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SLC12A3 encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. Zusätzlich bieten wir Ihnen Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 Antikörper (85) und Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige TNNC1 ELISA Kits)) 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 (zeige TNNC1 ELISA Kits) and pNCC increased significantly in males to levels not different from those in females.
NCC1 (zeige CCL13 ELISA Kits)/2, NCC1 (zeige CCL13 ELISA Kits)-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 (zeige WNK3 ELISA Kits) protein (WNK3 (zeige WNK3 ELISA Kits)) 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 (zeige ELMO1 ELISA Kits) rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians.
This paper identified a novel SLC12A3 allele in Gitelman syndrome that activates a cryptic exon flanked by interspersed repeats deep in intron 12.
SLC12A3 gene homozygous mutation is associated with Gitelman syndrome.
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 (zeige WNK4 ELISA Kits)-SPAK (zeige STK39 ELISA Kits) signal pathway using WNK4 (zeige WNK4 ELISA Kits)-/- and SPAK (zeige STK39 ELISA Kits)-/- mice.
The Role of Epithelial Sodium Channel ENaC (zeige SCNN1A ELISA Kits) and the Apical Cl-/HCO3- Exchanger Pendrin (zeige SLC26A4 ELISA Kits) in Compensatory Salt Reabsorption in the Setting of Na-Cl Cotransporter (NCC) Inactivation.
This study identifies NCC as an IL18 (zeige IL18 ELISA Kits)-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 (zeige LEPR ELISA Kits) mice from 6, 12, and 26 weeks at the age.
SPAK (zeige STK39 ELISA Kits)-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 (zeige CA2 ELISA Kits)+) absorption as well as osteoblast differentiation and bone Ca(2 (zeige CA2 ELISA Kits)+) storage, possibly through a FAK (zeige PTK2 ELISA Kits)/ERK (zeige EPHB2 ELISA Kits) dependent mechanism
P2Y2 (zeige P2RY2 ELISA Kits)-mediated increase of cytoplasmic Ca(2 (zeige CA2 ELISA Kits)+) 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