LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "col4a5 gene" as a keyword



Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Sign Up to like & get
recommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2395

Abstract: X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of… read more here.

Keywords: gene alter; variants col4a5; col4a5 gene; exonic variants ... See more keywords

Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.

Sign Up to like & get
recommendations! Published in 2020 at "Stem cell research"

DOI: 10.1016/j.scr.2020.102023

Abstract: The clinical manifestations of Alport syndrome may vary depending on the involved organs such as the kidneys, cochlea and eyes. The pathogenic genes involved are those encoding different chains of type IV collagen. We collected… read more here.

Keywords: col4a5 gene; gene mutation; novel col4a5; patient novel ... See more keywords

Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology

Sign Up to like & get
recommendations! Published in 2025 at "Human Mutation"

DOI: 10.1155/humu/1443580

Abstract: COL4A5 gene variants could result in the X‐linked Alport syndrome 1, dominant inheritance (XLAS1) (Online Mendelian Inheritance in Man (OMIM) #301050). The splicing changes can be identified through targeted RNA sequencing (RNA seq), but obtaining… read more here.

Keywords: methodology; variants col4a5; alport syndrome; col4a5 gene ... See more keywords

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

Sign Up to like & get
recommendations! Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1059322

Abstract: Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities. According to the mode of inheritance, AS has three subtypes: X-linked (XL; OMIM#301050), autosomal recessive (AR; OMIM#203780),… read more here.

Keywords: splicing variant; col4a5 gene; variant col4a5; gene ... See more keywords