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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.
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.
CLDN19 genetic mutation is responsible for familial magnesium deficiency with hypercalciuria and nephrocalcinosis.
analysis of a novel mutation c.241C>T in exon 2 of CLDN19 in a Chinese patient
Claudin-19, the most abundant claudin in myelin, exhibited no binding to ZO2 protein.
patients with CLDN19 mutations have a high risk of progression to chronic renal disease
Case Reports: novel CLDN19 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
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.
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.
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.
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.
this study presents the structure of mammalian claudin-19 in complex with C-CPE at 3.7 A resolution.
Sp1 site is crucial for Cldn19 gene expression in kidney cells.
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.
, claudin 19