Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 Proteins (SLC12A3)

Human Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) interaction partners

1. the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level.

2. We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1 (show SLC12A1 Proteins), and KCNJ1 (show KCNJ1 Proteins) reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1 (show SLC12A1 Proteins), and KCNJ1 (show KCNJ1 Proteins) are indeed genes protective of hypertension in the general population.

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.

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.

5. Allelic and genotypic frequencies of single nucleotide polymorphism rs11643718 of solute carrier (show SERTAD2 Proteins) family 12 (sodium-chloride transporters), member 3 protein (SLC12A3) gene are associated with the onset of disease hypertension.

6. A new recessive mutation in KLHL3 (show KLHL3 Proteins) (S553L) was identified in familial hyperkalemia and hypertension. Increased urinary NCC was found in affected members (heterozygous) with dominant KLHL3 (show KLHL3 Proteins) Q309R, and in affected members (homozygous) of the recessive form.

7. Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient.

8. 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.

9. Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome.

10. Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome.

Mouse (Murine) Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) interaction partners

1. CD8 (show CD8A Proteins)+ T cells stimulate sodium/chloride co-transporter NCC in distal convoluted tubules leading to salt-sensitive hypertension.

2. Urine output and water intake increased significantly only in pendrin (show SLC26A4 Proteins) KO mice in response to hydrochlorothiazide, but not in WT or NCC KO mice.

3. Calcineurin is activated by an acute potassium load, which rapidly dephosphorylates NCC, leading to increased urinary potassium excretion.

4. long-term aldosterone administration stimulates mouse NCC and pT58-NCC abundances in late distal convoluted kidney tubules.

5. Potassium depletion stimulates NCC via phosphorylation and inactivation of the KLHL3 (show KLHL3 Proteins) and promoting increased blood pressure.

6. the increased NCC expression and activation is present in CMA which is highly associated with the enhanced WNK4 (show WNK4 Proteins)-SPAK (show STK39 Proteins) signal pathway using WNK4 (show WNK4 Proteins)-/- and SPAK (show STK39 Proteins)-/- mice.

7. The Role of Epithelial Sodium Channel ENaC (show SCNN1A Proteins) and the Apical Cl-/HCO3- Exchanger Pendrin (show SLC26A4 Proteins) in Compensatory Salt Reabsorption in the Setting of Na-Cl Cotransporter (NCC) Inactivation.

8. This study identifies NCC as an IL18 (show IL18 Proteins)-binding protein that collaborates with IL18r in cell signaling, inflammatory molecule expression, and experimental atherogenesis.

9. Slc12a3 mRNA and protein expression levels were upregulated in kidneys of db/db (show LEPR Proteins) mice from 6, 12, and 26 weeks at the age.

10. SPAK (show STK39 Proteins)-kinase-deficient mice, which are unable to activate NCC by phosphorylation, use multiple common compensatory mechanisms to blunt natriuresis and chloriuresis and to protect against a major drop in blood pressure.