Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
about
Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhereCanine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IVIdentification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical regionMolecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagenSequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagenSubstitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragmentsMammalian collagen IVComparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patientsIsolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genesDevelopmental distribution of collagen IV isoforms and relevance to ocular diseasesCollagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switchesGenetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.Mild phenotypic manifestation of a 7p15.3p21.2 deletionAlport's syndrome.Alport syndrome: abnormalities of type IV collagen genes and proteins.Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Basement membrane proteins: structure, assembly, and cellular interactions.Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneysAbsence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.Differential expression of basement membrane collagen chains in diabetic nephropathyGlomerular basement membrane expansion in passive Heymann nephritis. Absence of increased synthesis of type IV collagen, laminin, or fibronectinRenal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this diseaseDifferential expression of basement membrane collagen in membranous nephropathyType IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.Genetic identification, sequence, and alternative splicing of the Caenorhabditis elegans alpha 2(IV) collagen gene.Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodiesMolecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome.Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Type IV collagen-derived angiogenesis inhibitorsExtracellular matrix molecules and their receptors: functions in neural development.Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models.Regulation of type IV collagen alpha chains of glomerular epithelial cells in diabetic conditions.Cloning of Alport syndrome gene.Human genetic mapping and inherited deafness syndromes.Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.Giant macular hole in Alport syndrome.Glomerular diseases: genetic causes and future therapeutics.
P2860
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P2860
Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
description
1990 nî lūn-bûn
@nan
1990 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Identification of a distinct t ...... omosome-linked Alport syndrome
@ast
Identification of a distinct t ...... omosome-linked Alport syndrome
@en
Identification of a distinct t ...... omosome-linked Alport syndrome
@nl
type
label
Identification of a distinct t ...... omosome-linked Alport syndrome
@ast
Identification of a distinct t ...... omosome-linked Alport syndrome
@en
Identification of a distinct t ...... omosome-linked Alport syndrome
@nl
prefLabel
Identification of a distinct t ...... omosome-linked Alport syndrome
@ast
Identification of a distinct t ...... omosome-linked Alport syndrome
@en
Identification of a distinct t ...... omosome-linked Alport syndrome
@nl
P2093
P2860
P356
P1476
Identification of a distinct t ...... omosome-linked Alport syndrome
@en
P2093
K Tryggvason
S L Hostikka
P2860
P304
P356
10.1073/PNAS.87.4.1606
P407
P577
1990-02-01T00:00:00Z