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Methylation level of CpG islands in GGH gene promoter in pediatric acute leukemia.PLoS One. 2017 Mar 9;12(3):e0173472. doi: 10.1371/journal.pone.0173472. eCollection 2017.
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Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.J Neurol. 2016 Aug;263(8):1503-10. doi: 10.1007/s00415-016-8148-6. Epub 2016 May 13.
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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrl.2019.01.004. Epub 2019 May 15.
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Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.Neuromuscul Disord. 2017 Nov;27(11):1018-1022. doi: 10.1016/j.nmd.2017.06.558. Epub 2017 Jul 6.
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Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development.Oncotarget. 2019 Mar 5;10(19):1760-1774. doi: 10.18632/oncotarget.26678. eCollection 2019 Mar 5.
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DNA methylation changes at TREM2 intron 1 and TREM2 mRNA expression in patients with Alzheimer's disease.J Psychiatr Res. 2017 Sep;92:74-80. doi: 10.1016/j.jpsychires.2017.04.003. Epub 2017 Apr 11.
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Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.
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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.Lancet. 2013 Apr 20;381(9875):1371-1379. doi: 10.1016/S0140-6736(12)62129-1. Epub 2013 Feb 28.
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Convergence of mutation and epigenetic alterations identifies common genes in cancer that predict for poor prognosis.PLoS Med. 2008 May 27;5(5):e114. doi: 10.1371/journal.pmed.0050114.
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Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Parkinsonism Relat Disord. 2019 Jan;58:74-78. doi: 10.1016/j.parkreldis.2018.08.009. Epub 2018 Aug 13.
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Systematic search for rare variants in Finnish early-onset colorectal cancer patients.Cancer Genet. 2015 Jan-Feb;208(1-2):35-40. doi: 10.1016/j.cancergen.2014.12.004. Epub 2014 Dec 31.
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Expression and significance of phosphodiesterase 4B gene in peripheral blood of patients with oral lichen planus.Int J Dermatol. 2019 Mar;58(3):302-310. doi: 10.1111/ijd.14203. Epub 2018 Sep 19.
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Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease.Biochem Soc Trans. 2018 Apr 17;46(2):311-320. doi: 10.1042/BST20170149. Epub 2018 Feb 27.
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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26.
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Genome wide association for addiction: replicated results and comparisons of two analytic approaches.PLoS One. 2010 Jan 21;5(1):e8832. doi: 10.1371/journal.pone.0008832.
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Pleiotropic genes in psychiatry: Calcium channels and the stress-related FKBP5 gene in antidepressant resistance.Prog Neuropsychopharmacol Biol Psychiatry. 2018 Feb 2;81:203-210. doi: 10.1016/j.pnpbp.2017.10.005. Epub 2017 Oct 6.
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Engineering carboxypeptidase G2 circular permutations for the design of an autoinhibited enzyme.Protein Eng Des Sel. 2017 Apr 1;30(4):321-331. doi: 10.1093/protein/gzx005.
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Using prognosis to guide inclusion criteria, define standardised endpoints and stratify follow-up in active surveillance for prostate cancer.BJU Int. 2019 Nov;124(5):758-767. doi: 10.1111/bju.14800. Epub 2019 Jun 2.
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Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.Mol Psychiatry. 2021 Feb;26(2):508-523. doi: 10.1038/s41380-018-0314-z. Epub 2019 Jan 4.
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Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nat Commun. 2019 Oct 24;10(1):4857. doi: 10.1038/s41467-019-12536-4.
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Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nat Commun. 2017 May 24;8:15539. doi: 10.1038/ncomms15539.
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Downregulation of GLS2 in glioblastoma cells is related to DNA hypermethylation but not to the p53 status.Mol Carcinog. 2016 Sep;55(9):1309-16. doi: 10.1002/mc.22372. Epub 2015 Aug 10.
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MMP-9 overexpression is associated with intragenic hypermethylation of MMP9 gene in melanoma.Aging (Albany NY). 2016 May;8(5):933-44. doi: 10.18632/aging.100951.
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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. doi: 10.1093/hmg/ddm238. Epub 2007 Aug 29.
