A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome-Reference-Cited by-同舟云学术

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A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome

Published:2021-08 Issue:2 Volume:100 Page:415-429
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Alzahrani Ali S.,Hussein Maged,Alswailem Meshael,Mouna Ahmad,Albalawi Lina,Moria Yosra,Jabbar Mai Abdel,Shi Yufei,Günzel Dorothee,Dasouki Majed

Funder

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Nephrology

Reference27 articles.

1. A Novel hypokalemic-alkalotic salt-losing tubulopathy in patients with CLDN10 mutations;Bongers;J Am Soc Nephrol,2017

2. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage;Klar;PLoS Genet,2017

3. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome;Hadj-Rabia;Genet Med,2018

4. Two splice variants of claudin-10 in the kidney create paracellular pores with different ion selectivities;Van Itallie;Am J Physiol Renal Physiol,2006

5. Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function;Gunzel;J Cell Sci,2009

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. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases;Genes;2024-05-26

2. The role of claudins in renal transepithelial transport and kidney disease;Current Opinion in Nephrology & Hypertension;2024-05-10

3. Altered Sweat Composition Due to Changes in Tight Junction Expression of Sweat Glands in Cholinergic Urticaria Patients;International Journal of Molecular Sciences;2024-04-25

4. Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells;International Journal of Molecular Sciences;2024-04-03

5. Vitamin D and the kidney;Feldman and Pike' s Vitamin D;2024

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