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2020 1
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Page 1
Impact of ambient air pollution on colorectal cancer risk and survival: insights from a prospective cohort and epigenetic Mendelian randomization study.
Jiang F, Zhao J, Sun J, Chen W, Zhao Y, Zhou S, Yuan S, Timofeeva M, Law PJ, Larsson SC, Chen D, Houlston RS, Dunlop MG, Theodoratou E, Li X. Jiang F, et al. EBioMedicine. 2024 May;103:105126. doi: 10.1016/j.ebiom.2024.105126. Epub 2024 Apr 16. EBioMedicine. 2024. PMID: 38631091 Free PMC article.
Genetically predicted methylation at PM(2.5)-related CpG site cg13835894 near TMBIM1/PNKD and cg16235962 near CXCR5, and NO(2)-related cg16947394 near TMEM110 were associated with an increased CRC risk. ...INTERPRETATION: Our study suggests the association between air poll …
Genetically predicted methylation at PM(2.5)-related CpG site cg13835894 near TMBIM1/PNKD and cg16235962 near CXCR5, and NO(2)-relate …
A causal relationship between sarcopenia and cognitive impairment: A Mendelian randomization study.
Liu H, Fan Y, Liang J, Hu A, Chen W, Wang H, Fan Y, Li M, Duan J, Wang Q. Liu H, et al. PLoS One. 2024 Sep 6;19(9):e0309124. doi: 10.1371/journal.pone.0309124. eCollection 2024. PLoS One. 2024. PMID: 39240885 Free PMC article.
Cognitive function was not causally related to low grip strength (beta = -0.024; 95% CI: -0.073-0.025, P = 0.344). Multivariable MR1 (MVMR1) analyses showed a significant causal relationship for ALM (beta = 0.077; 95% CI: 0.044-0.109, P = 0.000) and walking pace (beta = 0. …
Cognitive function was not causally related to low grip strength (beta = -0.024; 95% CI: -0.073-0.025, P = 0.344). Multivariable MR1 …
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH. Wu MC, et al. J Mol Diagn. 2022 Mar;24(3):262-273. doi: 10.1016/j.jmoldx.2021.12.003. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041927 Free article.
The most common causative genes were SGCE followed by GCH1, TH, CACNA1B, PRRT2, MR1, CIZ1, PLA2G6, and PRKN. Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C19orf12, and SPG11. ...
The most common causative genes were SGCE followed by GCH1, TH, CACNA1B, PRRT2, MR1, CIZ1, PLA2G6, and PRKN. Genetic causes were iden …
Transcatheter Edge-to-Edge Repair for Atrial and Ventricular Secondary Mitral Regurgitation: Insights From the REPAIR Study.
von Stein P, Stolz L, Haurand JM, Gröger M, Rudolph F, Mustafa D, Jobst J, Mues CA, Mahabadi AA, Hoerbrand IA, Schulz C, Sugiura A, von Stein J, Iliadis C, Lurz P, Gerçek M, Horn P, Kessler M, Ascione G, Rassaf T, Weber M, Schofer N, Konstandin M, Schindhelm F, Möllmann H, Unsöld B, Guthoff H, Baldus S, Rottbauer W, Rudolph V, Granada JF, Hausleiter J, Pfister R, Mauri V; REPAIR Investigators. von Stein P, et al. JACC Cardiovasc Interv. 2025 Aug 25;18(16):2020-2032. doi: 10.1016/j.jcin.2025.05.031. Epub 2025 Jun 25. JACC Cardiovasc Interv. 2025. PMID: 40560108 Free article.
METHODS: REPAIR (REgistry of PAscal for mItral Regurgitation) is an investigator-initiated, multicenter registry of patients undergoing M-TEER. aSMR was defined by left atrial dilation with preserved left ventricular size and ejection fraction. Outcomes included MR 1 …
METHODS: REPAIR (REgistry of PAscal for mItral Regurgitation) is an investigator-initiated, multicenter registry of patients undergoing M-TE …
Identification of susceptibility loci and relevant cell type for IgA nephropathy in Han Chinese by integrative genome-wide analysis.
Li M, Hao X, Shi D, Cheng S, Zhong Z, Cai L, Jiang M, Ding L, Ding L, Wang C, Yu X. Li M, et al. Front Med. 2024 Oct;18(5):862-877. doi: 10.1007/s11684-024-1086-2. Epub 2024 Sep 30. Front Med. 2024. PMID: 39343836
Furthermore, we identified six more novel loci associated with IgAN, which included three loci showing pleiotropic effects with IBD or asthma (2q35/PNKD, 6q25.2/SCAF8, and 22q11.21/UBE2L3) and three loci specific to IgAN (14q32.32/TRAF3, 16q22.2/TXNL4B, and 21q21.3/LINC001 …
Furthermore, we identified six more novel loci associated with IgAN, which included three loci showing pleiotropic effects with IBD or asthm …
Micronucleus assay for predicting coronary artery disease: A systematic review and meta-analysis.
Andreassi MG, Borghini A, Vecoli C. Andreassi MG, et al. Mutat Res Rev Mutat Res. 2021 Jan-Jun;787:108348. doi: 10.1016/j.mrrev.2020.108348. Epub 2020 Nov 16. Mutat Res Rev Mutat Res. 2021. PMID: 34083055

