Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I-Reference-Cited by-同舟云学术

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Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I

Published:2019-02-21 Issue:3 Volume:64 Page:708-718
ISSN:1355-008X
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Han Yue,Zhao Xiangzhong,Wang Sai,Wang Cui,Tian Dongxu,Lang Yanhua,Bottillo Irene,Wang Xinsheng,Shao Leping

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/article/10.1007/s12020-019-01856-6/fulltext.html

Reference23 articles.

1. N. Matsunoshita, K. Nozu, A. Shono, Y. Nozu, X.J. Fu, N. Morisada, N. Kamiyoshi, H. Ohtsubo, T. Ninchoji, S. Minamikawa, T. Yamamura, K. Nakanishi, N. Yoshikawa, Y. Shima, H. Kaito, K. Iijima, Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet. Med. 18(2), 180–188 (2016)

2. E. Seys, O. Andrini, M. Keck, L. Mansour-Hendili, P.Y. Courand, C. Simian, G. Deschenes, T. Kwon, A. Bertholet-Thomas, G. Bobrie, J.S. Borde, G. Bourdat-Michel, S. Decramer, M. Cailliez, P. Krug, P. Cozette, J.D. Delbet, L. Dubourg, D. Chaveau, M. Fila, N. Jourde-Chiche, B. Knebelmann, M.P. Lavocat, S. Lemoine, D. Djeddi, B. Llanas, F. Louillet, E. Merieau, M. Mileva, L. Mota-Vieira, C. Mousson, F. Nobili, R. Novo, G. Roussey-Kesler, I. Vrillon, S.B. Walsh, J. Teulon, A. Blanchard, R. Vargas-Poussou, Clinical and genetic spectrum of Bartter ssyndrome type 3. J. Am. Soc. Nephrol. 28(8), 2540–2552 (2017)

3. D.B. Simon, F.E. Karet, J.M. Hamdan, A. DiPietro, S.A. Sanjad, R.P. Lifton, Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2. Nat. Genet. 13(2), 183–188 (1996)

4. G.R. Ares, P.S. Caceres, P.A. Ortiz, Molecular regulation of NKCC2 in the thick ascending limb. Am. J. Physiol. Ren. Physiol. 301(6), F1143 (2011)

5. P.G. Starremans, F.F. Kersten, N.V. Knoers, L.P. van den Heuvel, R.J. Bindels, Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J. Am. Soc. Nephrol. 14(6), 1419 (2003)

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping;Nephrology;2024-09-11

2. The biogenesis of potassium transporters: implications of disease-associated mutations;Critical Reviews in Biochemistry and Molecular Biology;2024-07

3. Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report;Frontiers in Pediatrics;2023-03-30

4. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome;Molecular Genetics & Genomic Medicine;2023-01-03

5. Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay;Frontiers in Genetics;2022-08-25

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