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Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model.Hum Mol Genet. 2009 Oct 15;18(20):3906-13. doi: 10.1093/hmg/ddp333. Epub 2009 Jul 21.
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Mutations of the Wilms tumor 1 gene (WT1) in older patients with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.Blood. 2010 Aug 5;116(5):788-92. doi: 10.1182/blood-2010-01-262543. Epub 2010 May 4.
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Molecular mechanisms underlying gliomas and glioblastoma pathogenesis revealed by bioinformatics analysis of microarray data.Med Oncol. 2017 Sep 26;34(11):182. doi: 10.1007/s12032-017-1043-x.
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Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumors.PLoS One. 2011;6(7):e21332. doi: 10.1371/journal.pone.0021332. Epub 2011 Jul 5.
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The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?.Neuroscientist. 2018 Feb;24(1):54-72. doi: 10.1177/1073858417705059. Epub 2017 May 1.
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Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease.Neurology. 1998 Sep;51(3):878-9. doi: 10.1212/wnl.51.3.878.
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SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA.Mol Cell Neurosci. 2012 Mar;49(3):282-9. doi: 10.1016/j.mcn.2011.12.003. Epub 2011 Dec 16.
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Molecular cytogenetic parameters in fibroblasts of ataxia telangiectasia carrier.Cancer Genet Cytogenet. 2004 Sep;153(2):102-7. doi: 10.1016/j.cancergencyto.2003.12.009.
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Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.
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The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1.Sci Rep. 2016 Jul 19;6:29878. doi: 10.1038/srep29878.
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The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.J Med Genet. 2006 Dec;43(12):902-7. doi: 10.1136/jmg.2006.042135. Epub 2006 Jul 6.
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A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.Nucleic Acids Res. 2007;35(21):e144. doi: 10.1093/nar/gkm984. Epub 2007 Nov 12.
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SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.J Med Genet. 1997 Jun;34(6):507-8. doi: 10.1136/jmg.34.6.507.
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Mining Featured Biomarkers Linked with Epithelial Ovarian CancerBased on Bioinformatics.Diagnostics (Basel). 2019 Apr 9;9(2):39. doi: 10.3390/diagnostics9020039.
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The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein.Brain Res Mol Brain Res. 2003 Nov 6;119(1):37-49. doi: 10.1016/j.molbrainres.2003.08.011.
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Maintenance of imprinting of the insulin-like growth factor II gene (IGF2) and the small nuclear ribonucleoprotein polypeptide N gene (SNRPN) in the human uterus and leiomyoma.Gynecol Obstet Invest. 1996;41(1):50-4. doi: 10.1159/000292036.
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Novel Epigenomic Biomarkers of Male Infertility Identified by Methylation Patterns of CpG Sites Within Imprinting Control Regions of H19 and SNRPN Genes.OMICS. 2018 May;22(5):354-364. doi: 10.1089/omi.2018.0019. Epub 2018 Apr 30.
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Telomere Length-Associated Genetic Variants and the Risk of Thyroid Cancer in Survivors of Childhood Cancer: A Report from the Childhood Cancer Survivor Study (CCSS).Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):417-419. doi: 10.1158/1055-9965.EPI-18-0972. Epub 2018 Oct 30.
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Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.J Neurochem. 2020 Apr;153(2):264-275. doi: 10.1111/jnc.14935. Epub 2020 Jan 8.
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Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells.Front Immunol. 2019 Apr 24;10:881. doi: 10.3389/fimmu.2019.00881. eCollection 2019.
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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19.
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Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice.J Physiol. 2019 Sep;597(18):4757-4778. doi: 10.1113/JP278454. Epub 2019 Aug 22.
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Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.J Gene Med. 2017 May;19(5). doi: 10.1002/jgm.2956.
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Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders.Clin Rev Allergy Immunol. 2012 Feb;42(1):16-25. doi: 10.1007/s12016-011-8286-7.
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Genome-wide differentially methylated genes in prostate cancer tissues from African-American and Caucasian men. Epigenetics. 2015;10(4):319-28.
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IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.Mol Med. 2012 Sep 25;18(1):1076-85. doi: 10.2119/molmed.2012.00056.
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Increased sensorimotor network connectivity associated with clozapine eligibility in people with schizophrenia.Psychiatry Res Neuroimaging. 2018 May 30;275:36-42. doi: 10.1016/j.pscychresns.2018.02.008. Epub 2018 Mar 6.
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Yolk sac tumor but not seminoma or teratoma is associated with abnormal epigenetic reprogramming pathway and shows frequent hypermethylation of various tumor suppressor genes.Cancer Sci. 2009 Apr;100(4):698-708. doi: 10.1111/j.1349-7006.2009.01102.x. Epub 2009 Feb 24.
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The influence of different chromosomal aberrations on molecular cytogenetic parameters in chronic lymphocytic leukemia.Cancer Genet Cytogenet. 2006 Jun;167(2):145-9. doi: 10.1016/j.cancergencyto.2005.11.019.
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Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.Cell Rep. 2017 Feb 7;18(6):1484-1498. doi: 10.1016/j.celrep.2017.01.035.
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Enhanced transcription of the gene encoding the SmN autoantigen in patients with systemic lupus erythematosus does not result in enhanced levels of the SmN protein.Autoimmunity. 1994;19(2):81-7. doi: 10.3109/08916939409009535.
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Genetic analysis results of mature cystic teratomas of the ovary in Taiwan disagree with the previous origin theory of this tumor.Hum Pathol. 2016 Jun;52:128-35. doi: 10.1016/j.humpath.2016.01.011. Epub 2016 Feb 5.
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A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.J Hum Genet. 2015 May;60(5):233-9. doi: 10.1038/jhg.2015.16. Epub 2015 Feb 26.
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Multipoint imprinting analysis indicates a common precursor cell for gonadal and nongonadal pediatric germ cell tumors.Cancer Res. 2001 Oct 1;61(19):7268-76.
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Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins.RNA Biol. 2014;11(11):1430-46. doi: 10.1080/15476286.2014.996494.
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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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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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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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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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Oxidative stress modulates theophylline effects on steroid responsiveness. Biochem Biophys Res Commun. 2008 Dec 19;377(3):797-802.
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Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests. Arch Toxicol. 2017 Feb;91(2):839-864.
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Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
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Folic acid supplementation dysregulates gene expression in lymphoblastoid cells--implications in nutrition. Biochem Biophys Res Commun. 2011 Sep 9;412(4):688-92. doi: 10.1016/j.bbrc.2011.08.027. Epub 2011 Aug 16.
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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 testosterone-regulated genes in the skeletal muscle of human immunodeficiency virus-infected men experiencing weight loss. J Clin Endocrinol Metab. 2007 Jul;92(7):2793-802. doi: 10.1210/jc.2006-2722. Epub 2007 Apr 17.
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Change in mRNA Expression after Atenolol, a Beta-adrenergic Receptor Antagonist and Association with Pharmacological Response. Arch Drug Inf. 2009 Sep;2(3):41-50. doi: 10.1111/j.1753-5174.2009.00020.x.
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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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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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BET bromodomain protein inhibition is a therapeutic option for medulloblastoma. Oncotarget. 2013 Nov;4(11):2080-95.
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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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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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