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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Claudin 19

claudin-19, CLDN19
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. [provided by RefSeq, Jun 2010] (from NCBI)
Top mentioned proteins: AGE, HAD, TRPM6, claudin-1, CAN
Papers on claudin-19
Biochemical and biophysical analyses of tight junction permeability made of claudin-16 and claudin-19 dimerization.
New
Hou et al., Marburg an der Lahn, Germany. In Mol Biol Cell, Jan 2016
The molecular nature of tight junction architecture and permeability is a long-standing mystery.
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
New
Claverie-Martin, Santa Cruz de Tenerife, Spain. In Clin Kidney J, Dec 2015
CLDN16 and CLDN19 encode the tight-junction proteins claudin-16 and claudin-19, respectively, which are expressed in the thick ascending limb of Henle's loop and form an essential complex for the paracellular reabsorption of magnesium and calcium.
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
New
Xia et al., Beijing, China. In Calcif Tissue Int, Apr 2015
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder caused by mutations in the CLDN16 or CLDN19 genes, encoding claudin-16 and claudin-19 in the thick ascending limb of Henle's loop.
Biophysical characterization of interactions between the C-termini of peripheral nerve claudins and the PDZ₁ domain of zonula occludens.
New
Li et al., United States. In Biochem Biophys Res Commun, Apr 2015
Using the purified PDZ₁ domain of ZO₂ and a variety of C-terminal mutants of peripheral nerve claudins (claudin-1, claudin-2, claudin-3, claudin-5 in epi-/perineurium; claudin-19 in myelin), we have utilized NMR spectroscopy to determine specific roles of the 3 C-terminal claudin residues (position -2, -1, 0) for their interactions with PDZ₁ of ZO₂.
Genetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American women.
New
Liu et al., Boston, United States. In J Nutr, Mar 2015
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals were strengthened [rs11590362 in claudin 19 (CLDN19), rs823154 in SLC41A1, rs5929706 and rs5930817 in membra; HA: ≥0.313 g/d), rs6584273 in CNNM1 (OR: 0.71; FDR-adjusted P = 0.04) and rs1800467 in potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) (OR: 2.50; FDR-adjusted P = 0.01) were significantly associated with T2D risk.
Tight junctions. Structural insight into tight junction disassembly by Clostridium perfringens enterotoxin.
New
Impact
Fujiyoshi et al., Nagoya, Japan. In Science, Mar 2015
Here we present the structure of mammalian claudin-19 in complex with C-CPE at 3.7 Å resolution.
The claudin-16 channel gene is transcriptionally inhibited by 1,25-dihydroxyvitamin D.
Zelikovic et al., Haifa, Israel. In Exp Physiol, 2015
The 1,25(OH)2 VitD also increased renal Ca(2+)-sensing receptor (CaSR) mRNA and decreased renal claudin-16 and claudin-19 mRNA and claudin-16 protein, but did not affect renal claudin-2 mRNA.
Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.
Neves et al., Brasília, Brazil. In Bmc Nephrol, 2014
It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively.
Role of claudins in renal calcium handling.
Negri, Buenos Aires, Argentina. In Nefrologia, 2014
Claudin-16 mediates cationic paracellular permeability in ATLH, whereas claudin-19 increases cationic selectivity of claudin-16 by blocking anionic permeability.
Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue.
Townamchai et al., Bangkok, Thailand. In Int J Mol Sci, 2014
S100A8, ANXA13, CLDN19 and FAM46B were identified as the best kidney biomarkers for refractory LN, and COL8A1 was identified as the best marker for early loss of kidney function.
Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
Jouret et al., Liège, Belgium. In Clin Kidney J, 2014
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive disease caused by mutations in the CLDN16 or CLDN19 genes, which encode tight junction-associated proteins, claudin-16 and -19.
Claudin-7, -16, and -19 during mouse kidney development.
Gupta et al., Montréal, Canada. In Tissue Barriers, 2013
In contrast, Claudin-16 (Cldn16) and Claudin-19 (Cldn19) were expressed at later stages of kidney development in immature renal tubules that become the Loop of Henle.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
GeneRIF
Vargas-Poussou et al., Paris, France. In Clin J Am Soc Nephrol, 2012
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.
Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
GeneRIF
Konrad et al., Kocaeli, Turkey. In Turk J Pediatr, 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.
Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
GeneRIF
Ribes et al., Toulouse, France. In Clin J Am Soc Nephrol, 2011
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.
Claudin-16 and claudin-19 function in the thick ascending limb.
Review
Goodenough et al., Saint Louis, United States. In Curr Opin Nephrol Hypertens, 2010
PURPOSE OF REVIEW: Claudin-16 and claudin-19 play a major role in the regulation of magnesium reabsorption in the thick ascending limb (TAL).
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
GeneRIF
Goodenough et al., Boston, United States. In Proc Natl Acad Sci U S A, 2009
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
Function and regulation of claudins in the thick ascending limb of Henle.
Review
Yu et al., Berlin, Germany. In Pflugers Arch, 2009
Importantly, FHHNC has been found to be caused by mutations in two of these genes, claudin-16 and claudin-19, and mice with knockdown of claudin-16 reproduce many of the features of FHHNC.
Molecular determinants of magnesium homeostasis: insights from human disease.
Review
Bindels et al., Nijmegen, Netherlands. In J Am Soc Nephrol, 2008
The discovery that mutations in claudin-16/paracellin-1 or claudin-19 are responsible for familial hypomagnesemia with hypercalciuria and nephrocalcinosis provided insight into the molecular mechanisms governing paracellular transport of Mg(2+).
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
GeneRIF
Weber et al., Bern, Switzerland. In Am J Hum Genet, 2006
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.
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