Associated Papers
HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.
Martínez-Romero MC et al.
Genes, 2024
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
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.
Seker M et al.
International Journal of Molecular Sciences, 2019
A Novel Claudinopathy Based on Claudin-10 Mutations.
Milatz S
International Journal of Molecular Sciences, 2019
Novel Aspects of Renal Magnesium Homeostasis.
Giménez-Mascarell P et al.
Frontiers in Pediatrics, 2018
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
Klar J et al.
Plos Genetics, 2017
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A et al.
European Journal of Human Genetics : Ejhg, 2002
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