Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
about
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10Skin biopsy for the diagnosis of Alport syndromeIdentification and characterization of glucocorticoid receptor-binding sites in the human genome.Stem cell therapies benefit Alport syndrome.A birth of bipartite exon by intragenic deletionThe effect of progressive glomerular disease on megalin-mediated endocytosis in the kidneyActivin-like kinase 3 is important for kidney regeneration and reversal of fibrosis.Reed's syndrome: segmental piloleimyomas type 1 and uterus myomatosus.Genetic kidney diseases disclose the pathogenesis of proteinuria.Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisBone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease.Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation.Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology.Identification of microRNAs and their target genes in Alport syndrome using deep sequencing of iPSCs samples.Role for macrophage metalloelastase in glomerular basement membrane damage associated with alport syndromeEpidemiological and genetic clues for molecular mechanisms involved in uterine leiomyoma development and growth.New insights into the molecular biology of the glomerular filtration barrier and associated disease.A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalitiesX-Linked Alport Dogs Demonstrate Mesangial Filopodial Invasion of the Capillary Tuft as an Early Event in Glomerular Damage.Integrin alpha1beta1 regulates matrix metalloproteinases via P38 mitogen-activated protein kinase in mesangial cells: implications for Alport syndrome.Temporal macular thinning associated with X-linked Alport syndrome.An Overlapping Case of Alport Syndrome and Thin Basement Membrane DiseaseNovel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Glomerular diseases: genetic causes and future therapeutics.Molecular genetics of familial hematuric diseases.Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.Podocyturia: A Clue for the Rational Use of Amiloride in Alport Renal Disease.Haematuria as a risk factor for chronic kidney disease progression in glomerular diseases: A review.Severe to profound hearing loss in patients with progressed Alport's syndrome.Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Disease modeling in genetic kidney diseases: mice.Allyl isothiocyanate influences cell adhesion, migration and metalloproteinase gene expression in SK-Hep1 cells.Genotype-phenotype correlation in X-linked Alport syndromePregnancy outcomes in patients with Alport syndrome.Development of kidney glomerular endothelial cells and their role in basement membrane assembly.Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.Alport syndrome: HLA association and kidney graft outcome.Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
P2860
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P2860
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@ast
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@en
type
label
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@ast
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@en
prefLabel
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@ast
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@en
P1433
P1476
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
@en
P2093
Kashtan CE
P304
P356
10.1097/00005792-199909000-00005
P407
P577
1999-09-01T00:00:00Z