| Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. | Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.
Vall-Palomar M, Burballa C, Claverie-Martín F, Meseguer A, Ariceta G. | 02/5/2022 |
| Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1. | Knockdown of Claudin-19 in the Retinal Pigment Epithelium Is Accompanied by Slowed Phagocytosis and Increased Expression of SQSTM1.
Liu F, Peng S, Adelman RA, Rizzolo LJ., Free PMC Article | 07/24/2021 |
| Mutated claudin-19 affects multiple stages of RPE and retinal differentiation through its effects on multiple functions of the RPE. | Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function.
Wang SB, Xu T, Peng S, Singh D, Ghiassi-Nejad M, Adelman RA, Rizzolo LJ., Free PMC Article | 04/18/2020 |
| No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones. | Claudin-14 Gene Polymorphisms and Urine Calcium Excretion.
Arcidiacono T, Simonini M, Lanzani C, Citterio L, Salvi E, Barlassina C, Spotti D, Cusi D, Manunta P, Vezzoli G., Free PMC Article | 12/21/2019 |
| Homozygous CLDN19 mutation is associated with Familial non-syndromic macular pseudocoloboma. | Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO, Patel N, Ghazi NG, Alzahrani SS, Arold ST, Alkuraya FS. | 04/13/2019 |
| Results show that CLDN16 mutation c.602G>A had no effect on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. This study expands the genotypic classification of this rare disease and provides the first report of a CLDN19 mutation affecting splicing. | Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Perdomo-Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos-Trujillo E, RenalTube Group, Claverie-Martin F. | 02/9/2019 |
| permeability barriers and affected cell morphology, proliferation, migration, AKT signaling, and gene expression. When claudins are exogenously expressed, ARPE-19 more closely model native RPE. | Claudin-3 and claudin-19 partially restore native phenotype to ARPE-19 cells via effects on tight junctions and gene expression.
Peng S, Wang SB, Singh D, Zhao PY, Davis K, Chen B, Adelman RA, Rizzolo LJ. | 06/3/2017 |
| CLDN19 genetic mutation is responsible for familial magnesium deficiency with hypercalciuria and nephrocalcinosis. | Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Martin-Nuñez E, Cordoba-Lanus E, Gonzalez-Acosta H, Oliet A, Izquierdo E, Claverie-Martin F. | 05/14/2016 |
| analysis of a novel mutation c.241C>T in exon 2 of CLDN19 in a Chinese patient | First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Yuan T, Pang Q, Xing X, Wang X, Li Y, Li J, Wu X, Li M, Wang O, Jiang Y, Dong J, Xia W. | 12/12/2015 |
| Claudin-19, the most abundant claudin in myelin, exhibited no binding to ZO2 protein. | Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZ₁ domain of zonula occludens.
Wu J, Peng D, Zhang Y, Lu Z, Voehler M, Sanders CR, Li J., Free PMC Article | 06/27/2015 |
| patients with CLDN19 mutations have a high risk of progression to chronic renal disease | Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R, RenalTube Group., Free PMC Article | 08/31/2013 |
| Case Reports: novel CLDN19 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.
Al-Shibli A, Konrad M, Altay W, Al Masri O, Al-Gazali L, Al Attrach I. | 06/22/2013 |
| The risk of end-stage renal disease in patients with CLDN19 mutations was two times the risk of patients with CLDN16 mutations. Ocular abnormalities were observed only in patients with CLDN19 mutations. | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R., Free PMC Article | 10/27/2012 |
| In a patient with consanguineous parents, history of disturbed organization and development of the retina, a diagnosis of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by claudin-19 mutation should be considered. | Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
Ekinci Z, Karabaş L, Konrad M. | 08/18/2012 |
| Ocular manifestations and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that may occur in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis and may indicate CLDN19 mutations. | Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
Faguer S, Chauveau D, Cintas P, Tack I, Cointault O, Rostaing L, Vargas-Poussou R, Ribes D., Free PMC Article | 06/18/2011 |
| The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina. | Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S., Free PMC Article | 01/21/2010 |