Results 31 to 40 of about 2,525,206 (182)
Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type
Frontiers in Genetics, 2020 Alport syndrome is a hereditary progressive chronic kidney disease caused by mutations in type IV collagen genes COL4A3/4/5. X-linked Alport syndrome (XLAS) is caused by mutations in the COL4A5 gene and is the most common form of Alport syndrome.
Cong Wang +9 more
doaj +1 more source
Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome [PDF]
Human Mutation, 1998 No abstract available.
T. M. Neri +15 more
openaire +8 more sources
Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome [PDF]
Nephrology Dialysis Transplantation, 2004 Mutations in the COL4A5 gene, encoding the alpha 5 chain of type IV collagen, are responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with progressive hearing loss and ocular lesions.In this study, we analysed all 51 exons of the COL4A5 gene in ...
Xiaoxia, Pan +9 more
openaire +3 more sources
The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
Frontiers in Pediatrics, 2020 Background: X-linked Alport syndrome is caused by mutations in the COL4A5 gene, which encodes the a5(IV) chain. No mutations were detected in COL4A5 exons 41A and 41B.Materials and Methods: A Chinese family with suspected Alport syndrome was enrolled in ...
Fang Wang +3 more
doaj +1 more source
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
core +1 more source
Stem Cell Research, 2020 X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c.
Lei Sun +5 more
doaj +1 more source
Egyptian Journal of Medical Human Genetics, 2023 Background In some β-thalassemia intermedia patients, hydroxyurea (HU) increases hemoglobin and HbF levels. However, HUs’ effects molecular mechanism is still unclear. Methods In this study, a weighted gene co-expression network analysis was conducted on
Akram Agha-Amini Fashami +3 more
doaj +1 more source
Stem Cell Research, 2020 The gene mutations of the collagen type IV alpha 5 chain (COL4A5) can lead to the inherited haematuria to end-stage renal disease X-linked Alport syndrome (X-LAS).
Xiaoling Guo +8 more
doaj +1 more source
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
The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons [PDF]
, 1996 The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons. To determine the spectrum of mutations of the COL4A5 gene encoding type IV collagen among Japanese Alport syndrome (AS) patients, 60 unrelated patients (47 males ...
Japanese Alport Network, +6 more
core +1 more source