Col4a5 mouse glomerular extracellular matrix
, 2022 Alport mouse model (Col4a5) have been submitted for proteomic analysis. Glomeruli have been isolated from mouse kidneys, extracellular matrix has been enriched and analysed by mass ...
Division of Cell Matrix Biology & Regenerative Medicine (L5) +1 more
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Possible digenic disease in a caucasian family with COL4A3 and COL4A5 mutations [PDF]
, 2019 Microscopic hematuria is a common feature of patients with Alport syndrome, a familial nephropathy due to mutations in COL4A3, COL4A4 or COL4A5. These genes encode for α3, α4, and α5 type IV collagen polypeptide chains (collagen IV α345), crucial for the
Gollasch, M. +9 more
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Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene [PDF]
, 1992 Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene. Alport syndrome (AS) is an hereditary glomerulonephritis that is mainly inherited as a dominant X-linked trait.
Roussel, Bernard +10 more
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Stem Cell Research, 2021 Pathogenic mutations in the COL4A5 gene are the main causes of X-Linked Alport Syndrome (XLAS). Here, to better understand the pathogenic mechanism of XLAS, we generated an iPSC line (GWCMCi002-A) from the peripheral blood mononuclear cells (PBMCs) of an
Xia Gao +6 more
doaj +1 more source
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome
, 1995 Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X-linked Alport syndrome.
MERONI M. +11 more
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COL4A5 gene deletion and production of post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome [PDF]
, 1994 COL4A5 gene deletion and production of post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome. Mutations in the COL4A5 gene encoding the α5(IV) chain of type IV collagen have been implicated as the primary defect in X-linked Alport ...
Kalluri, Raghuram +5 more
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iScience, 2022 Summary: Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes.
Kohei Omachi +3 more
doaj +1 more source
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study
Molecular Genetics & Genomic Medicine, 2021 Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and ...
Vera Uliana +13 more
doaj +1 more source
Prevalence estimates of predicted pathogenic col4a3-col4a5 variants in a population sequencing database and their implications for alport syndrome [PDF]
, 2021 Background The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000 individuals. This study estimated the frequencies of predicted pathogenicCOL4A3-COL4A5 variants in sequencing databases of populations without known kidney ...
Gibson, J +9 more
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Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts [PDF]
, 2005 Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.BackgroundAlport syndrome is a progressive hereditary glomerulonephritis that is characterized by hematuria, sensorineural deafness, ocular lesions, and progressive renal ...
Ding, Jie +7 more
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