Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
about
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.Stage-specific action of matrix metalloproteinases influences progressive hereditary kidney disease.Ocular features in Alport syndrome: pathogenesis and clinical significanceA novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathyMammalian 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 genesThe renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zoneLarge-scale identification of genes implicated in kidney glomerulus development and function.The sound of silence: mouse models for hearing lossExpression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceAt the speed of sound: gene discovery in the auditory systemThe inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked 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.Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome.Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconusBeginning of a molecular era in hearing and deafness.Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.Retinal basement membrane abnormalities and the retinopathy of Alport syndromeThe prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.Alport syndrome: abnormalities of type IV collagen genes and proteins.Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cellsCollagen XIII induced in vascular endothelium mediates alpha1beta1 integrin-dependent transmigration of monocytes in renal fibrosisOutcomes of male patients with Alport syndrome undergoing renal replacement therapy.Alport disease: a review of the diagnostic difficulties.Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.Searching for a treatment for Alport syndrome using mouse modelsExploring the genetic basis of early-onset chronic kidney disease.Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageingRapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.New functional roles for non-collagenous domains of basement membrane collagensSequential expression of type IV collagen networks: testis as a model and relevance to spermatogenesisRole for macrophage metalloelastase in glomerular basement membrane damage associated with alport syndrome
P2860
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P2860
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
description
1994 nî lūn-bûn
@nan
1994 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identification of mutations in ...... omal recessive Alport syndrome
@ast
Identification of mutations in ...... omal recessive Alport syndrome
@en
Identification of mutations in ...... omal recessive Alport syndrome
@en-gb
Identification of mutations in ...... omal recessive Alport syndrome
@nl
type
label
Identification of mutations in ...... omal recessive Alport syndrome
@ast
Identification of mutations in ...... omal recessive Alport syndrome
@en
Identification of mutations in ...... omal recessive Alport syndrome
@en-gb
Identification of mutations in ...... omal recessive Alport syndrome
@nl
prefLabel
Identification of mutations in ...... omal recessive Alport syndrome
@ast
Identification of mutations in ...... omal recessive Alport syndrome
@en
Identification of mutations in ...... omal recessive Alport syndrome
@en-gb
Identification of mutations in ...... omal recessive Alport syndrome
@nl
P2093
P3181
P356
P1433
P1476
Identification of mutations in ...... omal recessive Alport syndrome
@en
P2093
C Antignac
C H Schröder
C Verellen-Dumoulin
H H Lemmink
H J Smeets
M C Gubler
M Mariyama
T Mochizuki
P2860
P2888
P3181
P356
10.1038/NG0994-77
P407
P577
1994-09-01T00:00:00Z
P6179
1010224774