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2014 2
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29 results

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Page 1
Potential association between ITPKC genetic variations and Hirschsprung disease.
Kim JH, Jung SM, Shin JG, Cheong HS, Seo JM, Kim DY, Oh JT, Kim HY, Jung K, Shin HD. Kim JH, et al. Mol Biol Rep. 2017 Jul;44(3):307-313. doi: 10.1007/s11033-017-4111-6. Epub 2017 Jun 29. Mol Biol Rep. 2017. PMID: 28664405
Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kinase C (ITPKC). For fine mapping, we additionally selected and genotyped a total of 12 single nucleotide polymorphisms (SNPs) of IT …
Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kin …
Immunogenetics of Kawasaki disease.
Kumrah R, Vignesh P, Rawat A, Singh S. Kumrah R, et al. Clin Rev Allergy Immunol. 2020 Aug;59(1):122-139. doi: 10.1007/s12016-020-08783-9. Clin Rev Allergy Immunol. 2020. PMID: 32200494 Review.
The genes that are studied in KD can be classified under 4 major groups-enhanced T cell activation (ITPKC, ORAI1, STIM1), dysregulated B cell signaling (CD40, BLK, FCGR2A), decreased apoptosis (CASP3), and altered transforming growth factor beta signaling (TGFB2, TGFBR2, M …
The genes that are studied in KD can be classified under 4 major groups-enhanced T cell activation (ITPKC, ORAI1, STIM1), dysregulate …
Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.
Zhu L, Zheng Y, Wu T, He J, Fang X, Zhou S, Wang K, Wang N. Zhu L, et al. Eur J Cancer Prev. 2021 Sep 1;30(5):357-363. doi: 10.1097/CEJ.0000000000000641. Eur J Cancer Prev. 2021. PMID: 33470690
OBJECTIVES: STIM1, ITPKC and PELI1 are all immune-related genes that take part in the T cell activation, toll-like receptor and IL1 receptor pathways. The goal of this study was to evaluate the associations between STIM1, ITPKC and PELI1 polymorphisms and colorectal …
OBJECTIVES: STIM1, ITPKC and PELI1 are all immune-related genes that take part in the T cell activation, toll-like receptor and IL1 r …
Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease.
Ji ML, Dong JY, Xu Y, Pan YT, Fan ZD, Yu HG. Ji ML, et al. Indian J Pediatr. 2023 Jan;90(1):22-28. doi: 10.1007/s12098-022-04126-y. Epub 2022 Mar 30. Indian J Pediatr. 2023. PMID: 35353363
The levels of ITPKC, NLRP3, IL-1beta, and IL-18 were measured. The effect of DNA methylation on the activity of the ITPKC promoter was observed. ...Modifying DNA methylation significantly decreased the luciferase activity of the plasmid containing the ITPKC p …
The levels of ITPKC, NLRP3, IL-1beta, and IL-18 were measured. The effect of DNA methylation on the activity of the ITPKC prom …
The genetics of Kawasaki disease.
Onouchi Y. Onouchi Y. Int J Rheum Dis. 2018 Jan;21(1):26-30. doi: 10.1111/1756-185X.13218. Epub 2017 Nov 19. Int J Rheum Dis. 2018. PMID: 29152908 Review.
Kawasaki disease (KD) is a complex disorder which affects genetically susceptible infants and children. Several susceptibility genes (e.g., ITPKC, CASP3, CD40 and ORAI) and chromosomal regions have been identified through genome-wide association and genome-wide linkage stu …
Kawasaki disease (KD) is a complex disorder which affects genetically susceptible infants and children. Several susceptibility genes (e.g., …
ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease.
Kim KY, Bae YS, Ji W, Shin D, Kim HS, Kim DS. Kim KY, et al. Yonsei Med J. 2018 Jan;59(1):119-127. doi: 10.3349/ymj.2018.59.1.119. Yonsei Med J. 2018. PMID: 29214786 Free PMC article.
RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. ...Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema …
RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. ... …
Intravenous immunoglobulin, pharmacogenomics, and Kawasaki disease.
Kuo HC, Hsu YW, Wu MS, Chien SC, Liu SF, Chang WC. Kuo HC, et al. J Microbiol Immunol Infect. 2016 Feb;49(1):1-7. doi: 10.1016/j.jmii.2014.11.001. Epub 2014 Nov 11. J Microbiol Immunol Infect. 2016. PMID: 25556045 Free article. Review.
Findings in the past decade have contributed to a major breakthrough in the genetics of KD, with the identification of several genomic regions linked to the pathogenesis of KD, including ITPKC, CD40, BLK, and FCGR2A. This review focuses on the factors associated with the g …
Findings in the past decade have contributed to a major breakthrough in the genetics of KD, with the identification of several genomic regio …
ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population.
Liu J, Yuan P, Pang Y, Su D. Liu J, et al. Front Immunol. 2023 Jun 19;14:1184162. doi: 10.3389/fimmu.2023.1184162. eCollection 2023. Front Immunol. 2023. PMID: 37404818 Free PMC article.
Children with KD, especially those with CAA, had significantly downregulated ITPKC mRNA compared to healthy children. ITPKC mRNA levels were lower in children with CAA who developed thrombosis (P=0.039). In children with KD, the CC genotype showed lower mRNA levels …
Children with KD, especially those with CAA, had significantly downregulated ITPKC mRNA compared to healthy children. ITPKC mR …
Inositol-Triphosphate 3-Kinase C Mediates Inflammasome Activation and Treatment Response in Kawasaki Disease.
Alphonse MP, Duong TT, Shumitzu C, Hoang TL, McCrindle BW, Franco A, Schurmans S, Philpott DJ, Hibberd ML, Burns J, Kuijpers TW, Yeung RS. Alphonse MP, et al. J Immunol. 2016 Nov 1;197(9):3481-3489. doi: 10.4049/jimmunol.1600388. Epub 2016 Sep 30. J Immunol. 2016. PMID: 27694492 Free article.
We show that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and product …
We show that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional …
Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease.
Bhattarai D, Kumrah R, Kaur A, Kaur A, Srivastava P, Rawat A, Singh S. Bhattarai D, et al. Pediatr Res. 2022 Oct;92(4):1090-1098. doi: 10.1038/s41390-021-01830-x. Epub 2021 Dec 24. Pediatr Res. 2022. PMID: 34952936
Association of SNPs of inositol 1,4,5-triphosphate-3-kinase C (ITPKC) gene with susceptibility to KD and coronary artery lesions (CALs) has been observed in children of certain ethnicities, but not from others. ...Impact of ITPKC gene SNP on KD is different across d …
Association of SNPs of inositol 1,4,5-triphosphate-3-kinase C (ITPKC) gene with susceptibility to KD and coronary artery lesions (CAL …
29 results