126 related articles for article (PubMed ID: 20848653)
1. Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.
Yang SS; Lo YF; Yu IS; Lin SW; Chang TH; Hsu YJ; Chao TK; Sytwu HK; Uchida S; Sasaki S; Lin SH
Hum Mutat; 2010 Dec; 31(12):1304-15. PubMed ID: 20848653
[TBL] [Abstract][Full Text] [Related]
2. Double knockout of pendrin and Na-Cl cotransporter (NCC) causes severe salt wasting, volume depletion, and renal failure.
Soleimani M; Barone S; Xu J; Shull GE; Siddiqui F; Zahedi K; Amlal H
Proc Natl Acad Sci U S A; 2012 Aug; 109(33):13368-73. PubMed ID: 22847418
[TBL] [Abstract][Full Text] [Related]
3. Inhibition of AT2R and Bradykinin Type II Receptor (BK2R) Compromises High K
Gu L; Wang J; Zhang DD; Meng X; Zhang Y; Zhang J; Zhang H; Guo X; Lin DH; Wang WH; Gu RM
Hypertension; 2020 Feb; 75(2):439-448. PubMed ID: 31865783
[TBL] [Abstract][Full Text] [Related]
4. Navigating the multifaceted intricacies of the Na
Rioux AV; Nsimba-Batomene TR; Slimani S; Bergeron NAD; Gravel MAM; Schreiber SV; Fiola MJ; Haydock L; Garneau AP; Isenring P
Physiol Rev; 2024 Jul; 104(3):1147-1204. PubMed ID: 38329422
[TBL] [Abstract][Full Text] [Related]
5. Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome.
Mohan R; Dhotare SV; Unnikrishnan PN; Jakaraddi C
BMJ Case Rep; 2020 Jan; 13(1):. PubMed ID: 31915182
[TBL] [Abstract][Full Text] [Related]
6. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B; Yntema HG; San-Cristobal P; Schoots J; Pfundt R; Kamsteeg EJ; Bindels RJ; Knoers NV; Hoenderop JG; Hoefsloot LH
Eur J Hum Genet; 2012 Mar; 20(3):263-70. PubMed ID: 22009145
[TBL] [Abstract][Full Text] [Related]
7. Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
Wang L; Dong C; Xi YG; Su X
Acta Biochim Biophys Sin (Shanghai); 2015 May; 47(5):325-34. PubMed ID: 25841442
[TBL] [Abstract][Full Text] [Related]
8. Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
Corbetta S; Raimondo F; Tedeschi S; Syrèn ML; Rebora P; Savoia A; Baldi L; Bettinelli A; Pitto M
Nephrol Dial Transplant; 2015 Apr; 30(4):621-30. PubMed ID: 25422309
[TBL] [Abstract][Full Text] [Related]
9. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.
Lo YF; Nozu K; Iijima K; Morishita T; Huang CC; Yang SS; Sytwu HK; Fang YW; Tseng MH; Lin SH
Clin J Am Soc Nephrol; 2011 Mar; 6(3):630-9. PubMed ID: 21051746
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura J; Nozu K; Yamamura T; Minamikawa S; Nakanishi K; Horinouchi T; Nagano C; Sakakibara N; Nakanishi K; Shima Y; Miyako K; Nozu Y; Morisada N; Nagase H; Ninchoji T; Kaito H; Iijima K
Kidney Int Rep; 2019 Jan; 4(1):119-125. PubMed ID: 30596175
[TBL] [Abstract][Full Text] [Related]
11. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH; Yang SS; Hsu YJ; Fang YW; Wu CJ; Tsai JD; Hwang DY; Lin SH
J Clin Endocrinol Metab; 2012 Aug; 97(8):E1478-82. PubMed ID: 22679066
[TBL] [Abstract][Full Text] [Related]
12. Gitelman's syndrome: a pathophysiological and clinical update.
Nakhoul F; Nakhoul N; Dorman E; Berger L; Skorecki K; Magen D
Endocrine; 2012 Feb; 41(1):53-7. PubMed ID: 22169961
[TBL] [Abstract][Full Text] [Related]
13. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
Simon DB; Nelson-Williams C; Bia MJ; Ellison D; Karet FE; Molina AM; Vaara I; Iwata F; Cushner HM; Koolen M; Gainza FJ; Gitleman HJ; Lifton RP
Nat Genet; 1996 Jan; 12(1):24-30. PubMed ID: 8528245
[TBL] [Abstract][Full Text] [Related]
14. A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
Tavira B; Gómez J; Santos F; Gil H; Alvarez V; Coto E
J Hum Genet; 2014 Jul; 59(7):376-80. PubMed ID: 24830959
[TBL] [Abstract][Full Text] [Related]
15. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY; Alipanahi B; Lee LJ; Bretschneider H; Merico D; Yuen RK; Hua Y; Gueroussov S; Najafabadi HS; Hughes TR; Morris Q; Barash Y; Krainer AR; Jojic N; Scherer SW; Blencowe BJ; Frey BJ
Science; 2015 Jan; 347(6218):1254806. PubMed ID: 25525159
[TBL] [Abstract][Full Text] [Related]
16. Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F; Ying H; Jia W; Zhou X; Zhang H; Guan Q; Xu J; Fang L; Zhao J; Xu C
J Endocrinol Invest; 2019 Jun; 42(6):653-665. PubMed ID: 30413979
[TBL] [Abstract][Full Text] [Related]
17. 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
J Korean Med Sci; 2016 Jan; 31(1):47-54. PubMed ID: 26770037
[TBL] [Abstract][Full Text] [Related]
18. Novel Intronic Mutations of the
Xun Z; Gao P; Du Y; Yan X; Yang J; Wang Z
Int J Gen Med; 2023; 16():1797-1806. PubMed ID: 37197138
[TBL] [Abstract][Full Text] [Related]
19. Novel compound heterozygous mutation of
Qin YZ; Liu YM; Wang Y; You C; Li LN; Zhou XY; Lv WM; Hong SH; Xiao LX
World J Clin Cases; 2022 Jul; 10(21):7483-7494. PubMed ID: 36158002
[TBL] [Abstract][Full Text] [Related]
20. Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y; Li P; Fang S; Wu C; Zhang Y; Lin X; Guan M
Med Sci Monit; 2019 Aug; 25():5942-5952. PubMed ID: 31398183
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]