|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
|
31754267 |
2020 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found there were no clinical features of Alport syndrome not only in six probands with c.2858G>T(p.(G953V)) in COL4A5 plus pathogenic variants in other genes (e.g., WT1, ADCK4, NPHP1, TRPC6, COL4A4, and PAX2) but also in another six probands with only the c.2858G>T(p.(G953V)) variant.
|
31576025 |
2020 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Alport syndrome is optimally confirmed by the demonstration of a mutation in the COL4A5 gene or two mutations in trans in the COL4A3 or COL4A4 genes.
|
30506145 |
2020 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of COL4A5 are associated with X-linked AS with an extreme phenotypic heterogeneity.
|
31209800 |
2019 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation.
|
30582011 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
X-linked AS (XLAS) is the major AS form and is clinically heterogeneous, and it is associated with defects in the collagen type IV alpha 5 chain gene (COL4A5).
|
31490752 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To make a precise diagnosis, targeted Next Generation Sequencing (NGS) of an inherited renal disease panel including Alport syndrome genes was performed, which revealed the missense mutation in COL4A5 (c.1351 T > C, p.Cys451Arg).
|
31337345 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Approximately 80% of patients with Alport syndrome have X-linked Alport syndrome (XLAS), which is caused by mutations in the type IV collagen alpha 5 gene (COL4A5).
|
30062677 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alport syndrome (AS) is a genetically heterogenic, structural disorder of the glomerular basement membrane (GBM) due to the mutation of COL4A3, COL4A4, or COL4A5 genes, which clinically presents as progressive hematuric nephritis with ultrastructural changes of the GBM, high tone sensorineural hearing loss, and ocular lesions.
|
31686460 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A comparison of the clinical manifestations caused by different types of mutations in COL4A5 suggested that large fragment mutations are relatively more severe than the other missense mutations and AS by some mutations may show inter- and intra-familial phenotypic variability.
|
30968591 |
2019 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified novel mutations in Koreans with an X-linked AS mutation in the COL4A5 gene and an individual phenotype.
|
31096494 |
2019 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Phosphorylated STAT3 expression was assessed by immunoblotting analysis of kidneys and glomeruli of an AS mouse model (Col4a5 G5X mutant).
|
28992339 |
2018 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients.
|
28542346 |
2017 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes.
|
28570636 |
2017 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.
|
29270492 |
2017 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A third patient with an atypical history for Alport syndrome had a splice site mutation in COL4A5.
|
27434427 |
2017 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We sought to demonstrate that a novel COL4A5 splice region variant in a family with Alport syndrome is pathogenic using functional studies.
|
28013382 |
2017 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Female X-linked Alport syndrome with somatic mosaicism.
|
27796712 |
2017 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
|
27725546 |
2017 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
|
28275241 |
2017 |
|
Alport Syndrome
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients.
|
28542346 |
2017 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, a collagen type IV α 5 chain (<i>COL4A5</i>) variant (c.2858G>T, rs78972735), annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), was found in four family members with no clinical traits of AS.
|
28827396 |
2017 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alport syndrome (AS) is a genetically heterogeneous disorder, characterized by hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities caused by mutations in the COL4A3, COL4A4, and COL4A5 genes.
|
26866448 |
2016 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
X-linked Alport syndrome (XLAS), caused by mutations in the type IV collagen COL4A5 gene, accounts for approximately 80% of human Alport syndrome.
|
27959966 |
2016 |
|
Alport Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overall, a pathogenic COL4A3/COL4A4/COL4A5 mutation was identified in >50% of patients with fewer than three of the standard diagnostic criteria of AS.
|
25307543 |
2015 |