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Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.Brain Dev. 2016 May;38(5):498-506. doi: 10.1016/j.braindev.2015.11.006. Epub 2015 Dec 10.
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Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.Nat Genet. 2010 Sep;42(9):755-8. doi: 10.1038/ng.638. Epub 2010 Aug 1.
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Overexpression of Kinesin Superfamily Motor Proteins in Alzheimer's Disease.J Alzheimers Dis. 2017;60(4):1511-1524. doi: 10.3233/JAD-170094.
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Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".Orphanet J Rare Dis. 2018 Oct 4;13(1):177. doi: 10.1186/s13023-018-0917-0.
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Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.Neuromuscul Disord. 2011 Feb;21(2):129-31. doi: 10.1016/j.nmd.2010.09.009. Epub 2010 Oct 14.
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
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Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5.
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PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15.
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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.Hum Mutat. 1999;13(1):11-28. doi: 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A.
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Characterization of Charcot-Marie-Tooth optic neuropathy.J Neurol. 2017 Dec;264(12):2431-2435. doi: 10.1007/s00415-017-8645-2. Epub 2017 Oct 23.
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A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.Arch Neurol. 1999 Oct;56(10):1283-8. doi: 10.1001/archneur.56.10.1283.
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Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.J Neurol. 2010 Oct;257(10):1661-8. doi: 10.1007/s00415-010-5590-8. Epub 2010 May 12.
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Expression and functional role of miR-29b in renal cell carcinoma.Int J Clin Exp Pathol. 2015 Nov 1;8(11):14161-70. eCollection 2015.
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Polymorphisms in the kinesin-like factor 1 B gene and risk of epithelial ovarian cancer in Eastern Chinese women.Tumour Biol. 2015 Sep;36(9):6919-27. doi: 10.1007/s13277-015-3394-2. Epub 2015 Apr 9.
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Leptin-mediated regulation of MT1-MMP localization is KIF1B dependent and enhances gastric cancer cell invasion.Carcinogenesis. 2013 May;34(5):974-83. doi: 10.1093/carcin/bgt028. Epub 2013 Jan 25.
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KIF1B promotes glioma migration and invasion via cell surface localization of MT1-MMP.Oncol Rep. 2016 Feb;35(2):971-7. doi: 10.3892/or.2015.4426. Epub 2015 Nov 16.
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Role of single nucleotide polymorphisms of KIF1B gene in HBV-associated viral hepatitis.PLoS One. 2012;7(9):e45128. doi: 10.1371/journal.pone.0045128. Epub 2012 Sep 18.
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Replication of genome wide association studies on hepatocellular carcinoma susceptibility loci in a Chinese population.PLoS One. 2013 Oct 28;8(10):e77315. doi: 10.1371/journal.pone.0077315. eCollection 2013.
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Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).J Neurol Sci. 2009 Jun 15;281(1-2):113-5. doi: 10.1016/j.jns.2009.03.008. Epub 2009 Apr 3.
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A network biology approach to unraveling inherited axonopathies.Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z.
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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24.
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The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.
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Expanding the spectrum of genes responsible for hereditary motor neuropathies.J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5.
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Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2328-2337. doi: 10.1073/pnas.1810932116. Epub 2019 Jan 18.
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Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.Neuropathology. 2018 Oct;38(5):463-467. doi: 10.1111/neup.12487. Epub 2018 Jul 16.
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Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.Curr Mol Med. 2011 Nov;11(8):650-65. doi: 10.2174/156652411797536714.
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KLP-PI: a new prognostic index for luminal B HER-2-negative breast cancer.Hum Cell. 2019 Apr;32(2):172-184. doi: 10.1007/s13577-018-00229-x. Epub 2018 Dec 17.
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Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.Clin Chim Acta. 2015 Dec 7;451(Pt B):263-70. doi: 10.1016/j.cca.2015.10.007. Epub 2015 Oct 8.
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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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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22.
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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 1;105(5):587-97. doi: 10.1016/s0092-8674(01)00363-4.
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Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.J Neurol Sci. 2001 Feb 15;184(1):1-9. doi: 10.1016/s0022-510x(00)00497-4.
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027.
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Reduced axonal motor protein expression in non-lesional grey matter in multiple sclerosis.Mult Scler. 2014 Jun;20(7):812-21. doi: 10.1177/1352458513508836. Epub 2013 Oct 21.
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A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2.Ital J Pediatr. 2016 Mar 8;42:28. doi: 10.1186/s13052-016-0237-8.
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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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Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
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Identification of biomarkers for the initiation of apoptosis in human preneoplastic colonocytes by proteome analysis. Int J Cancer. 2004 Mar 20;109(2):220-9. doi: 10.1002/ijc.11692.
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Effects of 1alpha,25 dihydroxyvitamin D3 and testosterone on miRNA and mRNA expression in LNCaP cells. Mol Cancer. 2011 May 18;10:58.
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Global gene expression analysis reveals differences in cellular responses to hydroxyl- and superoxide anion radical-induced oxidative stress in caco-2 cells. Toxicol Sci. 2010 Apr;114(2):193-203. doi: 10.1093/toxsci/kfp309. Epub 2009 Dec 31.
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Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
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Selenium and vitamin E: cell type- and intervention-specific tissue effects in prostate cancer. J Natl Cancer Inst. 2009 Mar 4;101(5):306-20.
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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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Inhibition of BRD4 attenuates tumor cell self-renewal and suppresses stem cell signaling in MYC driven medulloblastoma. Oncotarget. 2014 May 15;5(9):2355-71.
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Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
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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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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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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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Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.
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Transcriptional profiling of lactic acid treated reconstructed human epidermis reveals pathways underlying stinging and itch. Toxicol In Vitro. 2019 Jun;57:164-173.
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Gene expression profiling of 30 cancer cell lines predicts resistance towards 11 anticancer drugs at clinically achieved concentrations. Int J Cancer. 2006 Apr 1;118(7):1699-712. doi: 10.1002/ijc.21570.
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