PMC Links for GEO Profiles (Select 131944978) - PMC

Adrián R. Murillo-de-Ozores, Héctor Carbajal-Contreras, Germán R. Magaña-Ávila, Raquel Valdés, Leoneli I. Grajeda-Medina, Norma Vázquez, Teresa Zariñán, Alejandro López-Saavedra, Avika Sharma, Dao-Hong Lin, Wen-Hui Wang, Eric Delpire, David H. Ellison, Gerardo Gamba, María Castañeda-Bueno

Kidney Int. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Kidney Int. 2022 Nov; 102(5): 1030–1041. Published online 2022 Jul 21. doi: 10.1016/j.kint.2022.06.027

PMCID:: PMC10411384

Abstract Article PDF–3.6M

Select item 100940944.

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

Abstract Article PDF–6.4M

Select item 100303525.

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

Abstract Article PDF–6.0M

Select item 96457306.

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

Abstract Article PDF–5.5M

Select item 92122137.

Soluble (Pro)Renin Receptor as a Negative Regulator of NCC Activity

Chuanming Xu, Yanting Chen, Fei Wang, Shiying Xie, Tianxin Yang

Hypertension. Author manuscript; available in PMC 2022 Sep 8.

Published in final edited form as: Hypertension. 2021 Sep; 78(4): 1027–1038. Published online 2021 Sep 8. doi: 10.1161/HYPERTENSIONAHA.121.16981

PMCID:: PMC9212213

Abstract Article PDF–1.6M

Select item 91789948.

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

Abstract Article PDF–389K

Select item 91409069.

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Lin Zhao, Kun-Qi Yang, Peng Fan, Ding-Xu Gong, Lin Zhang, Yi-Ting Lu, Xu Meng, Xian-Liang Zhou

Genes (Basel) 2022 May; 13(5): 864. Published online 2022 May 12. doi: 10.3390/genes13050864

PMCID:: PMC9140906

Abstract Article PDF–3.3M

Select item 816503010.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

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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

Abstract Article PDF–3.1M

Select item 799942312.

Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree

Lijun Mou, Fengfen Wu

Genes (Basel) 2021 Mar; 12(3): 369. Published online 2021 Mar 5. doi: 10.3390/genes12030369

PMCID:: PMC7999423

Abstract Article PDF–2.1M

Select item 792017113.

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

Abstract Article

Select item 758924614.

The single nucleotide polymorphism rs11643718 in SLC12A3 is associated with the development of diabetic kidney disease in Chinese people with type 2 diabetes

J.‐F. Yang, X.‐F. Xiong, Y. Xiao, L. Wei, L. Li, M. Yang, Y.‐C. Han, H. Zhao, C.‐R. Li, N. Jiang, S. Xiong, L.‐F. Zeng, Z.‐G. Zhou, S.‐P. Liu, N.‐S. Wang, Y. Fan, L. Sun

Diabet Med. 2020 Nov; 37(11): 1879–1889. Published online 2020 Jul 23. doi: 10.1111/dme.14364

PMCID:: PMC7589246

Abstract Article PDF–1.7M

Select item 740950715.

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

Abstract Article PDF–1.3M

Select item 737358116.

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

Abstract Article PDF–377K

Select item 681947117.

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

Abstract Article PDF–1.1M

Select item 674716918.

Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population

Zheng Li, Tianyu Zhao, Xiaohua Tan, Song Lei, Liu Huang, Lei Yang

Int J Environ Res Public Health. 2019 Sep; 16(17): 3207. Published online 2019 Sep 2. doi: 10.3390/ijerph16173207

PMCID:: PMC6747169

Abstract Article PDF–708K

Select item 670308919.

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

Abstract Article PDF–1.2M

Select item 668372320.

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

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