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Items: 1 to 20 of 59

1.
Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report
Ye Bi, Ming-Yang Kuang, Ming-Long Li
Medicine (Baltimore) 2023 Sep 1; 102(35): e34967. Published online 2023 Sep 1. doi: 10.1097/MD.0000000000034967
PMCID:
PMC10476831
AbstractArticlePDF–561K
2.
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Mol Genet Genomic Med. 2023 Apr; 11(4): e2128. Published online 2023 Jan 3. doi: 10.1002/mgg3.2128
PMCID:
PMC10094094
AbstractArticlePDF–6.4M
3.
Structure and thiazide inhibition mechanism of human Na–Cl cotransporter
Minrui Fan, Jianxiu Zhang, Chien-Ling Lee, Jinru Zhang, Liang Feng
Nature. Author manuscript; available in PMC 2023 Aug 15.
Published in final edited form as: Nature. 2023 Feb; 614(7949): 788–793. Published online 2023 Feb 15. doi: 10.1038/s41586-023-05718-0
PMCID:
PMC10030352
AbstractArticlePDF–6.0M
4.
Cryo-EM structure of the human sodium-chloride cotransporter NCC
Jing Nan, Yafei Yuan, Xuemei Yang, Ziyang Shan, Huihui Liu, Feiwen Wei, Wei Zhang, Yanqing Zhang
Sci Adv. 2022 Nov; 8(45): eadd7176. Published online 2022 Nov 9. doi: 10.1126/sciadv.add7176
PMCID:
PMC9645730
AbstractArticlePDF–5.5M
5.
A novel mutation of SLC12A3 gene causing Gitelman syndrome
Neomal De Silva, Sivatharshya Pathmanathan, Manilka Sumanatilleke, Chinthana Dematapitiya, Preethi Dissanayake, Umesha Wijenayake, Vindya Subasinghe, Vajira Dissanayake
SAGE Open Med Case Rep. 2022; 10: 2050313X221102294. Published online 2022 Jun 7. doi: 10.1177/2050313X221102294
PMCID:
PMC9178994
AbstractArticlePDF–389K
6.
Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
Jian-hui Zhang, Dan-dan Ruan, Ya-nan Hu, Xing-lin Ruan, Yao-bin Zhu, Xiao Yang, Jia-bin Wu, Xin-fu Lin, Jie-wei Luo, Fa-qiang Tang
Biomed Res Int. 2021; 2021: 9973161. Published online 2021 May 10. doi: 10.1155/2021/9973161
PMCID:
PMC8128541
AbstractArticlePDF–3.1M
7.
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium
Xuesi Wan, James Perry, Haichen Zhang, Feng Jin, Kathleen A. Ryan, Cristopher Van Hout, Jeffrey Reid, John Overton, Aris Baras, Zhe Han, Elizabeth Streeten, Yanbing Li, Braxton D. Mitchell, Alan R. Shuldiner, Mao Fu, on behalf of the Regeneron Genetics Center
J Am Soc Nephrol. 2021 Mar; 32(3): 756–765. Published online 2021 Feb 4. doi: 10.1681/ASN.2020071030
PMCID:
PMC7920171
AbstractArticle
8.
Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
Bingzi Dong, Ying Chen, Xinying Liu, Yangang Wang, Fang Wang, Yuhang Zhao, Xiaofang Sun, Wenjuan Zhao
BMC Nephrol. 2020; 21: 328. Published online 2020 Aug 5. doi: 10.1186/s12882-020-01996-2
PMCID:
PMC7409507
AbstractArticlePDF–1.3M
9.
Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report
Guangyu He, Xiaokun Gang, Zhonghua Sun, Ping Wang, Guixia Wang, Weiying Guo
Medicine (Baltimore) 2020 Jul 17; 99(29): e21123. Published online 2020 Jul 17. doi: 10.1097/MD.0000000000021123
PMCID:
PMC7373581
AbstractArticlePDF–377K
10.
Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review
Eduardo De la Cruz-Cano, Cristina del C. Jiménez-González, Vicente Morales-García, Conny Pineda-Pérez, Juan G. Tejas-Juárez, Francisco J. Rendón-Gandarilla, Silvia Jiménez-Morales, José A. Díaz-Gandarilla
BMC Nephrol. 2019; 20: 393. Published online 2019 Oct 28. doi: 10.1186/s12882-019-1590-9
PMCID:
PMC6819471
AbstractArticlePDF–1.1M
11.
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome
Yanmei Zeng, Ping Li, Shu Fang, Chunyan Wu, Yudan Zhang, Xiaochun Lin, Meiping Guan
Med Sci Monit. 2019; 25: 5942–5952. Published online 2019 Aug 9. doi: 10.12659/MSM.916069
PMCID:
PMC6703089
AbstractArticlePDF–1.2M
12.
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study
Anne Blanchard, Marion Vallet, Laurence Dubourg, Marguerite Hureaux, Julien Allard, Jean-Philippe Haymann, Renaud de la Faille, Armelle Arnoux, Aurelie Dinut, Damien Bergerot, Pierre-Hadrien Becker, Pierre-Yves Courand, Stéphanie Baron, Pascal Houillier, Ivan Tack, Olivier Devuyst, Xavier Jeunemaitre, Michel Azizi, Rosa Vargas-Poussou
J Am Soc Nephrol. 2019 Aug; 30(8): 1534–1545. Published online 2019 Jul 8. doi: 10.1681/ASN.2019010031
PMCID:
PMC6683723
AbstractArticle
13.
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome
F. Zhong, H. Ying, W. Jia, X. Zhou, H. Zhang, Q. Guan, J. Xu, L. Fang, J. Zhao, C. Xu
J Endocrinol Invest. 2019; 42(6): 653–665. Published online 2018 Nov 10. doi: 10.1007/s40618-018-0966-1
PMCID:
PMC6531408
AbstractArticlePDF–2.8M
14.
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
Xiangchen Gu, Zheling Su, Min Chen, Yanqiu Xu, Yi Wang
Nephrology (Carlton) 2017 Aug; 22(8): 652–655. Published online 2017 Jul 6. doi: 10.1111/nep.13045
PMCID:
PMC6099516
AbstractArticlePDF–460K
15.
Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su
Lipids Health Dis. 2018; 17: 83. Published online 2018 Apr 16. doi: 10.1186/s12944-018-0737-1
PMCID:
PMC5902855
AbstractArticlePDF–646K
16.
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li
BMC Med Genet. 2018; 19: 17. Published online 2018 Jan 29. doi: 10.1186/s12881-018-0527-7
PMCID:
PMC5789536
AbstractArticlePDF–1.4M
17.
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BMC Nephrol. 2017; 18: 140. Published online 2017 Apr 26. doi: 10.1186/s12882-017-0563-0
PMCID:
PMC5406964
AbstractArticlePDF–610K
18.
SLC12A3 variants modulate LDL cholesterol levels in the Mongolian population
Caiyan An, Kejin Zhang, Xiulan Su
Lipids Health Dis. 2017; 16: 29. Published online 2017 Feb 6. doi: 10.1186/s12944-017-0413-x
PMCID:
PMC5294767
AbstractArticlePDF–403K
19.
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings
Pieter Du Toit van der Merwe, Megan A. Rensburg, William L. Haylett, Soraya Bardien, M. Razeen Davids
BMC Nephrol. 2017; 18: 38. Published online 2017 Jan 26. doi: 10.1186/s12882-017-0455-3
PMCID:
PMC5270235
AbstractArticlePDF–1.4M
20.
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome
Y. Zhang, F. Zhang, D. Chen, Q. Lü, L. Tang, C. Yang, M. Lei, N. Tong
Braz J Med Biol Res. 2016; 49(11): e5261. Published online 2016 Oct 24. doi: 10.1590/1414-431X20165261
PMCID:
PMC5089230
AbstractArticlePDF–474K

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