Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Kao EC et al.
American Journal of Medical Genetics. Part A, 2025
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
Togi S et al.
American Journal of Medical Genetics. Part A, 2024
Structural basis of the human transcriptional Mediator complex modulated by its dissociable Kinase module.
Chen SF et al.
Biorxiv : the Preprint Server for Biology, 2024
MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
Yang JH et al.
Seizure, 2024
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
Ghasemi S et al.
Bmc Medical Genomics, 2023
MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
Hamada N et al.
Journal of Neurochemistry, 2023
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N et al.
American Journal of Medical Genetics. Part A, 2023
XLID syndrome gene Med12 promotes Ig isotype switching through chromatin modification and enhancer RNA regulation.
Haque F et al.
Science Advances, 2022
Mediator recruits the cohesin loader Scc2 to RNA Pol II-transcribed genes and promotes sister chromatid cohesion.
Mattingly M et al.
Current Biology : Cb, 2022
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I et al.
Human Genetics, 2021
Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases.
Srivastava S et al.
Journal of Cellular Physiology, 2021
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV et al.
Genes, 2021
Structure and noncanonical Cdk8 activation mechanism within an Argonaute-containing Mediator kinase module.
Li YC et al.
Science Advances, 2021
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E et al.
European Journal of Medical Genetics, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Altered chromatin landscape and enhancer engagement underlie transcriptional dysregulation in MED12 mutant uterine leiomyomas.
Moyo MB et al.
Nature Communications, 2020
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Wang C et al.
Frontiers in Genetics, 2020
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E et al.
American Journal of Human Genetics, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
Srivastava S et al.
Molecular Genetics & Genomic Medicine, 2019
JMJD6 Licenses ERα-Dependent Enhancer and Coding Gene Activation by Modulating the Recruitment of the CARM1/MED12 Co-activator Complex.
Gao WW et al.
Molecular Cell, 2018
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Bennett JA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017
A novel variant in MED12 gene: Further delineation of phenotype.
Narayanan DL et al.
American Journal of Medical Genetics. Part A, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM et al.
Human Molecular Genetics, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M et al.
American Journal of Human Genetics, 2017
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A et al.
Pediatric Research, 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.
Izumi K
Molecular Syndromology, 2016
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.
Banaganapalli B et al.
Journal of Cellular Biochemistry, 2016
Two male sibs with severe micrognathia and a missense variant in MED12.
Prescott TE et al.
European Journal of Medical Genetics, 2016
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG et al.
American Journal of Medical Genetics. Part A, 2015
MED12 and uterine smooth muscle oncogenesis: State of the art and perspectives.
Croce S et al.
European Journal of Cancer (oxford, England : 1990), 2015
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi H et al.
Clinical Case Reports, 2015
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
Hunter JM et al.
American Journal of Medical Genetics. Part A, 2015
Mediator kinase module and human tumorigenesis.
Clark AD et al.
Critical Reviews in Biochemistry and Molecular Biology, 2015
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
Yamamoto T et al.
Human Genome Variation, 2015
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G et al.
American Journal of Medical Genetics. Part A, 2013
MED12 related disorders.
Graham JM et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT et al.
American Journal of Human Genetics, 2013
Activating RNAs associate with Mediator to enhance chromatin architecture and transcription.
Lai F et al.
Nature, 2013
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
Zhou H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
McGuire MM et al.
Plos One, 2012
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Mäkinen N et al.
Science (new York, N.y.), 2011