediator MED23 controls oligodendrogenesis and myelination by modulating Sp1/P300-directed gene programs.Cell discovery · 2024Article
- Novel homozygous missense variants inHeliyon · 2024Article
- Article
- Response to a letter to the editor.Neurogenetics · 2023Article
- Exploring the Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology.International journal of molecular sciences · 2023Review
- Genetically Engineered Mice Unveil In Vivo Roles of the Mediator Complex.International journal of molecular sciences · 2023Review
- An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities.Nucleic acids research · 2023Article
- Case report: Novel compound heterozygosity for pathogenic variants inFrontiers in neurology · 2023Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network.PLoS genetics · 2021Article
- Stress-Induced Cyclin C Translocation Regulates Cardiac Mitochondrial Dynamics.Journal of the American Heart Association · 2020Article
- Mediator Med23 Regulates Adult Hippocampal Neurogenesis.Frontiers in cell and developmental biology · 2020Article
- Transcriptomic correlates of electrophysiological and morphological diversity within and across excitatory and inhibitory neuron classes.PLoS computational biology · 2019Article
- Novel mutation in theClinical case reports · 2019Article
- Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Frontiers in medicine · 2017Article
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A > G];[4006C > T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.