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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.
Data suggest that Pdzrn3 mediates endocytosis of dephosphorylated CLDN16 and represents an important component of CLDN16-trafficking machinery in renal tube epithelial cells. (Pdzrn3 = PDZ domain containing RING finger 3 protein; CLDN16 = claudin 16)
detected a novel mutation in CLDN16 for the first time. The clinical and genetic findings from this study will help to expand the understanding of this rare disease, FHHNC
claudin-16 gene (CLDN16) mutations result in amelogenesis imperfect.
CLDN16 mutations are associated with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
1,25(OH)2 VitD transcriptionally inhibits renal claudin-16 expression by a mechanism sensitive to CaSR and Mg(2+).
A novel CLDN16 mutation has been identified in a large consanguineous family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
These results suggest that STX8 mediates the recycling of CLDN16 and constitutes an important component of the CLDN16 trafficking machinery in the kidney.
Six different mutations of CLDN16 were detected (five missense and one nonsense); three of the missense mutations were previously unknown (p.Cys80Tyr, p.Lys183Glu, and p.Gly233Arg).
A novel mutation of CLDN16 gene is responsible for familial hypomagnesaemia in Turkish children.
Claudin-16 plays a role beyond that of an initial metastasis repressor in breast cancer.
Claudin 16 gene revealed homozygosity for the p.K183E(AAA>GAA) C. 547A>G indicating the diagnosis of hypomagnesemia with hypercalciuria and nephrocalcinosis.
Multiple distinct mutations in the CLDN16 and CLDN19 genes have been found responsible for familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Elevated CLDN16 gene expression was suggested to be involved in the development of breast cancer and to be a biomarker and target treatment for breast cancer.
Mg(2+) depletion markedly increased and Mg(2+) load decreased endogenous claudin-16 mRNA levels in calcium-sensing receptor-transfected HEK293 cells compared with native HEK293 cells.
Mutations in claudin 16 that affect interaction with ZO-1 lead to lysosomal mistargeting
Paracellin-1 modulates paracellular conductance and not transcellular transport; it does not form magnesium ion-selective paracellular channels
We conclude that FHHNC can result from mutations in Cldn16 that affect intracellular trafficking or paracellular Mg2+ permeability
We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months.
paracellin-1 might act as selectivity filter for the paracellular movement of ions and water during stimulated secretion
Claudin-16 sequences were not usually amplified from a small number of sperm cells (< or =10 cells) but claudin-16 DNA sequences were occasionally detected when a large number of sperm cells (> or =50 cells) were present.
Renal lesions in Japanese Black cattle are not necessarily associated with homozygous deletion of the CL-16 gene.
Severe individual renal phenotypes in claudin-10 and claudin-16 knockout mice are corrected by the additional deletion of the other claudin.
Mg(2+)-loaded animals displayed hypermagnesemia with increasing urine Mg(2+)/Ca(2+) levels paralleled by a decrease in claudin-16 protein and mRNA in the kidney.
data suggest that claudin-16 forms a non-selective paracellular cation channel, rather than a selective Mg(2+)/Ca(2+) channel as previously proposed
Perturbation in salt and acid-base metabolism in CLDN16 knockout mice has its origin in the defective cation permeability selectivity of the thick ascending limb of the nephron.
Insights into driving forces and paracellular permeability from claudin-16 knockdown mouse
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28.
, hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
, H59D2a protein