A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.
about
Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal diseaseKidney stone disease.Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16Viral infection and human disease--insights from minimotifsMutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementClaudins and the kidneyMotif mediated protein-protein interactions as drug targetsAssociation of paracellin-1 with ZO-1 augments the reabsorption of divalent cations in renal epithelial cellsCommon variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.Tight junctional localization of claudin-16 is regulated by syntaxin 8 in renal tubular epithelial cells.Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Claudins and the modulation of tight junction permeability.Cellular magnesium homeostasis.Prediction and experimental characterization of nsSNPs altering human PDZ-binding motifs.rs17501976 polymorphism of CLDN1 gene is associated with decreased risk of colorectal cancer in a Chinese population.Extensive expansion of the claudin gene family in the teleost fish, Fugu rubripesNatural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution.The tight junction protein, MUPP1, is up-regulated by hypertonicity and is important in the osmotic stress response in kidney cells.Tight junction pore and leak pathways: a dynamic duo.Tight junction biology and kidney dysfunction.Early embryonic lethality of mice lacking ZO-2, but Not ZO-3, reveals critical and nonredundant roles for individual zonula occludens proteins in mammalian development.Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.Genetic basis of renal cellular dysfunction and the formation of kidney stones.Hypertonic stress increases claudin-4 expression and tight junction integrity in association with MUPP1 in IMCD3 cells.Biology of claudins.Claudins and mineral metabolism.A lipid-protein hybrid model for tight junction.Genetic causes of hypercalciuric nephrolithiasis.Function and regulation of claudins in the thick ascending limb of Henle.A connected tale of claudins from the renal duct to the sensory systemClaudin interactions in and out of the tight junctionUpdate on the genetics of nephrolithiasis.Genetic determinants of urolithiasis.Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+.Do cell junction protein mutations cause an airway phenotype in mice or humans?Claudins in renal physiology and disease.Regulation of claudins in blood-tissue barriers under physiological and pathological statesWays of calcium reabsorption in the kidney.Physiological roles of claudins in kidney tubule paracellular transport.
P2860
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P2860
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
A novel claudin 16 mutation as ...... ults in lysosomal mistargeting
@nl
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@ast
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en-gb
type
label
A novel claudin 16 mutation as ...... ults in lysosomal mistargeting
@nl
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@ast
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en-gb
prefLabel
A novel claudin 16 mutation as ...... ults in lysosomal mistargeting
@nl
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@ast
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en-gb
P2093
P2860
P356
P1476
A novel claudin 16 mutation as ...... lts in lysosomal mistargeting.
@en
P2093
Dominik Müller
Iwan C Meij
P Jaya Kausalya
Paul Eggert
Victor Garcia-Nieto
P2860
P304
P356
10.1086/380418
P407
P577
2003-11-18T00:00:00Z