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For: Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O; Belgian Network for Study of Gitelman Syndrome. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol. 2007;18:1271-1283. [PMID: 17329572 DOI: 10.1681/asn.2006101095] [Cited by in Crossref: 100] [Cited by in F6Publishing: 38] [Article Influence: 6.7] [Reference Citation Analysis]
Number Citing Articles
1 Chen SY, Jie N. Gitelman syndrome: A case report. World J Clin Cases 2022; 10(17): 5893-5898 [DOI: 10.12998/wjcc.v10.i17.5893] [Reference Citation Analysis]
2 Ravarotto V, Bertoldi G, Stefanelli LF, Gobbi L, Calò LA. Molecular aspects of the altered Angiotensin II signalling in Gitelman’s syndrome. Expert Opinion on Orphan Drugs. [DOI: 10.1080/21678707.2022.2066996] [Reference Citation Analysis]
3 Yan MT, Yang SS, Tseng MH, Cheng CJ, Tsai JD, Sung CC, Hsu YJ, Lin SH. Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome. NPJ Genom Med 2021;6:68. [PMID: 34389731 DOI: 10.1038/s41525-021-00230-8] [Reference Citation Analysis]
4 Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G. Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. J Nephrol 2021. [PMID: 33964006 DOI: 10.1007/s40620-021-01048-4] [Reference Citation Analysis]
5 Meor Azlan NF, Koeners MP, Zhang J. Regulatory control of the Na-Cl co-transporter NCC and its therapeutic potential for hypertension. Acta Pharm Sin B 2021;11:1117-28. [PMID: 34094823 DOI: 10.1016/j.apsb.2020.09.009] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 7.0] [Reference Citation Analysis]
6 Zhang L, Huang K, Wang S, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, Dong G, Mao J. Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome. Front Pediatr 2021;9:544925. [PMID: 33996672 DOI: 10.3389/fped.2021.544925] [Reference Citation Analysis]
7 Mou L, Wu F. Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. Genes (Basel) 2021;12:369. [PMID: 33807568 DOI: 10.3390/genes12030369] [Reference Citation Analysis]
8 Wan X, Perry J, Zhang H, Jin F, Ryan KA, Van Hout C, Reid J, Overton J, Baras A, Han Z, Streeten E, Li Y, Mitchell BD, Shuldiner AR, Fu M; Regeneron Genetics Center. Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium. J Am Soc Nephrol 2021;32:756-65. [PMID: 33542107 DOI: 10.1681/ASN.2020071030] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Kamejima S, Yamamoto I, Tajiri A, Tanno Y, Ohkido I, Yokoo T. Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene. Intern Med 2021;60:1567-72. [PMID: 33328404 DOI: 10.2169/internalmedicine.5977-20] [Reference Citation Analysis]
10 Dong B, Chen Y, Liu X, Wang Y, Wang F, Zhao Y, Sun X, Zhao W. Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes. BMC Nephrol 2020;21:328. [PMID: 32758178 DOI: 10.1186/s12882-020-01996-2] [Reference Citation Analysis]
11 Tang W, Huang X, Liu Y, Lv Q, Li T, Song Y, Zhang X, Chen X, Shi Y. A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress. J Endocrinol Invest 2021;44:471-80. [PMID: 32642858 DOI: 10.1007/s40618-020-01329-y] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Raimondo F, Chinello C, Porcaro L, Magni F, Pitto M. Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach. Proteomes 2020;8:9. [PMID: 32397528 DOI: 10.3390/proteomes8020009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
13 Chirackal RS, Jayachandran M, Wang X, Edeh S, Haskic Z, Perinpam M, Halling TM, Mehta R, Rivera ME, Lieske JC. Urinary extracellular vesicle-associated MCP-1 and NGAL derived from specific nephron segments differ between calcium oxalate stone formers and controls. Am J Physiol Renal Physiol 2019;317:F1475-82. [PMID: 31461349 DOI: 10.1152/ajprenal.00515.2018] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
14 Rapoport RM, Soleimani M. Mechanism of Thiazide Diuretic Arterial Pressure Reduction: The Search Continues. Front Pharmacol 2019;10:815. [PMID: 31543812 DOI: 10.3389/fphar.2019.00815] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
15 Yang LY, Yin JH, Yang J, Ren Y, Xiang CY, Wang CY. Liquorice-induced severe hypokalemic rhabdomyolysis with Gitelman syndrome and diabetes: A case report. World J Clin Cases 2019; 7(10): 1200-1205 [PMID: 31183353 DOI: 10.12998/wjcc.v7.i10.1200] [Cited by in CrossRef: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
