Results 31 to 40 of about 4,891 (195)
Stem Cell Research, 2021 Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance.
Hangdi Wu +6 more
doaj +1 more source
Chinese Medical Journal, 2019 . Background:. Collagen type IV (COL4)-related nephropathy includes a variety of kidney diseases that occur with or without extra-renal manifestations caused by COL4A3-5 mutations. Previous studies revealed several novel mutations, including three COL4A3
Hui-Di Zhang +6 more
doaj +1 more source
Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria [PDF]
Journal of the American Society of Nephrology, 2002 ABSTRACT. Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized by the presence of persistent or recurrent hematuria. The clinical and pathologic features of this syndrome resemble those of early Alport syndrome (AS), and for this reason a common molecular defect has been proposed.
Cèlia, Badenas +14 more
openaire +2 more sources
Clinical Insights Into the COL4A3 p.Gly407Arg Variant in Alport Syndrome. [PDF]
Kidney360Background: Alport syndrome is a hereditary nephropathy caused by pathogenic variants in the COL4A3, COL4A4 , or COL4A5 genes, encoding type IV collagen chains that are essential for glomerular basement
Gomes AM +10 more
europepmc +2 more sources
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome [PDF]
, 2002 COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.BackgroundMutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS).
Brusco, Alfredo +19 more
core +3 more sources
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. [PDF]
PLoS ONE, 2016 Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic ...
Judith Savige +16 more
doaj +1 more source
A case of mild phenotype Alport syndrome caused by COL4A3 mutations [PDF]
CEN Case Reports, 2017 In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV
Masafumi, Kamijo +9 more
openaire +2 more sources
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
core +1 more source
Col4a3 mouse glomerular datasets
, 2022 Glomeruli were isolated from Col4a3-/- and Ctrl mice.
Division of Cell Matrix Biology & Regenerative Medicine (L5) +1 more
core +1 more source
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
Molecular vision, 2010 Alterations in collagen type IV, alpha-3 (COL4A3) and collagen type IV, alpha-4 (COL4A4) genes may be responsible for a decrease in collagen types I and III, a feature often detected in keratoconus (KC). To evaluate the significance of alterations in COL4A3 and COL4A4 genes in KC patients, we screened both genes and estimated the significance of ...
Mirna, Stabuc-Silih +4 more
openaire +6 more sources