Despite a large heterogeneity between studies (I(2)= 99.7 %, p < 0.0001), an overall increase of MN frequencies was found in patients with CAD compared with control group (meta-MR = 1.96; 95 % CI, 1.5-3.2, p = 0.009). A subgroup analysis showed an increase in the

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Despite a large heterogeneity between studies (I(2)= 99.7 %, p < 0.0001), an overall increase of MN frequencies was found in patients wit

…
Retinal Aging Transcriptome and Cellular Landscape in Association With the Progression of Age-Related Macular Degeneration.
Wang JH, Wong RCB, Liu GS. Wang JH, et al. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):32. doi: 10.1167/iovs.64.4.32. Invest Ophthalmol Vis Sci. 2023. PMID: 37099020 Free PMC article.
Several genes associated with both age and AMD severity, particularly C1s and MR1, are strong positively correlated with the proportions of Muller glia. CONCLUSIONS: Our studies expand the genetic and cellular landscape of AMD and provide avenues for further studies on the …
Several genes associated with both age and AMD severity, particularly C1s and MR1, are strong positively correlated with the proporti …
Identification and Phenotype of MAIT Cells in Cattle and Their Response to Bacterial Infections.
Edmans MD, Connelley TK, Jayaraman S, Vrettou C, Vordermeier M, Mak JYW, Liu L, Fairlie DP, Maze EA, Chrun T, Klenerman P, Eckle SBG, Tchilian E, Benedictus L. Edmans MD, et al. Front Immunol. 2021 Mar 11;12:627173. doi: 10.3389/fimmu.2021.627173. eCollection 2021. Front Immunol. 2021. PMID: 33777010 Free PMC article.
Mucosal-associated invariant T (MAIT) cells are a population of innate-like T cells that utilize a semi-invariant T cell receptor (TCR) alpha chain and are restricted by the highly conserved antigen presenting molecule MR1. MR1 presents microbial riboflavin biosynth …
Mucosal-associated invariant T (MAIT) cells are a population of innate-like T cells that utilize a semi-invariant T cell receptor (TCR) alph …
Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.
Tian M, Chen J, Li J, Pan H, Lei W, Shu X. Tian M, et al. BMC Pediatr. 2022 Apr 25;22(1):222. doi: 10.1186/s12887-022-03246-w. BMC Pediatr. 2022. PMID: 35468813 Free PMC article.
However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported a patient with PIGN mutation leading to developmental and epileptic encephalopathy and PNKD, to expand upon the genotype-phenotype …
However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reporte …
Runx3 is required for oncogenic Myc upregulation in p53-deficient osteosarcoma.
Otani S, Date Y, Ueno T, Ito T, Kajikawa S, Omori K, Taniuchi I, Umeda M, Komori T, Toguchida J, Ito K. Otani S, et al. Oncogene. 2022 Jan;41(5):683-691. doi: 10.1038/s41388-021-02120-w. Epub 2021 Nov 22. Oncogene. 2022. PMID: 34803166
Myc was aberrantly upregulated by Runx3 via mR1, a consensus Runx site in the Myc promoter, in a manner dependent on p53 deficiency. Reduction of the Myc level by disruption of mR1 or Runx3 knockdown decreased the tumorigenicity of p53-deficient OS cells and effecti …
Myc was aberrantly upregulated by Runx3 via mR1, a consensus Runx site in the Myc promoter, in a manner dependent on p53 deficiency. …
25 results