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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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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.Sci Rep. 2019 Nov 18;9(1):16952. doi: 10.1038/s41598-019-52474-1.
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Analysis of oncogenic activities of protein kinase D1 in head and neck squamous cell carcinoma.BMC Cancer. 2018 Nov 12;18(1):1107. doi: 10.1186/s12885-018-4965-6.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
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Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.BMC Med Genet. 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y.
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Polycystin-1 affects cancer cell behaviour and interacts with mTOR and Jak signalling pathways in cancer cell lines.J Cell Mol Med. 2019 Sep;23(9):6215-6227. doi: 10.1111/jcmm.14506. Epub 2019 Jun 28.
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Renal disease in tuberous sclerosis complex: pathogenesis and therapy.Nat Rev Nephrol. 2018 Nov;14(11):704-716. doi: 10.1038/s41581-018-0059-6.
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ALG9 Mutation Carriers Develop Kidney and Liver Cysts. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8.
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PKD1 negatively regulates cell invasion, migration and proliferation ability of human osteosarcoma.Int J Oncol. 2012 Jun;40(6):1839-48. doi: 10.3892/ijo.2012.1400. Epub 2012 Mar 12.
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Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer.Cancer Med. 2019 Feb;8(2):729-741. doi: 10.1002/cam4.1938. Epub 2019 Jan 16.
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The phosphorylation status of PIP5K1C at serine 448 can be predictive for invasive ductal carcinoma of the breast.Oncotarget. 2018 Nov 20;9(91):36358-36370. doi: 10.18632/oncotarget.26357. eCollection 2018 Nov 20.
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Polycystin-1 and polycystin-2 are involved in the acquisition of aggressive phenotypes in colorectal cancer.Int J Cancer. 2015 Apr 1;136(7):1515-27. doi: 10.1002/ijc.29140. Epub 2014 Sep 3.
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Protein kinase D isoforms are activated in an agonist-specific manner in cardiomyocytes.J Biol Chem. 2011 Feb 25;286(8):6500-9. doi: 10.1074/jbc.M110.208058. Epub 2010 Dec 14.
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Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis.J Nephrol. 2006 Jul-Aug;19(4):529-34.
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The role of DNA damage as a therapeutic target in autosomal dominant polycystic kidney disease.Expert Rev Mol Med. 2019 Nov 26;21:e6. doi: 10.1017/erm.2019.6.
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Epigenetic inactivation of protein kinase D1 in gastric cancer and its role in gastric cancer cell migration and invasion.Carcinogenesis. 2008 Mar;29(3):629-37. doi: 10.1093/carcin/bgm291. Epub 2008 Feb 17.
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The association of endothelin-1 levels with renal survival in polycystic kidney disease patients.J Nephrol. 2019 Feb;32(1):83-91. doi: 10.1007/s40620-018-0514-2. Epub 2018 Jul 18.
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Molecular diagnosis and characterization of a culture-negative mycotic aneurysm due to ST54 Haemophilus influenzae type b with PBP 3 alterations.J Infect Chemother. 2018 Jul;24(7):570-572. doi: 10.1016/j.jiac.2017.12.013. Epub 2018 Jan 17.
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Pkd1-targeted mutation reveals a role for the Wolffian duct in autosomal dominant polycystic kidney disease.J Dev Orig Health Dis. 2020 Feb;11(1):78-85. doi: 10.1017/S2040174419000436. Epub 2019 Aug 15.
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Data-driven Analysis of TRP Channels in Cancer: Linking Variation in Gene Expression to Clinical Significance.Cancer Genomics Proteomics. 2016 Jan-Feb;13(1):83-90.
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Cloning, chromosomal localization, and tissue expression of autotaxin from human teratocarcinoma cells.Biochem Biophys Res Commun. 1996 Jan 26;218(3):714-9. doi: 10.1006/bbrc.1996.0127.
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Caffeine Accelerates Cystic Kidney Disease in a Pkd1-Deficient Mouse Model.Cell Physiol Biochem. 2019;52(5):1061-1074. doi: 10.33594/000000072.