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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
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Genomic and epigenomic integration identifies a prognostic signature in colon cancer.Clin Cancer Res. 2011 Mar 15;17(6):1535-45. doi: 10.1158/1078-0432.CCR-10-2509. Epub 2011 Jan 28.
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Identification of new binding proteins of focal adhesion kinase using immunoprecipitation and mass spectrometry.Sci Rep. 2019 Sep 9;9(1):12908. doi: 10.1038/s41598-019-49145-6.
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SYNE1-ataxia: Novel genotypic and phenotypic findings.Parkinsonism Relat Disord. 2019 May;62:210-214. doi: 10.1016/j.parkreldis.2018.12.007. Epub 2018 Dec 11.
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ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: an Ovarian Cancer Association Consortium study.Cancer Epidemiol Biomarkers Prev. 2010 Jan;19(1):245-50. doi: 10.1158/1055-9965.EPI-09-0729.
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Elevated expression of cellular SYNE1, MMP10, and GTPase1 and their regulatory role in hepatocellular carcinoma progression.Protoplasma. 2020 Jan;257(1):157-167. doi: 10.1007/s00709-019-01423-w. Epub 2019 Aug 19.
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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11.
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The genomic landscape of nasopharyngeal carcinoma.Nat Genet. 2014 Aug;46(8):866-71.
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Human embryonic stem cell-derived test systems for developmental neurotoxicity: a transcriptomics approach. Arch Toxicol. 2013 Jan;87(1):123-43.
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Comparison of HepG2 and HepaRG by whole-genome gene expression analysis for the purpose of chemical hazard identification. Toxicol Sci. 2010 May;115(1):66-79.
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Phenotypic characterization of retinoic acid differentiated SH-SY5Y cells by transcriptional profiling. PLoS One. 2013 May 28;8(5):e63862.
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Gene expression analysis of precision-cut human liver slices indicates stable expression of ADME-Tox related genes. Toxicol Appl Pharmacol. 2011 May 15;253(1):57-69.
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Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
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17-Estradiol Activates HSF1 via MAPK Signaling in ER-Positive Breast Cancer Cells. Cancers (Basel). 2019 Oct 11;11(10):1533. doi: 10.3390/cancers11101533.
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Quantitative proteomics reveals a broad-spectrum antiviral property of ivermectin, benefiting for COVID-19 treatment. J Cell Physiol. 2021 Apr;236(4):2959-2975. doi: 10.1002/jcp.30055. Epub 2020 Sep 22.
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Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
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A transcriptome-based classifier to identify developmental toxicants by stem cell testing: design, validation and optimization for histone deacetylase inhibitors. Arch Toxicol. 2015 Sep;89(9):1599-618.
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DNA methylome-wide alterations associated with estrogen receptor-dependent effects of bisphenols in breast cancer. Clin Epigenetics. 2019 Oct 10;11(1):138. doi: 10.1186/s13148-019-0725-y.
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Identification of mechanisms of action of bisphenol a-induced human preadipocyte differentiation by transcriptional profiling. Obesity (Silver Spring). 2014 Nov;22(11):2333-43.
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A novel long noncoding RNA AK001796 acts as an oncogene and is involved in cell growth inhibition by resveratrol in lung cancer. Toxicol Appl Pharmacol. 2015 Jun 1;285(2):79-88.
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Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
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Bromodomain-containing protein 4 (BRD4) regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells. J Biol Chem. 2012 Dec 14;287(51):43137-55.
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Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
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From transient transcriptome responses to disturbed neurodevelopment: role of histone acetylation and methylation as epigenetic switch between reversible and irreversible drug effects. Arch Toxicol. 2014 Jul;88(7):1451-68.
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3-Nitrobenzanthrone promotes malignant transformation in human lung epithelial cells through the epiregulin-signaling pathway. Cell Biol Toxicol. 2022 Oct;38(5):865-887. doi: 10.1007/s10565-021-09612-1. Epub 2021 May 25.
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Gene expression network regulated by DNA methylation and microRNA during microcystin-leucine arginine induced malignant transformation in human hepatocyte L02 cells. Toxicol Lett. 2018 Jun 1;289:42-53. doi: 10.1016/j.toxlet.2018.03.003. Epub 2018 Mar 5.
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