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SLC12A3 encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. 再加上，我们可以发Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 抗体 (85) 和 Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 蛋白 (11)和数多这个蛋白质的别的产品。
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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.
Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome.
Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome.
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.
MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC.
In wild-type, total (tNCC (显示 TNNC1 ELISA试剂盒)) 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 (显示 TNNC1 ELISA试剂盒) and pNCC increased significantly in males to levels not different from those in females.
NCC1 (显示 CCL13 ELISA试剂盒)/2, NCC1 (显示 CCL13 ELISA试剂盒)-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.
Data show that WNK lysine deficient protein kinase 3 (显示 WNK3 ELISA试剂盒) protein (WNK3 (显示 WNK3 ELISA试剂盒)) interacts with NCC and increases the Na-Cl cotransporter (NCC) expression on the cell membrane and in cytoplasm together.
variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population.
A significant association of the SLC12A3 rs11643718 and ELMO1 (显示 ELMO1 ELISA试剂盒) rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians.
Calcineurin is activated by an acute potassium load, which rapidly dephosphorylates NCC, leading to increased urinary potassium excretion.
long-term aldosterone administration stimulates mouse NCC and pT58-NCC abundances in late distal convoluted kidney tubules.
Potassium depletion stimulates NCC via phosphorylation and inactivation of the KLHL3 and promoting increased blood pressure.
the increased NCC expression and activation is present in CMA which is highly associated with the enhanced WNK4 (显示 WNK4 ELISA试剂盒)-SPAK (显示 STK39 ELISA试剂盒) signal pathway using WNK4 (显示 WNK4 ELISA试剂盒)-/- and SPAK (显示 STK39 ELISA试剂盒)-/- mice.
The Role of Epithelial Sodium Channel ENaC (显示 SCNN1A ELISA试剂盒) and the Apical Cl-/HCO3- Exchanger Pendrin (显示 SLC26A4 ELISA试剂盒) in Compensatory Salt Reabsorption in the Setting of Na-Cl Cotransporter (NCC) Inactivation.
This study identifies NCC as an IL18 (显示 IL18 ELISA试剂盒)-binding protein that collaborates with IL18r in cell signaling, inflammatory molecule expression, and experimental atherogenesis.
Slc12a3 mRNA and protein expression levels were upregulated in kidneys of db/db (显示 LEPR ELISA试剂盒) mice from 6, 12, and 26 weeks at the age.
SPAK (显示 STK39 ELISA试剂盒)-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.
NCC inhibition stimulates duodenal Ca(2 (显示 CA2 ELISA试剂盒)+) absorption as well as osteoblast differentiation and bone Ca(2 (显示 CA2 ELISA试剂盒)+) storage, possibly through a FAK (显示 PTK2 ELISA试剂盒)/ERK (显示 EPHB2 ELISA试剂盒) dependent mechanism
P2Y2 (显示 P2RY2 ELISA试剂盒)-mediated increase of cytoplasmic Ca(2 (显示 CA2 ELISA试剂盒)+) concentration down-regulates the expression of NCC.
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.
solute carrier family 12 (sodium/chloride transporters), member 3
, thiazide-sensitive sodium chloride cotransporter
, solute carrier family 12 (sodium/chloride transporters), member 3, gene 2
, solute carrier family 12 member 3-like
, Na-Cl cotransporter
, Na-Cl symporter
, NaCl electroneutral thiazide-sensitive cotransporter
, solute carrier family 12 member 3
, thiazide-sensitive Na-Cl cotransporter
, thiazide-sensitive sodium-chloride cotransporter
, solute carrier family 12, member 3
, sodium chloride cotransporter