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CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. De plus, nous expédions Chloride Channel 5 Protéines (6) et beaucoup plus de produits pour cette protéine.
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Human Polyclonal Chloride Channel 5 Primary Antibody pour WB - ABIN1881207
White: On the position and value of those Lesions of the Brain which cause a rise of Temperature. dans The Journal of physiology 2007
Show all 4 Pubmed References
Human Polyclonal Chloride Channel 5 Primary Antibody pour IHC, IHC (p) - ABIN4299055
Ceol, Tiralongo, Baelde, Vianello, Betto, Marangelli, Bonfante, Valente, Della Barbera, DAngelo, Anglani, Del Prete: Involvement of the tubular ClC-type exchanger ClC-5 in glomeruli of human proteinuric nephropathies. dans PLoS ONE 2012
analysis of extracellular determinants of anion discrimination of the Cl-/H+ antiporter protein CLC-5
This study demonistrated that Clcn5 gene expression in mouse dorsal raphe nucleus
ClC-5 plays an essential role in exocytosis of NHE3 (Montrer SLC9A3 Anticorps).
HNF1alpha (Montrer HNF1A Anticorps) directly regulates the expression of ClC-5 in the renal proximal tubule
ClC-5 is unique among CLC (Montrer CLC Anticorps) proteins in being crucial for proximal tubular endocytosis and the PY-motif-dependent ubiquitylation of ClC-5 is dispensable for this rol
findings show that endosomal chloride concentration, which is raised by ClC-5 in exchange for protons accumulated by H+-ATPase (Montrer ATP6AP1 Anticorps), may play a role in endocytosis
Our studies demonstrate a role for CLC-5 in the immunopathogenesis of ulcerative colitis
ClC-5 regulates dentin development through TGF-beta1 (Montrer TGFB1 Anticorps) pathway
Disruption of CLC-5 expression causes abnormal calcium crystal agglomeration on the surface of kidney collecting duct cells.
hypercalciuria in the ClC-5 KO mice on low and high calcium diets is of bone and renal origin and is not caused by increased intestinal calcium absorption
Impaired protein endocytosis caused by invalidation of ClC-5 primarily reflects a trafficking defect of megalin (Montrer LRP2 Anticorps) and cubilin (Montrer CUBN Anticorps) in PTC (Montrer PTCH1 Anticorps).
We demonstrated that most Polish patients with DD carry CLCN5 mutations, and they usually present with proteinuria and hypercalciuria.
Novel CLCN5 (c.1205G>A, p.W402*) and FGF23 (Montrer FGF23 Anticorps) (c.526C>G, p.R176G) mutations were found in two patients from the remaining two families
Expression of ClC-5 carrying Dent's disease-associated mutations in HEK293 cells had varying effects: (1) no detectable expression of mutant protein; (2) retention of a truncated protein in the endoplasmic reticulum; or (3) diminished protein expression with normal distribution in early endosomes.
These data suggest that ClC-5 enhances the cytotoxic action of Clostridium difficile toxins TcdA and TcdB by accelerating the acidification and maturation of vesicles of the early and early-to-late endosomal system.
A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1 (Montrer OCRL Anticorps).
we carefully investigated the functional effects of four CLC-5 mutations, including three missense mutations (S244L, R345W, T657S) and one nonsense mutation (Q629X)
A novel mutation in the CLCN5 gene was identified in our patient with Dent's disease.
structural complexity of the CLCN5 5'UTR (Montrer UTS2R Anticorps) region
ATP induces conformational changes in the carboxyl-terminal region of ClC-5.
study described a single Chinese family with Dent disease, and findings suggest that a novel frameshift mutation (c. 246delG) in exon 5 of the CLCN5 gene was responsible for Dent disease in this case
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene.
chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)
, chloride channel protein 5
, chloride channel 5
, H(+)/Cl(-) exchange transporter 5-like
, Chloride channel protein 5
, H(+)/Cl(-) exchange transporter 5
, chloride transporter ClC-5
, voltage-gated chloride ion channel CLCN5
, chloride channel CLC-5
, chloride channel CLCN5
, chloride channel Clc-5