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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Nizon M, et al. Genet Med. 2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. Genet Med. 2019. PMID: 31155615 Free PMC article.
PURPOSE: Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator c …
PURPOSE: Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase …
Genetic Determinants of Antibody-Mediated Immune Responses to Infectious Diseases Agents: A Genome-Wide and HLA Association Study.
Butler-Laporte G, Kreuzer D, Nakanishi T, Harroud A, Forgetta V, Richards JB. Butler-Laporte G, et al. Open Forum Infect Dis. 2020 Sep 24;7(11):ofaa450. doi: 10.1093/ofid/ofaa450. eCollection 2020 Nov. Open Forum Infect Dis. 2020. PMID: 33204752 Free PMC article.
Outside the MHC, we found a total of 60 loci, multiple associated with Epstein-Barr virus (EBV)-related NCDs (eg, RASA3, MED12L, and IRF4). FUT2 was also identified as an important gene for polyomaviridae. HLA analysis highlighted the importance of DRB1*09:01, DQB1*02:01, …
Outside the MHC, we found a total of 60 loci, multiple associated with Epstein-Barr virus (EBV)-related NCDs (eg, RASA3, MED12L, and …
Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population.
Wu K, Wang W, Cheng Q, Xiao D, Li Y, Chen M, Zheng X. Wu K, et al. Dermatology. 2024;240(4):606-614. doi: 10.1159/000538805. Epub 2024 May 10. Dermatology. 2024. PMID: 38735287
Then, haplotype analysis was performed for rare loss-of-function variants located in MED12L, and protein function prediction was performed for MED12L. Gene-based analysis at each stage had a moderate significance threshold (p < 0.05). ...RESULTS: Through thes …
Then, haplotype analysis was performed for rare loss-of-function variants located in MED12L, and protein function prediction was perf …
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Nizon M, et al. Genet Med. 2019 Nov;21(11):2663. doi: 10.1038/s41436-019-0590-2. Genet Med. 2019. PMID: 31267042 Free article.
Unraveling the genetic susceptibility of irritable bowel syndrome: integrative genome-wide analyses in 845 492 individuals: a diagnostic study.
Huang W, Zhang L, Ma Y, Yu S, Lyu Y, Tong S, Wang J, Jiang R, Meng M, Wu Y, Luo R, Qiu X, Sha W, Chen H. Huang W, et al. Int J Surg. 2025 Jan 1;111(1):210-220. doi: 10.1097/JS9.0000000000002039. Int J Surg. 2025. PMID: 39166955 Free PMC article.
Multiple methods identified nine promising IBS candidate gene ( PRRC2A, COP1, CADM2, LRP1B, SUGT1, MED12L, P2RY14, PHF2, SHISA6 ) at 10 GWAS loci. Transcriptome validation also revealed differential expression of these genes. ...
Multiple methods identified nine promising IBS candidate gene ( PRRC2A, COP1, CADM2, LRP1B, SUGT1, MED12L, P2RY14, PHF2, SHISA6 ) at …
Understanding Obesity as a Risk Factor for Uterine Tumors Using Drosophila.
Li X, Liu M, Ji JY. Li X, et al. Adv Exp Med Biol. 2019;1167:129-155. doi: 10.1007/978-3-030-23629-8_8. Adv Exp Med Biol. 2019. PMID: 31520353 Review.
Given that obesity has been consistently identified as a major risk factor for uterine tumors, the most common malignancies of the female reproductive system, we use uterine tumors as a pathological context to survey the relevant literature and propose a novel hypothesis: chronic …
Given that obesity has been consistently identified as a major risk factor for uterine tumors, the most common malignancies of the female re …
A Novel Prognostic Risk-Scoring Model Based on RAS Gene-Associated Cluster in Pediatric Acute Myeloid Leukemia.
Luo CJ, Abudukeremu Y, Rao ML, Zhou DH, Fang JP, Li Y, Xu LH. Luo CJ, et al. Cancer Med. 2025 Mar;14(5):e70716. doi: 10.1002/cam4.70716. Cancer Med. 2025. PMID: 40062727 Free PMC article.
The experimental results demonstrated significantly elevated expression levels of GCSAML, MED12L, and TCF4 in AML samples compared to normal samples. CONCLUSION: The developed prognostic risk-scoring model, along with the identified key risk genes, holds promise as candida …
The experimental results demonstrated significantly elevated expression levels of GCSAML, MED12L, and TCF4 in AML samples compared to …
DNA methylation signatures associated with prognosis of gastric cancer.
Dai J, Nishi A, Li ZX, Zhang Y, Zhou T, You WC, Li WQ, Pan KF. Dai J, et al. BMC Cancer. 2021 May 25;21(1):610. doi: 10.1186/s12885-021-08389-0. BMC Cancer. 2021. PMID: 34034702 Free PMC article.
RESULTS: We newly identified DNA methylation of seven CpGs significantly associated with OS, DSS, and PFI of GC, including cg10399824 (GRK5), cg05275153 (RGS12), cg24406668 (MMP9), cg14719951(DSC3), and cg25117092 (MED12L), and two in intergenic regions (cg11348188 and cg1 …
RESULTS: We newly identified DNA methylation of seven CpGs significantly associated with OS, DSS, and PFI of GC, including cg10399824 (GRK5) …
24 results