| From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters. | From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters.
Gamba G., Free PMC Article | 02/14/2024 |
| Spectrum of variants in a large Chinese Gitelman syndrome cohort. | Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L, Tang M, Zhu L, Lin W, Gu Y. | 01/3/2024 |
| Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome. | Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Ying Q, Ye Z, Zhang W, Pan Y, Dai L, Lin K, Feng X, Dong X, He F. | 10/10/2023 |
| Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report. | Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.
Bi Y, Kuang MY, Li ML., Free PMC Article | 09/19/2023 |
| Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. | Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Shi X, Wang H, Zhang R, Liu Z, Guo W, Wang S, Liu X, Lang Y, Bottillo I, Dong B, Shao L., Free PMC Article | 04/14/2023 |
| Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma. | Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma.
Yan C, Hu X, Liu X, Zhao J, Le Z, Feng J, Zhou M, Ma X, Zheng Q, Sun J. | 03/22/2023 |
| Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter. | Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.
Fan M, Zhang J, Lee CL, Zhang J, Feng L., Free PMC Article | 02/25/2023 |
| R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome. | R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Li Z, Wu H, Wei S, Liu M, Shi Y, Li M, Wang N, Fang L, Xiang B, Gao L, Xu C, Zhao J. | 01/21/2023 |
| Multiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia. | Multiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia.
Murillo-de-Ozores AR, Carbajal-Contreras H, Magaña-Ávila GR, Valdés R, Grajeda-Medina LI, Vázquez N, Zariñán T, López-Saavedra A, Sharma A, Lin DH, Wang WH, Delpire E, Ellison DH, Gamba G, Castañeda-Bueno M., Free PMC Article | 10/29/2022 |
| Detecting pathogenic deep intronic variants in Gitelman syndrome. | Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R, Horinouchi T, Sakakibara N, Yamamura T, Nagano C, Ishiko S, Aoto Y, Kondo A, Nagai S, Awano H, Nagase H, Matsuo M, Iijima K, Nozu K. | 08/20/2022 |
| RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas. | RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas.
Zhao L, Yang KQ, Fan P, Gong DX, Zhang L, Lu YT, Meng X, Zhou XL., Free PMC Article | 06/11/2022 |
| Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome. | Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Wang F, Guo M, Li J, Ma S. | 03/19/2022 |
| Soluble (Pro)Renin Receptor as a Negative Regulator of NCC (Na(+)-Cl(-) Cotransporter) Activity. | Soluble (Pro)Renin Receptor as a Negative Regulator of NCC (Na(+)-Cl(-) Cotransporter) Activity.
Xu C, Chen Y, Wang F, Xie S, Yang T., Free PMC Article | 01/15/2022 |
| Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes. | Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.
Dong B, Chen Y, Liu X, Wang Y, Wang F, Zhao Y, Sun X, Zhao W., Free PMC Article | 12/18/2021 |
| Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome. | Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.
Zheng X, Shang S, Cai G, Chen X, Li Q. | 12/4/2021 |
| [Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome]. | [Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome].
Zhang M, Huang L, Jiang X, Lyu L, Zhao Y, Zhong Y, Gao L. | 11/22/2021 |
| The single nucleotide polymorphism rs11643718 in SLC12A3 is associated with the development of diabetic kidney disease in Chinese people with type 2 diabetes. | The single nucleotide polymorphism rs11643718 in SLC12A3 is associated with the development of diabetic kidney disease in Chinese people with type 2 diabetes.
Yang JF, Xiong XF, Xiao Y, Wei L, Li L, Yang M, Han YC, Zhao H, Li CR, Jiang N, Xiong S, Zeng LF, Zhou ZG, Liu SP, Wang NS, Fan Y, Sun L., Free PMC Article | 10/30/2021 |
| Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium. | Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
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., Free PMC Article | 09/25/2021 |
| Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations. | Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
Zhang JH, Ruan DD, Hu YN, Ruan XL, Zhu YB, Yang X, Wu JB, Lin XF, Luo JW, Tang FQ., Free PMC Article | 09/25/2021 |
| Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. | Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree.
Mou L, Wu F., Free PMC Article | 08/7/2021 |
| A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review. | A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.
Yang M, Dong Y, Tian J, Yan L, Chen Y, Qiu H, Liu W, Hu Y. | 07/10/2021 |
| A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome. | A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.
Wang X, Ding Y, Liu Q, Yang G. | 07/10/2021 |
| [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome]. | [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].
Ma Q, Wu J, Che L, Kong X. | 01/9/2021 |
| Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review. | Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review.
De la Cruz-Cano E, Jiménez-González CDC, Morales-García V, Pineda-Pérez C, Tejas-Juárez JG, Rendón-Gandarilla FJ, Jiménez-Morales S, Díaz-Gandarilla JA., Free PMC Article | 10/24/2020 |
| However, diagnosis of hyperglycemia in GS patients has not been thoroughly investigated, and family studies on SLC12A3 mutations and glucose metabolism are rare. Whether treatment including potassium and magnesium supplements, and spironolactone can ameliorate impaired glucose tolerance in GS patients, also needs to be investigated. | Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He G, Gang X, Sun Z, Wang P, Wang G, Guo W., Free PMC Article | 08/12/2020 |