SLC12A3 Antibody

1. This is the first report of two novel pathogenic variants of SLC12A3 and their contribution to Gitelman syndrome. PMID: 29378538
2. the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. PMID: 29661184
3. The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of end-stage renal disease in Chinese T2DM patients undergoing hemodialysis. PMID: 28744814
4. The mutations of both Gitelman syndrome pedigrees can be defined as compound heterozygous mutations in SLC12A3, most of which are known as missense mutations. PMID: 26825084
5. Allelic and genotypic frequencies of single nucleotide polymorphism rs11643718 of solute carrier family 12 (sodium-chloride transporters), member 3 protein (SLC12A3) gene are associated with the onset of disease hypertension. PMID: 29419876
6. A new recessive mutation in KLHL3 (S553L) was identified in familial hyperkalemia and hypertension. Increased urinary NCC was found in affected members (heterozygous) with dominant KLHL3 Q309R, and in affected members (homozygous) of the recessive form. PMID: 28511177
7. Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient. PMID: 28685938
8. These findings have implications in providing appropriate genetic counseling to the family with regard to the risk associated with inbreeding, the detection of carrier/presymptomatic relatives. It further expands the known spectrum of genotypic and phenotypic characteristics of Gitelman syndrome. PMID: 28446151
9. 2 novel heterozygous mutations: c.35_36insA and c.1095+5G>A were found in transcript NM_000339.2 in SLC12A3 gene were found in a patient with Gitelman syndrome. The first mutation was also found in patient's motherand the second in father. Only one of the two mutations iden-tified in our patient c.35 36insA was found in his sister. PMID: 26306968
10. Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome. PMID: 27454426
11. two novel mutations, a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16, were found to cause Gitelman syndrome in a South African family. PMID: 28125972
12. Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome. PMID: 27216017
13. we identified a novel SLC12A3 mutation in a Chinese GS pedigree, leading to the substitution of leucine by proline at codon 700 of the NCCT transporter. The proband and his elder sister had a homozygous mutation, while his mother and daughter carried one mutated allele. Because only the proband suffered from bilateral lower limb weakness, we inferred that the same genotype manifests as diverse phenotypes. PMID: 27783806
14. MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC. PMID: 28515174
15. In wild-type, total (tNCC) and phosphorylated (pNCC) NCC protein expressions were 1.8- and 4.6-fold higher in females compared with males, consistent with the larger response to HCTZ. In AT1a receptor knockout mice, tNCC and pNCC increased significantly in males to levels not different from those in females. PMID: 28566500
16. NCC1/2, NCC1-3, and pNCC1-3-T55/T60 are upregulated by hydrochlorothiazide, and the increase in NCC abundance in urinary extracellular vesicles of essential hypertensive patients correlates with the blood pressure response to hydrochlorothiazide. PMID: 28274929
17. Data show that WNK lysine deficient protein kinase 3 protein (WNK3) interacts with NCC and increases the Na-Cl cotransporter (NCC) expression on the cell membrane and in cytoplasm together. PMID: 27378340
18. variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population. PMID: 28166833
19. A significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. PMID: 27699784
20. This paper identified a novel SLC12A3 allele in Gitelman syndrome that activates a cryptic exon flanked by interspersed repeats deep in intron 12. PMID: 27784896
21. SLC12A3 gene homozygous mutation is associated with Gitelman syndrome. PMID: 26260218
22. SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population. PMID: 26751802
23. Compared with patients with 1 mutant SLC12A3 allele, patients with 2 mutant SLC12A3 alleles had more severe hypomagnesemia, but did not have more severe hypokalemia. PMID: 26770037
24. the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population. PMID: 26345939
25. Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney. PMID: 26561651
26. Low SLC12A3 urine levels were associated with Gitelman syndrome. PMID: 25422309
27. association between thiazide-sensitive Na(+)-Cl(-) cotransporter mutants and human hypertension as well as Gitelman's syndrome (review). PMID: 25841442
28. Data from two families in China suggest two homozygous mutations in SLC12A3 (Arg928Cys or Ser710X) can be associated with Gitelman syndrome; members of two families exhibit additional mutations and heterogenicity of clinical phenotype. [CASE STUDY] PMID: 25273610
29. SLC12A3 Arg913Gln polymorphism was associated with Type 2 diabetes and diabetic nephropathy in the Malaysian cohort. The meta-analysis confirmed the protective effects of SLC12A3 913Gln allele in diabetic nephropathy. PMID: 25401745
30. the SLC12A3 34372 AA genotype is associated with a reduced risk of diabetes. PMID: 24433479
31. Identification of candidate mutations in the SLC12A3 gene that may induce exon skipping. PMID: 25060058
32. findings demonstrate a predominant role played by SLC12A3 gene rs5804 in determining hypertension risk among northeastern Han Chinese PMID: 24430698
33. These results suggest that WNK4 attenuates plasma membrane targeting of NCC proteins through regulation of syntaxin 13 SNARE complex formation with VAMP2 in recycling and sorting endosome. PMID: 23993962
34. Mutation in the SLC12A3 gene is associated with gitelman syndrome and glomerular proteinuria. PMID: 25165177
35. Association with SNP rs999662 indicates a potential role for the region containing the solute carrier family 12 member 3 (SLC12A3) gene in transcranial Doppler vasospasm following sub-arachnoid hemorrhage. PMID: 22568564
36. a model where NCC is constitutively cycled to the plasma membrane, and upon stimulation, it can be phosphorylated to both increase NCC activity and decrease NCC endocytosis, together increasing NaCl transport in the DCT. PMID: 24668812
37. Highly increased excretion of total urinary NCC and phosphorylated NCC is observed in type II pseudohypoaldosteronism patients. PMID: 24026181
38. Total urine NCC excretion is diminished in a cohort of Gitelman's syndrome patients with homozygous NCC mutations. PMID: 23833262
39. Hsp70 and Hsp90 comprise two functionally distinct ER quality control checkpoints that sequentially monitor NCC biogenesis. PMID: 23482560
40. The TSC gene Arg904Gln polymorphism is not associated with essential hypertension risk. PMID: 23079845
41. Analysis of SNP databases of Japanese patuients with diabetic nephropathy revealed SLC12A3 as a gene related to the above-cited diabetic complication. PMID: 23156397
42. The NCC mutation p.Thr60Met carriers in Han populations have markedly lower blood pressure and slightly higher fasting plasma glucose compared with normal controls. PMID: 22627394
43. Forty different SLC12A3 mutations were identified PMID: 22679066
44. The study shows the identification of 38 novel mutations in the SLC12A3 gene and provides insight into the mechanisms that regulate the thiazide-sensitive NaCl cotransporter. PMID: 22009145
45. Mutation leads to a failure of the thiazide-sensitive sodium-2-chloride-cotransporter, the so called Gitelman syndrome, which presents similar to a chronic thiazide therapy PMID: 21161146
46. NCC exhibits distinct ERAD requirements, which correlate with its transmembrane topology and distinguish it from other clients PMID: 22027832
47. Data show that K1169E lost its inhibitory effect on NCC surface expression compared to wild-type WNK4 when expressed in HEK293 cells, while it did not change NCC total protein expression. PMID: 21196779
48. findings suggest that rs7204044 of TSC is a genetic factor for essential hypertension (EH) in Mongolian and Han populations and that rs13306673 is a genetic factor for EH in the Han population PMID: 21644207
49. there was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in Mongolian and Han populations in Inner Mongolia PMID: 21644212
50. In adult patients referred for renal hypokalaemia, we confirmed the presence of mutations of the SLC12A3 gene in 80% of cases PMID: 21753071

显示更多

收起更多

HGNC: 10912

OMIM: 263800

KEGG: hsa:6559

STRING: 9606.ENSP00000402152

UniGene: Hs.669115