Associated Papers
Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.
Zhang H et al.
Nature Communications, 2026
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 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
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
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
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Structure and noncanonical Cdk8 activation mechanism within an Argonaute-containing Mediator kinase module.
Li YC et al.
Science Advances, 2021
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Carss KJ et al.
Circulation. Genomic and Precision Medicine, 2020
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
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
Wang C et al.
Frontiers in Genetics, 2020
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Lahbib S et al.
Molecular Biology Reports, 2019
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
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
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A et al.
Pediatric Research, 2016
Two male sibs with severe micrognathia and a missense variant in MED12.
Prescott TE et al.
European Journal of Medical Genetics, 2016
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K et al.
American Journal of Medical Genetics. Part A, 2016
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
Casanova EL et al.
Molecular Autism, 2016
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG et al.
American Journal of Medical Genetics. Part A, 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
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
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Isidor B et al.
American Journal of Medical Genetics. Part A, 2014
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
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
Dieckmann PM et al.
Arquivos De Neuro-psiquiatria, 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
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
Mediator and human disease.
Spaeth JM et al.
Seminars in Cell & Developmental Biology, 2011
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
Hashimoto S et al.
Science (new York, N.y.), 2011
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
Rump P et al.
Clinical Genetics, 2011
Genetic and epigenetic networks in intellectual disabilities.
van Bokhoven H
Annual Review of Genetics, 2011
Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling.
Rocha PP et al.
Development (cambridge, England), 2010
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
Clark RD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
Becerra-Solano LE et al.
American Journal of Medical Genetics. Part A, 2009
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
Lyons MJ et al.
Journal of Medical Genetics, 2009
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
Ding N et al.
Molecular Cell, 2008
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE et al.
Journal of Medical Genetics, 2007