16 Lü Q, Dong Y, Wan H, Zhang Y, Tang L, Zhang F, Yan Z, Tong N. Consideration of the diagnosis of hypertension accompanied with hypokalaemia: monism or dualism? J Int Med Res 2018;46:2944-53. [PMID: 29808706 DOI: 10.1177/0300060518768154] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
17 Chen Y, Zhang Z, Lin X, Pan Q, Zheng F, Li H. A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. BMC Med Genet. 2018;19:17. [PMID: 29378538 DOI: 10.1186/s12881-018-0527-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
18 Joshi A, Siva C. Magnesium disorders can cause calcium pyrophosphate deposition disease: A case report and literature review. Eur J Rheumatol 2018;5:53-7. [PMID: 29657876 DOI: 10.5152/eurjrheum.2017.16116] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
19 Elkoundi A, Kartite N, Bensghir M, Doghmi N, Lalaoui SJ. Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barré syndrome during pregnancy and review of the literature. Clin Case Rep 2017;5:1597-603. [PMID: 29026553 DOI: 10.1002/ccr3.1122] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
20 Xia MF, Bian H, Liu H, Wu HJ, Zhang ZG, Lu ZQ, Gao X. Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. Clin Case Rep. 2017;5:578-586. [PMID: 28469853 DOI: 10.1002/ccr3.874] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
21 Grillone T, Menniti M, Bombardiere F, Vismara MFM, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. New SLC12A3 disease causative mutation of Gitelman’s syndrome. World J Nephrol 2016; 5(6): 551-555 [PMID: 27872838 DOI: 10.5527/wjn.v5.i6.551] [Cited by in CrossRef: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
22 Zhang Y, Zhang F, Chen D, Lü Q, Tang L, Yang C, Lei M, Tong N. A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. Braz J Med Biol Res 2016;49:e5261. [PMID: 27783806 DOI: 10.1590/1414-431X20165261] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
23 Santos F, Gil-peña H, Blázquez C, Coto E. Gitelman syndrome: a review of clinical features, genetic diagnosis and therapeutic management. Expert Opinion on Orphan Drugs 2016;4:1005-9. [DOI: 10.1080/21678707.2016.1223542] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
24 Acelajado MC, Culpepper RM, Bolton Iii WD. Hyperemesis Gravidarum in Undiagnosed Gitelman's Syndrome. Case Rep Med 2016;2016:2407607. [PMID: 27579038 DOI: 10.1155/2016/2407607] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
25 Lee JW, Lee J, Heo NJ, Cheong HI, Han JS. Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. J Korean Med Sci. 2016;31:47-54. [PMID: 26770037 DOI: 10.3346/jkms.2016.31.1.47] [Cited by in Crossref: 20] [Cited by in F6Publishing: 11] [Article Influence: 2.9] [Reference Citation Analysis]
26 Lü Q, Zhang Y, Song C, An Z, Wei S, Huang J, Huang L, Tang L, Tong N. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. J Endocrinol Invest 2016;39:333-40. [PMID: 26260218 DOI: 10.1007/s40618-015-0371-y] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 2.3] [Reference Citation Analysis]
27 Takeuchi Y, Mishima E, Shima H, Akiyama Y, Suzuki C, Suzuki T, Kobayashi T, Suzuki Y, Nakayama T, Takeshima Y, Vazquez N, Ito S, Gamba G, Abe T. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. J Am Soc Nephrol. 2015;26:271-279. [PMID: 25060058 DOI: 10.1681/asn.2013091013] [Cited by in Crossref: 23] [Cited by in F6Publishing: 15] [Article Influence: 2.9] [Reference Citation Analysis]
28 Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet 2014;383:1844-59. [PMID: 24856029 DOI: 10.1016/S0140-6736(14)60659-0] [Cited by in Crossref: 123] [Cited by in F6Publishing: 63] [Article Influence: 15.4] [Reference Citation Analysis]
29 Larkins N, Wallis M, McGillivray B, Mammen C. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. Clin Kidney J 2014;7:306-10. [PMID: 25852896 DOI: 10.1093/ckj/sfu029] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
30 Thorn CF, Ellison DH, Turner ST, Altman RB, Klein TE. PharmGKB summary: Diuretics pathway, pharmacodynamics. Pharmacogenet Genomics 2013;23:449-53. [PMID: 23788015 DOI: 10.1097/FPC.0b013e3283636822] [Cited by in Crossref: 2] [Article Influence: 0.3] [Reference Citation Analysis]
