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    SLC12A3 solute carrier family 12 member 3 [ Homo sapiens (human) ]

    Gene ID: 6559, updated on 9-Oct-2018

    GeneRIFs: Gene References Into Functions

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

    Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population.
    An C, Liang J, Zhang K, Su X., Free PMC Article

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

    Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
    Nandakumar P, Morrison AC, Grove ML, Boerwinkle E, Chakravarti A., Free PMC Article

    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.

    Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus.
    Zhang R, Zhuang L, Li M, Zhang J, Zhao W, Ge X, Chen Y, Wang F, Wang N, Bao Y, Liu L, Liu Y, Jia W.

    The mutations of both Gitelman syndrome pedigrees can be defined as compound heterozygous mutations in SLC12A3, most of which are known as missense mutations.

    Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.
    Luo JW, Meng XR, Yang X, Liang JX, Hong FY, Zheng XY, Li WH.

    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.

    [Association of sodium ion transporter gene polymorphisms with essential hypertension among ethnic Koreans from Mudanjiang].
    Shi J, Zhang C, Bu X, Han Y, Deng D, Song J.

    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.

    Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter.
    Kliuk-Ben Bassat O, Carmon V, Hanukoglu A, Ganon L, Massalha E, Holtzman EJ, Farfel Z, Mayan H.

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

    Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
    Gu X, Su Z, Chen M, Xu Y, Wang Y., Free PMC Article

    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.

    Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
    Subasinghe CJ, Sirisena ND, Herath C, Berge KE, Leren TP, Bulugahapitiya U, Dissanayake VHW., Free PMC Article

    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.

    A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
    Wolyniec W, Jakubowska SK, Nagel M, Wolyniec Z, Obolonczyk L, Swiatkowska-Stodulska R, Sworczak K, Renke M.

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

    Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.
    Ma J, Ren H, Lin L, Zhang C, Wang Z, Xie J, Shen PY, Zhang W, Wang W, Chen XN, Chen N.

    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.

    Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.
    van der Merwe PD, Rensburg MA, Haylett WL, Bardien S, Davids MR., Free PMC Article

    Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome.

    Mutation profile and treatment of Gitelman syndrome in Chinese patients.
    Wang F, Shi C, Cui Y, Li C, Tong A.

    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.

    A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.
    Zhang Y, Zhang F, Chen D, Lü Q, Tang L, Yang C, Lei M, Tong N., Free PMC Article

    MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC.

    Functional assessment of sodium chloride cotransporter NCC mutants in polarized mammalian epithelial cells.
    Rosenbaek LL, Rizzo F, MacAulay N, Staub O, Fenton RA.

    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.

    Gender difference in kidney electrolyte transport. I. Role of AT<sub>1a</sub> receptor in thiazide-sensitive Na<sup>+</sup>-Cl<sup>-</sup> cotransporter activity and expression in male and female mice.
    Li J, Hatano R, Xu S, Wan L, Yang L, Weinstein AM, Palmer L, Wang T., Free PMC Article

    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.

    Hydrochlorothiazide treatment increases the abundance of the NaCl cotransporter in urinary extracellular vesicles of essential hypertensive patients.
    Pathare G, Tutakhel OAZ, van der Wel MC, Shelton LM, Deinum J, Lenders JWM, Hoenderop JGJ, Bindels RJM.

    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.

    WNK3 interacts with NCC.
    Wang D, Pan S, Xu Y, Ye X, Ren X, Zeng Q.

    variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population.

    SLC12A3 variants modulate LDL cholesterol levels in the Mongolian population.
    An C, Zhang K, Su X., Free PMC Article

    A significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians.

    Association of rs11643718 SLC12A3 and rs741301 ELMO1 Variants with Diabetic Nephropathy in South Indian Population.
    Bodhini D, Chidambaram M, Liju S, Revathi B, Laasya D, Sathish N, Kanthimathi S, Ghosh S, Anjana RM, Mohan V, Radha V.

    This paper identified a novel SLC12A3 allele in Gitelman syndrome that activates a cryptic exon flanked by interspersed repeats deep in intron 12.

    Cryptic exon activation in SLC12A3 in Gitelman syndrome.
    Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K.

    SLC12A3 gene homozygous mutation is associated with Gitelman syndrome.

    A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.
    Lü Q, Zhang Y, Song C, An Z, Wei S, Huang J, Huang L, Tang L, Tong N.

    SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population.

    Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population.
    An C, Liang J, Zhang K, Su X.

    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.

    Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
    Lee JW, Lee J, Heo NJ, Cheong HI, Han JS., Free PMC Article

    the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population.

    Association of variants in renal salt reabsorption-related gene SLC12A3 with essential hypertension in a Mongolian population.
    Liang JQ, Xi YG, An CY, Su XL.

    Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney.

    Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling.
    Tutakhel OA, Jeleń S, Valdez-Flores M, Dimke H, Piersma SR, Jimenez CR, Deinum J, Lenders JW, Hoenderop JG, Bindels RJ.

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