1 |
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.
|
2 |
Genes associated with inflammation and the cell cycle may serve as biomarkers for the diagnosis and prognosis of acute myocardial infarction in a Chinese population.Mol Med Rep. 2018 Aug;18(2):1311-1322. doi: 10.3892/mmr.2018.9077. Epub 2018 May 25.
|
3 |
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.J Cell Mol Med. 2017 Oct;21(10):2268-2275. doi: 10.1111/jcmm.13147. Epub 2017 May 13.
|
4 |
Phenotypic and mutational spectrum of 21 Chinese patients with Alstrm syndrome.Am J Med Genet A. 2020 Feb;182(2):279-288. doi: 10.1002/ajmg.a.61412. Epub 2019 Nov 22.
|
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Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.PLoS One. 2017 Jan 30;12(1):e0170694. doi: 10.1371/journal.pone.0170694. eCollection 2017.
|
6 |
Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.Ophthalmic Genet. 2019 Feb;40(1):7-11. doi: 10.1080/13816810.2018.1561900. Epub 2019 Jan 2.
|
7 |
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alstrm syndrome.Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24.
|
8 |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alstrm syndrome.Eur J Med Genet. 2018 Feb;61(2):79-83. doi: 10.1016/j.ejmg.2017.10.016. Epub 2017 Oct 24.
|
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Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis.Circ Cardiovasc Genet. 2013 Dec;6(6):569-78. doi: 10.1161/CIRCGENETICS.111.000027. Epub 2013 Oct 11.
|
10 |
ALMS1 and Alstrm syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.J Mol Med (Berl). 2019 Jan;97(1):1-17. doi: 10.1007/s00109-018-1714-x. Epub 2018 Nov 12.
|
11 |
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.Clin Genet. 2015 Feb;87(2):161-6. doi: 10.1111/cge.12342. Epub 2014 Feb 18.
|
12 |
Obeticholic acid improves adipose morphometry and inflammation and reduces steatosis in dietary but not metabolic obesity in mice.Obesity (Silver Spring). 2017 Jan;25(1):155-165. doi: 10.1002/oby.21701. Epub 2016 Nov 2.
|
13 |
Role of Alstrm syndrome 1 in the regulation of blood pressure and renal function.JCI Insight. 2018 Nov 2;3(21):e95076. doi: 10.1172/jci.insight.95076.
|
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Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.
|
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Genomic knockout of alms1 in zebrafish recapitulates Alstrm syndrome and provides insight into metabolic phenotypes.Hum Mol Genet. 2019 Jul 1;28(13):2212-2223. doi: 10.1093/hmg/ddz053.
|
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Alstrm Syndrome: Mutation Spectrum of ALMS1.Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.
|
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Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.Eur J Med Genet. 2014 Sep;57(9):532-5. doi: 10.1016/j.ejmg.2014.06.004. Epub 2014 Jun 24.
|
18 |
Genome-wide association study of schizophrenia in Ashkenazi Jews.Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):649-59. doi: 10.1002/ajmg.b.32349. Epub 2015 Jul 21.
|
19 |
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.Eur J Hum Genet. 2014 Jan;22(1):140-3. doi: 10.1038/ejhg.2013.87. Epub 2013 May 8.
|
20 |
Stem cell transcriptome responses and corresponding biomarkers that indicate the transition from adaptive responses to cytotoxicity. Chem Res Toxicol. 2017 Apr 17;30(4):905-922.
|
21 |
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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Differential modulation of PI3-kinase/Akt pathway during all-trans retinoic acid- and Am80-induced HL-60 cell differentiation revealed by DNA microarray analysis. Biochem Pharmacol. 2004 Dec 1;68(11):2177-86.
|
23 |
Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
|
24 |
Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
|
25 |
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.
|
26 |
Comparison of phenotypic and transcriptomic effects of false-positive genotoxins, true genotoxins and non-genotoxins using HepG2 cells. Mutagenesis. 2011 Sep;26(5):593-604.
|
27 |
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.
|
28 |
Large-scale in silico and microarray-based identification of direct 1,25-dihydroxyvitamin D3 target genes. Mol Endocrinol. 2005 Nov;19(11):2685-95.
|
29 |
Proteomic analysis of hepatic effects of phenobarbital in mice with humanized liver. Arch Toxicol. 2022 Oct;96(10):2739-2754. doi: 10.1007/s00204-022-03338-7. Epub 2022 Jul 26.
|
30 |
Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.
|
31 |
Reduced camptothecin sensitivity of estrogen receptor-positive human breast cancer cells following exposure to di(2-ethylhexyl)phthalate (DEHP) is associated with DNA methylation changes. Environ Toxicol. 2019 Apr;34(4):401-414.
|
32 |
Transcriptional signature of human macrophages exposed to the environmental contaminant benzo(a)pyrene. Toxicol Sci. 2010 Apr;114(2):247-59.
|
33 |
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.
|
34 |
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.
|
35 |
Environmental pollutant induced cellular injury is reflected in exosomes from placental explants. Placenta. 2020 Jan 1;89:42-49. doi: 10.1016/j.placenta.2019.10.008. Epub 2019 Oct 17.
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