MED12 mutations in human diseases

scientific article published on September 1, 2013

MED12 mutations in human diseases is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S13238-013-3048-3
P953full work available at URLhttp://link.springer.com/article/10.1007/s13238-013-3048-3/fulltext.html
http://link.springer.com/content/pdf/10.1007/s13238-013-3048-3
http://link.springer.com/content/pdf/10.1007/s13238-013-3048-3.pdf
https://academic.oup.com/proteincell/article-pdf/4/9/643/47612365/13238_2013_article_3048.pdf
https://doi.org/10.1007/s13238-013-3048-3
https://europepmc.org/articles/PMC4875528
https://europepmc.org/articles/PMC4875528?pdf=render
P932PMC publication ID4875528
P698PubMed publication ID23836153

P2093author name stringJun Ye
Hua Wang
Qin Shen
Li-Hua Ye
P2860cites workLujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)Q21203044
Global cancer statisticsQ22241238
MED12 controls the response to multiple cancer drugs through regulation of TGF-β receptor signalingQ24304423
The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediatorQ24320150
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancerQ24616117
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancerQ27860985
Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzeesQ28207775
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).Q33589177
Uterine fibroids.Q34159464
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.Q34207831
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomasQ34210977
Activating RNAs associate with Mediator to enhance chromatin architecture and transcriptionQ34328232
MED12 alterations in both human benign and malignant uterine soft tissue tumorsQ34328530
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.Q34346846
A Novel Human Prostate-Specific, Androgen-Regulated Homeobox Gene (NKX3.1) That Maps to 8p21, a Region Frequently Deleted in Prostate CancerQ34432863
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeQ34576763
A subunit of the mediator complex regulates vertebrate neuronal developmentQ34579817
Genetic heterogeneity among uterine leiomyomata: insights into malignant progressionQ34646565
Incidence, aetiology and epidemiology of uterine fibroidsQ34785038
The cyclin-dependent kinase 8 module sterically blocks Mediator interactions with RNA polymerase II.Q35127464
MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.Q35764426
Comparative genomics supports a deep evolutionary origin for the large, four-module transcriptional mediator complexQ36777813
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardationQ36975019
Manipulation of androgens and alterations in the androgen receptor axis in prostate cancer.Q37144055
The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulationQ37799722
Behavioral features in young adults with FG syndrome (Opitz–Kaveggia syndrome)Q37803584
Complex networks of multiple factors in the pathogenesis of uterine leiomyomaQ38096128
Role for Med12 in regulation of Nanog and Nanog target genesQ39911806
The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator functionQ42082510
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneQ43232391
Overtreatment of men with low-risk prostate cancer and significant comorbidityQ46832308
Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumorsQ47855828
The incidence of uterine leiomyoma and other pelvic ultrasonographic findings in 2,034 consecutive women in a north London hospitalQ51695250
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneQ51947227
Mediator is a transducer of Wnt/beta-catenin signalingQ52569557
Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardationQ56001488
MED12 mutations in uterine fibroids—their relationship to cytogenetic subgroupsQ83186481
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)643-646
P577publication date2013-07-08
2013-09-01
P1433published inProtein & CellQ26854012
P1476titleMED12 mutations in human diseases
P478volume4

Reverse relations

cites work (P2860)
Q95933719Fibroepithelial lesions revisited: implications for diagnosis and management
Q41712515MED12 is frequently mutated in breast phyllodes tumours: a study of 112 cases
Q33852886Recent Advances in Uterine Fibroid Etiology
Q48530618Systematic Gene-to-Phenotype Arrays: A High-Throughput Technique for Molecular Phenotyping

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