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 |
New aspects of myofibrillar myopathies.Curr Opin Neurol. 2016 Oct;29(5):628-34. doi: 10.1097/WCO.0000000000000357.
|
3 |
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.
|
4 |
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837.
|
5 |
Foxp3?Treg Cells Are Associated with Pathological Process of Autoimmune Hepatitis by Activating Methylation Modification in Autoimmune Hepatitis Patients.Med Sci Monit. 2019 Aug 18;25:6204-6212. doi: 10.12659/MSM.915408.
|
6 |
High ASMA(+) Fibroblasts and Low Cytoplasmic HMGB1(+) Breast Cancer Cells Predict PoorPrognosis.Clin Breast Cancer. 2017 Oct;17(6):441-452.e2. doi: 10.1016/j.clbc.2017.04.007. Epub 2017 Apr 21.
|
7 |
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3.
|
8 |
His(73), often methylated, is an important structural determinant for actin. A mutagenic analysis of HIS(73) of yeast actin. J Biol Chem. 1999 Dec 24;274(52):37443-9. doi: 10.1074/jbc.274.52.37443.
|
9 |
One-year Mortality Outcomes From the Advancing Cryptococcal Meningitis Treatment for Africa Trial of Cryptococcal Meningitis Treatment in Malawi.Clin Infect Dis. 2020 Jan 16;70(3):521-524. doi: 10.1093/cid/ciz454.
|
10 |
Nemaline myopathy with dilated cardiomyopathy in childhood.Pediatrics. 2013 Jun;131(6):e1986-90. doi: 10.1542/peds.2012-1139. Epub 2013 May 6.
|
11 |
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.Neuromuscul Disord. 2019 Mar;29(3):247-250. doi: 10.1016/j.nmd.2018.12.001. Epub 2018 Dec 10.
|
12 |
Assessment of the Prevalence of Non-Organ-Specific Autoantibodies in Egyptian Patients with HCV.Immunol Invest. 2020 Aug;49(6):676-686. doi: 10.1080/08820139.2019.1699108. Epub 2019 Dec 10.
|
13 |
RAPD- and actA gene-typing of Listeria monocytogenes isolates of human listeriosis, the intestinal contents of cows and beef.Microbiol Immunol. 2001;45(2):127-33. doi: 10.1111/j.1348-0421.2001.tb01280.x.
|
14 |
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.Neuromuscul Disord. 2019 May;29(5):388-391. doi: 10.1016/j.nmd.2019.02.012. Epub 2019 Mar 2.
|
15 |
Association of vitamin D receptor gene polymorphisms with polycystic ovary syndrome among Indian women.Indian J Med Res. 2015 Sep;142(3):276-85. doi: 10.4103/0971-5916.166587.
|
16 |
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37.
|
17 |
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thringen).Hum Genet. 1993 Apr;91(3):295-7. doi: 10.1007/BF00218278.
|
18 |
Association of polymorphisms in microRNA machinery genes (DROSHA, DICER1, RAN, and XPO5) with risk of idiopathic primary ovarian insufficiency in Korean women.Menopause. 2013 Oct;20(10):1067-73. doi: 10.1097/GME.0b013e3182883907.
|
19 |
Identification of SERPINE1, PLAU and ACTA1 as biomarkers of head and neck squamous cell carcinoma based on integrated bioinformatics analysis.Int J Clin Oncol. 2019 Sep;24(9):1030-1041. doi: 10.1007/s10147-019-01435-9. Epub 2019 Apr 1.
|
20 |
Actin mutations are one cause of congenital fibre type disproportion.Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260.
|
21 |
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.
|
22 |
Congenital Fiber-Type Disproportion C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jan 12 [updated 2013 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
|
23 |
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). Neuromuscul Disord. 2015 May;25(5):388-91. doi: 10.1016/j.nmd.2015.02.003. Epub 2015 Feb 14.
