| Calmodulin binds and modulates K(+)-dependent Na(+)/Ca(2+)-exchanger isoform 4, NCKX4. | Calmodulin binds and modulates K(+)-dependent Na(+)/Ca(2+)-exchanger isoform 4, NCKX4.
Thibodeau S, Yang W, Sharma S, Lytton J., Free PMC Article | 08/28/2021 |
| Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. | Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
Meyer OS, Lunn MMB, Garcia SL, Kjærbye AB, Morling N, Børsting C, Andersen JD., Free PMC Article | 11/21/2020 |
| This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel. The identified variant highlights the critical role of SLC24A4 in causing a rare Amelogenesis imperfecta (AI) type in humans. | A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
Khan SA, Khan MA, Muhammad N, Bashir H, Khan N, Muhammad N, Yilmaz R, Khan S, Wasif N., Free PMC Article | 07/18/2020 |
| no significant relation was noted between SLC24A4 rs10498633 and late-onset Alzheimer;s disease risk in neither apolipoprotein E (APOE) epsilon4 carriers nor non-carriers after adjusting for age and gender | Lack of Association Between SLC24A4 Polymorphism and Late-onset Alzheimer's Disease in Han Chinese.
Lu H, Zhu XC, Wang HF, Cao L, Tan MS, Tan CC, Jiang T, Yu JT, Tan L. | 10/14/2017 |
| pigment cells express robust, functional NCKX4 activity | Identification and Characterization of K(+)-Dependent Na(+)-Ca(2+) Exchange Transport in Pigmented MEB4 Cells Mediated by NCKX4.
Szerencsei RT, Ginger RS, Green MR, Schnetkamp PP. | 04/29/2017 |
| mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. | A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
Jalloul AH, Rogasevskaia TP, Szerencsei RT, Schnetkamp PP., Free PMC Article | 11/19/2016 |
| The expressions of NCX1 and NCKX4 were significantly higher in the patent ductus arteriosus group at both the protein and mRNA levels. | Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.
Hong H, Xia Y, Sun Y, Ye L, Liu J, Bai J, Zhang H. | 12/19/2015 |
| enamel maturation is dependent upon STIM1 and SLC24A4 function, and that there are important differences in the Ca(2+) transcellular transport systems used by secretory- and maturation-stage ameloblasts. | STIM1 and SLC24A4 Are Critical for Enamel Maturation.
Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, Tuna E, Gençay K, Simmer JP, Hu JC., Free PMC Article | 08/1/2015 |
| Brain DNA methylation in sLC24A4 was associated with pathological Alzheimer disease. | Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.
Yu L, Chibnik LB, Srivastava GP, Pochet N, Yang J, Xu J, Kozubek J, Obholzer N, Leurgans SE, Schneider JA, Meissner A, De Jager PL, Bennett DA., Free PMC Article | 03/21/2015 |
| These findings support a key role for SLC24A4 in calcium transport during enamel formation. | Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ., Free PMC Article | 04/6/2013 |
| Taken together, these data demonstrate a potentially important role for NCX1 in control of Ca2+ homeostasis and link store depletion via STIM1 directly with NCX activation. | Reverse mode Na+/Ca2+ exchange mediated by STIM1 contributes to Ca2+ influx in airway smooth muscle following agonist stimulation.
Liu B, Peel SE, Fox J, Hall IP., Free PMC Article | 03/26/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Web-based, participant-driven studies yield novel genetic associations for common traits.
Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J., Free PMC Article | 09/15/2010 |
| 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 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW., Free PMC Article | 12/2/2009 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | A genome-wide association study of hypertension and blood pressure in African Americans.
Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, Chen Y, Christman M, Rotimi C., Free PMC Article | 12/2/2009 |
| IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation. | A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ, Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ., Free PMC Articles: PMC2367449, PMC2367449 | 01/21/2010 |
| Genome-wide association study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ, Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ. Genetic determinants of hair, eye and skin pigmentation in Europeans.
Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Pálsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. | 04/3/2008 |
| identification and sequencing, as well as mapping to chromosomal region 14q32 | Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4.
Li XF, Kraev AS, Lytton J. | 01/21/2010 |