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PKD1 is downregulated in non-small cell lung cancer and mediates the feedback inhibition of mTORC1-S6K1 axis in response to phorbol ester.Int J Biochem Cell Biol. 2015 Mar;60:34-42. doi: 10.1016/j.biocel.2014.12.018. Epub 2015 Jan 9.
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Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis.FASEB J. 2018 Jul;32(7):3574-3582. doi: 10.1096/fj.201700923R. Epub 2018 Feb 16.
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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23.
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Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca(2+) in knock-out mouse models of polycystic kidney disease.J Biol Chem. 2017 Oct 27;292(43):17897-17908. doi: 10.1074/jbc.M117.803775. Epub 2017 Sep 8.
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Association of genetic polymorphism of PC-1 gene (rs1044498 Lys121Gln) with insulin-resistant type 2 diabetes mellitus in Punjabi Population of Pakistan.Mol Genet Genomic Med. 2019 Aug;7(8):e775. doi: 10.1002/mgg3.775. Epub 2019 Jun 28.
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Protein kinase D1 regulates subcellular localisation and metastatic function of metastasis-associated protein 1.Br J Cancer. 2018 Feb 20;118(4):587-599. doi: 10.1038/bjc.2017.431. Epub 2018 Feb 20.
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An autopsy case of subarachnoid hemorrhage due to ruptured cerebral aneurysm associated with polycystic kidney disease caused by a novel PKD1 mutation.Forensic Sci Int. 2014 Sep;242:e18-e21. doi: 10.1016/j.forsciint.2014.06.029. Epub 2014 Jul 2.
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PKD1 is a potential biomarker and therapeutic target in triple-negative breast cancer.Oncotarget. 2018 May 1;9(33):23208-23219. doi: 10.18632/oncotarget.25292. eCollection 2018 May 1.
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Alternative splicing events is not a key event for gene expression regulation in uremia.PLoS One. 2013 Dec 16;8(12):e82702. doi: 10.1371/journal.pone.0082702. eCollection 2013.
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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27.
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Identification of genes that modulate sensitivity of U373MG glioblastoma cells to cis-platinum.Anticancer Drugs. 2006 Aug;17(7):733-51. doi: 10.1097/01.cad.0000217429.67455.18.
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A Pkd1-Fbn1 genetic interaction implicates TGF- signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.J Am Soc Nephrol. 2014 Jan;25(1):81-91. doi: 10.1681/ASN.2012050486. Epub 2013 Sep 26.
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Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation.Stem Cell Res. 2017 Dec;25:83-87. doi: 10.1016/j.scr.2017.10.026. Epub 2017 Oct 28.
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Protein kinase D1 regulates metabolic switch in pancreatic cancer via modulation of mTORC1.Br J Cancer. 2020 Jan;122(1):121-131. doi: 10.1038/s41416-019-0629-9. Epub 2019 Dec 10.
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Peripheral assessment of the genes AQP4, PBP and TH in patients with Parkinson's disease.Neurochem Res. 2012 Mar;37(3):512-5. doi: 10.1007/s11064-011-0637-5. Epub 2011 Nov 15.
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IL-1 beta- and IL-4-induced down-regulation of autotaxin mRNA and PC-1 in fibroblast-like synoviocytes of patients with rheumatoid arthritis (RA).Clin Exp Immunol. 2001 Jan;123(1):147-54. doi: 10.1046/j.1365-2249.2001.01432.x.
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Blood transcript immune signatures distinguish a subset of people with elevated serum ALT from others given acetaminophen. Clin Pharmacol Ther. 2016 Apr;99(4):432-41.
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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 novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One. 2012;7(5):e36711. doi: 10.1371/journal.pone.0036711. Epub 2012 May 4.
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Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
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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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Effects of ciglitazone and troglitazone on the proliferation of human stomach cancer cells. World J Gastroenterol. 2009 Jan 21;15(3):310-20.
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Expression profile analysis of colon cancer cells in response to sulindac or aspirin. Biochem Biophys Res Commun. 2002 Mar 29;292(2):498-512.
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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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Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells. Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:48-54. doi: 10.1016/j.mrgentox.2014.10.011. Epub 2014 Nov 4.
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