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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Familial craniosynostosis associated with a microdeletion involving the NFIA gene. Clin Dysmorphol. 2015 Jul;24(3):109-12. doi: 10.1097/MCD.0000000000000079.
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Transcription factors NFIA and NFIB induce cellular differentiation in high-grade astrocytoma.J Neurooncol. 2020 Jan;146(1):41-53. doi: 10.1007/s11060-019-03352-3. Epub 2019 Nov 23.
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The nuclear factor I/A (NFIA) gene is associated with the asthma plus rhinitis phenotype.J Allergy Clin Immunol. 2014 Sep;134(3):576-582.e1. doi: 10.1016/j.jaci.2013.12.1074. Epub 2014 Feb 20.
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Age-Related Intraneuronal Aggregation of Amyloid- in Endosomes, Mitochondria, Autophagosomes, and Lysosomes.J Alzheimers Dis. 2020;73(1):229-246. doi: 10.3233/JAD-190835.
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Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.Nat Genet. 2018 Jul;50(7):920-927. doi: 10.1038/s41588-018-0151-7. Epub 2018 Jun 25.
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Dihydrocapsaicin suppresses proinflammatory cytokines expression by enhancing nuclear factor IA in a NF-B-dependent manner.Arch Biochem Biophys. 2016 Aug 15;604:27-35. doi: 10.1016/j.abb.2016.06.002. Epub 2016 Jun 3.
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Analysis of the regulation of fatty acid binding protein 7 expression in human renal carcinoma cell lines.BMC Mol Biol. 2011 Jul 19;12:31. doi: 10.1186/1471-2199-12-31.
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Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.Eur J Hum Genet. 2016 Feb;24(2):291-7. doi: 10.1038/ejhg.2015.87. Epub 2015 Apr 29.
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A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.Eur J Pediatr. 2010 Apr;169(4):463-8. doi: 10.1007/s00431-009-1057-2. Epub 2009 Sep 8.
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- but not -secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia.EMBO Mol Med. 2012 Mar;4(3):171-9. doi: 10.1002/emmm.201100195. Epub 2012 Jan 23.
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Cell adhesion molecule-1 shedding induces apoptosis of renal epithelial cells and exacerbates human nephropathies.Am J Physiol Renal Physiol. 2018 Mar 1;314(3):F388-F398. doi: 10.1152/ajprenal.00385.2017. Epub 2017 Oct 25.
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Prognostic significance of NFIA and NFIB in esophageal squamous carcinoma and esophagogastric junction adenocarcinoma.Cancer Med. 2018 May;7(5):1756-1765. doi: 10.1002/cam4.1434. Epub 2018 Mar 25.
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BCL6 degradation caused by the interaction with the C-terminus of pro-HB-EGF induces cyclin D2 expression in gastric cancers.Br J Cancer. 2009 Apr 21;100(8):1320-9. doi: 10.1038/sj.bjc.6605010. Epub 2009 Mar 31.
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Two transcriptional activators, CCAAT-box-binding transcription factor and heat shock transcription factor, interact with a human hsp70 gene promoter.Mol Cell Biol. 1987 Mar;7(3):1129-38. doi: 10.1128/mcb.7.3.1129-1138.1987.
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CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.
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A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.J Affect Disord. 2013 Feb 20;145(2):200-7. doi: 10.1016/j.jad.2012.07.032. Epub 2012 Aug 25.
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Nuclear factor I X deficiency causes brain malformation and severe skeletal defects. Mol Cell Biol. 2007 May;27(10):3855-3867. doi: 10.1128/MCB.02293-06.
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Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.Taiwan J Obstet Gynecol. 2011 Sep;50(3):345-52. doi: 10.1016/j.tjog.2011.07.014.
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Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.Eur J Med Genet. 2014 May-Jun;57(6):267-8. doi: 10.1016/j.ejmg.2014.03.004. Epub 2014 Mar 18.
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Evidence that intramolecular associations between presenilin domains are obligatory for endoproteolytic processing.J Biol Chem. 1999 May 14;274(20):13818-23. doi: 10.1074/jbc.274.20.13818.
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Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.PLoS One. 2017 Jun 23;12(6):e0178639. doi: 10.1371/journal.pone.0178639. eCollection 2017.
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Replication of Associations of Genetic Loci Outside the HLA Region With Susceptibility to Anti-Cyclic Citrullinated Peptide-Negative Rheumatoid Arthritis.Arthritis Rheumatol. 2016 Jul;68(7):1603-13. doi: 10.1002/art.39619.
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NRBF2 is involved in the autophagic degradation process of APP-CTFs in Alzheimer disease models.Autophagy. 2017;13(12):2028-2040. doi: 10.1080/15548627.2017.1379633.
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.
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Detection and interpretation of shared genetic influences on 42 human traits.Nat Genet. 2016 Jul;48(7):709-17. doi: 10.1038/ng.3570. Epub 2016 May 16.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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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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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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Persistent and non-persistent changes in gene expression result from long-term estrogen exposure of MCF-7 breast cancer cells. J Steroid Biochem Mol Biol. 2011 Feb;123(3-5):140-50.
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Identification of transcriptome signatures and biomarkers specific for potential developmental toxicants inhibiting human neural crest cell migration. Arch Toxicol. 2016 Jan;90(1):159-80.
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The exosome-like vesicles derived from androgen exposed-prostate stromal cells promote epithelial cells proliferation and epithelial-mesenchymal transition. Toxicol Appl Pharmacol. 2021 Jan 15;411:115384. doi: 10.1016/j.taap.2020.115384. Epub 2020 Dec 25.
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Gene Expression Regulation and Pathway Analysis After Valproic Acid and Carbamazepine Exposure in a Human Embryonic Stem Cell-Based Neurodevelopmental Toxicity Assay. Toxicol Sci. 2015 Aug;146(2):311-20. doi: 10.1093/toxsci/kfv094. Epub 2015 May 15.
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THC exposure of human iPSC neurons impacts genes associated with neuropsychiatric disorders. Transl Psychiatry. 2018 Apr 25;8(1):89. doi: 10.1038/s41398-018-0137-3.
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The proapoptotic effect of zoledronic acid is independent of either the bone microenvironment or the intrinsic resistance to bortezomib of myeloma cells and is enhanced by the combination with arsenic trioxide. Exp Hematol. 2011 Jan;39(1):55-65.
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Bone marrow osteoblast damage by chemotherapeutic agents. PLoS One. 2012;7(2):e30758. doi: 10.1371/journal.pone.0030758. Epub 2012 Feb 17.
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Epigallocatechin-3-gallate (EGCG) protects against chromate-induced toxicity in vitro. Toxicol Appl Pharmacol. 2012 Jan 15;258(2):166-75.
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Transcriptional signature of human macrophages exposed to the environmental contaminant benzo(a)pyrene. Toxicol Sci. 2010 Apr;114(2):247-59.
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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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