Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome
about
Podocin localizes in the kidney to the slit diaphragm areaNck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytesDisruption of PTPRO causes childhood-onset nephrotic syndromePositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversiblePlanar cell polarity pathway regulates actin rearrangement, cell shape, motility, and nephrin distribution in podocytesFunctional and spatial analysis of C. elegans SYG-1 and SYG-2, orthologs of the Neph/nephrin cell adhesion module directing selective synaptogenesisIQGAP1 interacts with components of the slit diaphragm complex in podocytes and is involved in podocyte migration and permeability in vitroElevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order MennonitesStructure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutationsProteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRINNPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allelePodocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrinAfrican ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic AmericansCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Genotype-phenotype correlations in non-Finnish congenital nephrotic syndromeNephrin is specifically located at the slit diaphragm of glomerular podocytesTRPC6 in glomerular health and disease: what we know and what we believeCo-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formationNeph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeabilityNephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrinNephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidneyAnuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxinAlpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal proteinAngiopoietins and diabetic nephropathyDrosophila tools and assays for the study of human diseasesPodocytesA circulating permeability factor in focal segmental glomerulosclerosis: the hunt continuesOpportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic EraGenetic causes of focal segmental glomerulosclerosis: implications for clinical practicePodocyte pathology and nephropathy - sphingolipids in glomerular diseasesCell biology and pathology of podocytesGenes and podocytes - new insights into mechanisms of podocytopathyPodocyte endocytosis in the regulation of the glomerular filtration barrierThe function of endocytosis in podocytesMembrane trafficking in podocyte health and diseasePodocyte-Specific Deletion of Murine CXADR Does Not Impair Podocyte Development, Function or Stress ResponseThe structural and functional organization of the podocyte filtration slits is regulated by Tjp1/ZO-1The adaptor protein Grb2 is not essential for the establishment of the glomerular filtration barrierExtracellular Architecture of the SYG-1/SYG-2 Adhesion Complex Instructs SynaptogenesisCalcium regulates podocyte actin dynamics.
P2860
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P2860
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Positionally cloned gene for a ...... congenital nephrotic syndrome
@ast
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en-gb
Positionally cloned gene for a ...... congenital nephrotic syndrome
@nl
type
label
Positionally cloned gene for a ...... congenital nephrotic syndrome
@ast
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en-gb
Positionally cloned gene for a ...... congenital nephrotic syndrome
@nl
prefLabel
Positionally cloned gene for a ...... congenital nephrotic syndrome
@ast
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en-gb
Positionally cloned gene for a ...... congenital nephrotic syndrome
@nl
P2093
P921
P3181
P1433
P1476
Positionally cloned gene for a ...... congenital nephrotic syndrome
@en
P2093
C E Kashtan
J Lamerdin
K Tryggvason
L Peltonen
M Männikkö
M Nissinen
P McCready
P304
P3181
P356
10.1016/S1097-2765(00)80057-X
P407
P577
1998-03-01T00:00:00Z