Associated Papers
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
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
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
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
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
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, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Mäkinen N 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