Identification of mutations in the COL4A5 collagen gene in Alport syndrome
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Immunohistochemical distribution of basement membrane proteins in the human inner ear from older subjectsOsteogenesis imperfecta: translation of mutation to phenotypeAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studiesMolecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagenLinkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3Sequence 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 fragmentsStage-specific action of matrix metalloproteinases influences progressive hereditary kidney disease.Ocular features in Alport syndrome: pathogenesis and clinical significanceMammalian 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 diseasesLarge-scale identification of genes implicated in kidney glomerulus development and function.Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switchesAMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisExome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.Identifying the genes of hearing, deafness, and dysequilibrium.Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceSensorineural deafness inherited as a tissue specific mitochondrial disorder.At the speed of sound: gene discovery in the auditory systemThree-dimensional electron microscopy reveals the evolution of glomerular barrier injury.Molecular testing for adult type Alport syndromeCharacterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.The glomerular transcriptome and a predicted protein-protein interaction network.Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy.Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome.Phenotype recognition. Clinicians' contributions to molecular genetics.Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?Mild phenotypic manifestation of a 7p15.3p21.2 deletionSources of Urinary Proteins and their Analysis by Urinary Proteomics for the Detection of Biomarkers of DiseaseBeginning of a molecular era in hearing and deafness.Alport's syndrome.Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.Extracellular matrix molecules: potential targets in pharmacotherapy.Retinal basement membrane abnormalities and the retinopathy of Alport syndromeMolecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
P2860
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P2860
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
description
1990 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Science
@fr
artículu científicu espublizáu en 1990
@ast
im Juni 1990 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1990/06/08)
@sk
vědecký článek publikovaný v roce 1990
@cs
wetenschappelijk artikel (gepubliceerd op 1990/06/08)
@nl
наукова стаття, опублікована в червні 1990
@uk
name
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@ast
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@en
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@nl
type
label
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@ast
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@en
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@nl
prefLabel
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@ast
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@en
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@nl
P2093
P3181
P356
P1433
P1476
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
@en
P2093
A. R. Oliphant
C. L. Atkin
D. F. Barker
K. Tryggvason
L. T. Chow
M. C. Gregory
M. H. Skolnick
S. C. Gerken
S. L. Hostikka
P304
P3181
P356
10.1126/SCIENCE.2349482
P407
P577
1990-06-08T00:00:00Z