|
24 |
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.Autophagy. 2019 Jun;15(6):1082-1099. doi: 10.1080/15548627.2019.1569933. Epub 2019 Jan 29.
|
25 |
Association of defensin beta-1 gene polymorphisms with asthma.J Allergy Clin Immunol. 2005 Feb;115(2):252-8. doi: 10.1016/j.jaci.2004.11.013.
|
26 |
Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis.Circ J. 2010 Nov;74(11):2410-8. doi: 10.1253/circj.cj-10-0234. Epub 2010 Oct 15.
|
27 |
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.
|
28 |
Prevalence and phenotypes of congenital myopathy due to -actin 1 gene mutations.Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13.
|
29 |
The impact of placental massive perivillous fibrin deposition on neonatal outcome in pregnancies complicated by fetal growth restriction.Placenta. 2019 Nov;87:46-52. doi: 10.1016/j.placenta.2019.09.007. Epub 2019 Sep 17.
|
30 |
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.Hum Mol Genet. 2004 Aug 15;13(16):1727-43. doi: 10.1093/hmg/ddh185. Epub 2004 Jun 15.
|
31 |
Structure of the F-actin-tropomyosin complex.Nature. 2015 Mar 5;519(7541):114-7. doi: 10.1038/nature14033. Epub 2014 Dec 1.
|
32 |
Correlation of alpha-skeletal actin expression, ventricular fibrosis and heart function with the degree of pressure overload cardiac hypertrophy in rats.Exp Physiol. 2006 May;91(3):571-80. doi: 10.1113/expphysiol.2005.032607. Epub 2006 Feb 1.
|
33 |
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.
|
34 |
Integrative "-Omics" analysis in primary human hepatocytes unravels persistent mechanisms of cyclosporine A-induced cholestasis. Chem Res Toxicol. 2016 Dec 19;29(12):2164-2174.
|
35 |
Identification of genomic biomarkers for anthracycline-induced cardiotoxicity in human iPSC-derived cardiomyocytes: an in vitro repeated exposure toxicity approach for safety assessment. Arch Toxicol. 2016 Nov;90(11):2763-2777.
|
36 |
Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
|
37 |
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.
|
38 |
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.
|
39 |
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.
|
40 |
Effects of 1alpha,25 dihydroxyvitamin D3 and testosterone on miRNA and mRNA expression in LNCaP cells. Mol Cancer. 2011 May 18;10:58.
|
41 |
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.
|
42 |
Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
|
43 |
Drug-induced endoplasmic reticulum and oxidative stress responses independently sensitize toward TNF-mediated hepatotoxicity. Toxicol Sci. 2014 Jul;140(1):144-59. doi: 10.1093/toxsci/kfu072. Epub 2014 Apr 20.
|
44 |
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.
|
45 |
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.
|
46 |
Cytosine arabinoside induces ectoderm and inhibits mesoderm expression in human embryonic stem cells during multilineage differentiation. Br J Pharmacol. 2011 Apr;162(8):1743-56.
|
47 |
Cell death mechanisms of the anti-cancer drug etoposide on human cardiomyocytes isolated from pluripotent stem cells. Arch Toxicol. 2018 Apr;92(4):1507-1524.
|
48 |
Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
|
49 |
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.
|
50 |
Endoplasmic reticulum stress and MAPK signaling pathway activation underlie leflunomide-induced toxicity in HepG2 Cells. Toxicology. 2017 Dec 1;392:11-21.
|
51 |
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.
|
52 |
Gene expression alteration during redox-dependent enhancement of arsenic cytotoxicity by emodin in HeLa cells. Cell Res. 2005 Jul;15(7):511-22.
|
53 |
Isobaric tags for relative and absolute quantitation-based proteomics analysis of the effect of ginger oil on bisphenol A-induced breast cancer cell proliferation. Oncol Lett. 2021 Feb;21(2):101. doi: 10.3892/ol.2020.12362. Epub 2020 Dec 8.
|
|
|
|
|
|
|