| ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population. | 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., Free PMC Article | 07/7/2023 |
| Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease. | 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. | 02/9/2023 |
| Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease. | 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. | 10/29/2022 |
| Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer. | 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. | 05/14/2022 |
| Our findings suggest that ITPKC is a susceptibility gene for bone mineral density (BMD), and rs2607420 may play an important role in the regulation of this gene | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density.
Lu HF, Wong HS, Chen BK, Liao HT, Hsu YW, Ikegawa S, Cho EC, Hung KS, Chang WC., Free PMC Article | 07/20/2019 |
| This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. | 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., Free PMC Article | 03/10/2018 |
| Genetic variants of ITPKC may have a potential association with HSCR (Hirschsprung disease) susceptibility and/or developmental diseases related to enteric nervous system development. | 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. | 12/23/2017 |
| this study shows 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 production of IL-1beta and IL-18. | 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. | 08/19/2017 |
| ITPKC polymorphisms are associated with Kawasaki disease. | The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.
Wang W, Lou J, Zhong R, Qi YQ, Shen N, Lu XZ, Wang YJ, Zhang Q, Zou L, Duan JY, Ke JT, Miao XP, Gong FQ., Free PMC Article | 11/14/2015 |
| SNP rs7251246 in ITPKC is associated with the severity of Kawasaki disease | Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.
Kuo HC, Hsu YW, Lo MH, Huang YH, Chien SC, Chang WC., Free PMC Article | 05/30/2015 |
| Our results identify a novel polymorphism for renal function and highlight the importance of ITPKC as a key molecule to regulate calcium signaling. | Study of the association between ITPKC genetic polymorphisms and calcium nephrolithiasis.
Kan WC, Chou YH, Chiu SJ, Hsu YW, Lu HF, Hsu W, Chang WC., Free PMC Article | 01/24/2015 |
| a combinatorial association between ITPKC (rs28493229) and CASP3 (rs113420705) was found in coronary artery lesion formation (P = 0.0227, OR: 3.06)in Taiwanese population | A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.
Kuo HC, Hsu YW, Wu CM, Chen SH, Hung KS, Chang WP, Yang KD, Hsieh KS, Chen WC, Onouchi Y, Chang WC., Free PMC Article | 04/5/2014 |
| functional studies demonstrated that PPP3CC positively influences the protein level of ITPKC, likely by inhibiting phosphorylation of ITPKC and consequently preventing ITPKC from ubiquitin-mediated protein degradation | PPP3CC feedback regulates IP3-Ca2+ pathway through preventing ITPKC degradation.
Li P, Zhang P, Lin Y, Shan J, Wang J, Zhou T, Zhu Z, Huo K. | 01/25/2014 |
| Functional single-nucleotide polymorphisms in ITPKC and CASP3 are associated with susceptibility to Kawasaki's disease (KD). | ITPKC and CASP3 polymorphisms and risks for IVIG unresponsiveness and coronary artery lesion formation in Kawasaki disease.
Onouchi Y, Suzuki Y, Suzuki H, Terai M, Yasukawa K, Hamada H, Suenaga T, Honda T, Honda A, Kobayashi H, Takeuchi T, Yoshikawa N, Sato J, Shibuta S, Miyawaki M, Oishi K, Yamaga H, Aoyagi N, Iwahashi S, Miyashita R, Murata Y, Ebata R, Higashi K, Ozaki K, Sasago K, Tanaka T, Hata A. | 10/26/2013 |
| the functional polymorphism rs28493229 in ITPKC significantly contributes to the risk of Kawasaki disease. | A functional polymorphism, rs28493229, in ITPKC and risk of Kawasaki disease: an integrated meta-analysis.
Lou J, Xu S, Zou L, Zhong R, Zhang T, Sun Y, Lu X, Liu L, Li C, Wang L, Xiong G, Wang W, Gong F, Wu J. | 04/6/2013 |
| The C allele of the ITPKC gene rs2290692 is linked to a significantly higher risk for KD in the Han Chinese population studied. | Single-nucleotide polymorphism rs2290692 in the 3'UTR of ITPKC associated with susceptibility to Kawasaki disease in a Han Chinese population.
Peng Q, Chen C, Zhang Y, He H, Wu Q, Liao J, Li B, Luo C, Hu X, Zheng Z, Yang Y. | 02/16/2013 |
| ITPKC susceptibility in Kawasaki syndrome is related to its synergy with environmental triggers, such as thimerosal, which alter calcium homeostasis and promote oxidative stress. | ITPKC susceptibility in Kawasaki syndrome as a sensitizing factor for autoimmunity and coronary arterial wall relaxation induced by thimerosal's effects on calcium signaling via IP3.
Yeter D, Deth R. | 02/9/2013 |
| It was found the G/G genotype and G allele of the inositol 1,4,5-trisphosphate 3-kinase rs28493229 polymorphism may contribute to the risk of cervical squamous cell carcinoma in Taiwanese women. | Genetic polymorphisms in the ITPKC gene and cervical squamous cell carcinoma risk.
Yang YC, Chang TY, Chen TC, Chang SC, Chen WF, Chan HW, Lin WS, Wu FT, Lee YJ., Free PMC Article | 02/2/2013 |
| The study failed to prove any association between SNP rs28493229 of ITPKC gene and Kawasaki disease/coronary artery lesions in Chinese patients. | [Association study of a functional SNP rs28493229 of ITPKC gene and Kawasaki disease in a Chinese population].
Peng Q, Chen CH, Wu Q, Li B, Liao J, Luo CD, Hu XP, Zheng Z, He HL, Zhang Y. | 04/14/2012 |
| results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population | ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population.
Kuo HC, Yang KD, Juo SH, Liang CD, Chen WC, Wang YS, Lee CH, Hsi E, Yu HR, Woon PY, Lin IC, Huang CF, Hwang DY, Lee CP, Lin LY, Chang WP, Chang WC., Free PMC Article | 09/3/2011 |
| Single nucleotide polymorphism rs28493229 in ITPKC contributes to Kawasaki disease susceptibility through induced hyperimmune function reflected in the BCG reactivation. | Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH, Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH. | 04/23/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| A statistically significant association was not found between the ITPKC gene single-nucleotide polymorphism rs28493229 and Kawasaki disease or coronary artery lesions in Taiwanese children. | ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.
Chi H, Huang FY, Chen MR, Chiu NC, Lee HC, Lin SP, Chen WF, Lin CL, Chan HW, Liu HF, Huang LM, Lee YJ, Chi H, Huang FY, Chen MR, Chiu NC, Lee HC, Lin SP, Chen WF, Lin CL, Chan HW, Liu HF, Huang LM, Lee YJ. | 06/14/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesClinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH, Lin MT, Wang JK, Yeh JI, Sun LC, Chen PL, Wu JF, Chang CC, Lee WL, Shen CT, Wang NK, Wu CS, Yeh SZ, Chen CA, Chiu SN, Wu MH. ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.
Chi H, Huang FY, Chen MR, Chiu NC, Lee HC, Lin SP, Chen WF, Lin CL, Chan HW, Liu HF, Huang LM, Lee YJ, Chi H, Huang FY, Chen MR, Chiu NC, Lee HC, Lin SP, Chen WF, Lin CL, Chan HW, Liu HF, Huang LM, Lee YJ. | 01/20/2010 |
| ITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signaling pathway, and the C allele may contribute to immune hyper-reactivity in Kawasaki disease. | ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Nakamura Y, Hata A., Free PMC Article | 01/21/2010 |