Varaico: Literature-Extracted Genetic Variants

Gene:CLDN10
Variant:p.S131L
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CLDN10

NM_006984.5:p.S131L

Associated Papers

The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.

Nguyen TN et al.

Journal of Dental Research, 2026

40717352 (PubMed )
Supplement: sj-docx-1-jdr-10.1177_00220345251349109.docx

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

Martínez-Romero MC et al.

Genes, 2024

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Qudair A et al.

European Journal of Medical Genetics, 2023

Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.

Obtel N et al.

Annals of the New York Academy of Sciences, 2022

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.

Sewerin S et al.

Genes & Diseases, 2022

35873018 (PubMed )
Supplement: mmc1.pdf

Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.

Vargas-Poussou R

Pediatric Nephrology (berlin, Germany), 2022

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

A Novel Claudinopathy Based on Claudin-10 Mutations.

Milatz S

International Journal of Molecular Sciences, 2019

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Meyers N et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Hadj-Rabia S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Novel Aspects of Renal Magnesium Homeostasis.

Giménez-Mascarell P et al.

Frontiers in Pediatrics, 2018

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