31 Koçkara AŞ, Candan F, Hüzmeli C, Kayataş M, Alaygut D. Gitelman's syndrome associated with chondrocalcinosis: a case report. Ren Fail 2013;35:1285-8. [PMID: 24021031 DOI: 10.3109/0886022X.2013.824380] [Cited by in Crossref: 4] [Article Influence: 0.4] [Reference Citation Analysis]
32 Yang SS, Fang YW, Tseng MH, Chu PY, Yu IS, Wu HC, Lin SW, Chau T, Uchida S, Sasaki S, Lin YF, Sytwu HK, Lin SH. Phosphorylation regulates NCC stability and transporter activity in vivo. J Am Soc Nephrol 2013;24:1587-97. [PMID: 23833262 DOI: 10.1681/ASN.2012070742] [Cited by in Crossref: 34] [Cited by in F6Publishing: 20] [Article Influence: 3.8] [Reference Citation Analysis]
33 Raza F, Sultan M, Qamar K, Jawad A, Jawa A. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report. J Med Case Rep 2012;6:331. [PMID: 23031616 DOI: 10.1186/1752-1947-6-331] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
34 Sinha A, Lněnička P, Basu B, Gulati A, Hari P, Bagga A. Gitelman syndrome: novel mutation and long-term follow-up. Clin Exp Nephrol 2012;16:306-9. [PMID: 21964762 DOI: 10.1007/s10157-011-0542-x] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.0] [Reference Citation Analysis]
35 Rim PC, Keith MP. Chondrocalcinosis and hypomagnesemia in a 26-year-old woman. J Clin Rheumatol 2011;17:334-5. [PMID: 21869703 DOI: 10.1097/RHU.0b013e31822c55df] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
36 Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011;26:1789-1802. [PMID: 21503667 DOI: 10.1007/s00467-011-1871-4] [Cited by in Crossref: 108] [Cited by in F6Publishing: 89] [Article Influence: 9.8] [Reference Citation Analysis]
37 Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22:693-703. [PMID: 21415153 DOI: 10.1681/asn.2010090907] [Cited by in Crossref: 122] [Cited by in F6Publishing: 53] [Article Influence: 11.1] [Reference Citation Analysis]
38 Knoers NV, Devuyst O, Kamsteeg EJ. Clinical utility gene card for: Gitelman syndrome. Eur J Hum Genet 2011;19. [PMID: 21343949 DOI: 10.1038/ejhg.2011.14] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
39 Quinlan CS, Walsh JC, Moran AM, Moran C, O'Rourke SK. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome. J Bone Joint Surg Br 2011;93:266-8. [PMID: 21282770 DOI: 10.1302/0301-620X.93B2.25700] [Cited by in Crossref: 2] [Article Influence: 0.2] [Reference Citation Analysis]
40 Lo YF, Nozu K, Iijima K, Morishita T, Huang CC, Yang SS, Sytwu HK, Fang YW, Tseng MH, Lin SH. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. Clin J Am Soc Nephrol 2011;6:630-9. [PMID: 21051746 DOI: 10.2215/CJN.06730810] [Cited by in Crossref: 41] [Cited by in F6Publishing: 20] [Article Influence: 3.4] [Reference Citation Analysis]
41 Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol 2010;10:89. [PMID: 20932283 DOI: 10.1186/1471-2377-10-89] [Cited by in Crossref: 39] [Cited by in F6Publishing: 36] [Article Influence: 3.3] [Reference Citation Analysis]
42 Palumbo V, Segat L, Padovan L, Amoroso A, Trimarco B, Izzo R, Lembo G, Regitz-Zagrosek V, Knoll R, Brancaccio M, Tarone G, Crovella S. Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients. BMC Med Genet 2009;10:140. [PMID: 20017903 DOI: 10.1186/1471-2350-10-140] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
43 Gil-Peña H, Mejia N, Alvarez-Garcia O, Loredo V, Santos F. Longitudinal growth in chronic hypokalemic disorders. Pediatr Nephrol 2010;25:733-7. [PMID: 19902272 DOI: 10.1007/s00467-009-1330-7] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 0.8] [Reference Citation Analysis]
44 Knoers NV. Inherited forms of renal hypomagnesemia: an update. Pediatr Nephrol 2009;24:697-705. [PMID: 18818955 DOI: 10.1007/s00467-008-0968-x] [Cited by in Crossref: 37] [Cited by in F6Publishing: 25] [Article Influence: 2.6] [Reference Citation Analysis]
45 Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. [PMID: 18667063 DOI: 10.1186/1750-1172-3-22] [Cited by in Crossref: 132] [Cited by in F6Publishing: 100] [Article Influence: 9.4] [Reference Citation Analysis]
46 Ji W, Foo JN, O’Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008;40:592-599. [PMID: 18391953 DOI: 10.1038/ng.118] [Cited by in Crossref: 598] [Cited by in F6Publishing: 504] [Article Influence: 42.7] [Reference Citation Analysis]