Alport syndrome--insights from basic and clinical research.
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Col4a1 mutations cause progressive retinal neovascular defects and retinopathyAnti-microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathwaysNovel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Laminin α2-mediated focal adhesion kinase activation triggers Alport glomerular pathogenesis.The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.A novel COL4A5 mutation identified in a Chinese Han family using exome sequencingThe glomerular basement membrane as a barrier to albumin.Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicismType IV Collagen Controls the Axogenesis of Cerebellar Granule Cells by Regulating Basement Membrane Integrity in Zebrafish.Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate TreatmentGeneration of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndromePodocyte Depletion in Thin GBM and Alport Syndrome.A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.The collagenopathies: review of clinical phenotypes and molecular correlations.Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.Pathophysiology of the cochlear intrastrial fluid-blood barrier (review).Human proximal tubule epithelial cells cultured on hollow fibers: living membranes that actively transport organic cationsMicroRNAs as Master Regulators of Glomerular Function in Health and Disease.Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases.Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.Bromide supplementation exacerbated the renal dysfunction, injury and fibrosis in a mouse model of Alport syndrome.Ultrastructural Characterization of the Glomerulopathy in Alport Mice by Helium Ion Scanning Microscopy (HIM).The interface of genetics with pathology in alport nephritis.Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.Renal, auricular, and ocular outcomes of Alport syndrome and their current management.Amniotic fluid stem cell-derived vesicles protect from VEGF-induced endothelial damage.Characterization of the early molecular changes in the glomeruli of Cd151 -/- mice highlights induction of mindin and MMP-10.Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Basement Membrane Defects in Genetic Kidney Diseases.Albumin: innocent bystander or culprit?Primary osteomyelofibrosis and an XX-male genotype.Long-term treatment with EGFR inhibitor erlotinib attenuates renal inflammatory cytokines but not nephropathy in Alport syndrome mouse model.Evidence of digenic inheritance in Alport syndrome.Glomerular basement membrane (GBM) abnormalities are worth pursuing.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis ofEFNB2in patients with anorectal malformations
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Alport syndrome--insights from basic and clinical research.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Alport syndrome--insights from basic and clinical research.
@en
type
label
Alport syndrome--insights from basic and clinical research.
@en
prefLabel
Alport syndrome--insights from basic and clinical research.
@en
P2093
P2860
P356
P1476
Alport syndrome--insights from basic and clinical research.
@en
P2093
Diana Rubel
Jenny Kruegel
Oliver Gross
P2860
P2888
P304
P356
10.1038/NRNEPH.2012.259
P407
P577
2012-11-20T00:00:00Z