Col4a5 Gene | List of Frontiers open access articles

Original Research

Published on 27 Feb 2023

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

in Genetics of Common and Rare Diseases

Lei Liang
Haotian Wu
Zeyu Cai
Jianrong Zhao

Frontiers in Genetics

doi 10.3389/fgene.2023.1059322

3,304 views
9 citations

Original Research

Published on 09 Aug 2024

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

in Genetics of Common and Rare Diseases

Jian-Hui Zhang
Jie Liu
Dan-Dan Ruan
Qian Chen
Jie Yang
Min Wu
Hong-Ping Yu
Li-Sheng Liao
Xiao-Ling Zheng
Jie-Wei Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1419154

2,626 views

Original Research

Published on 11 Jun 2025

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

in Genetics of Common and Rare Diseases

Haomiao Li
Shengnan Zhang
Wei Zhou
Chunli Wang
Chunhua Zhu
Sanlong Zhao
Fei Zhao
Zhanjun Jia
Aihua Zhang
Bixia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1564343

2,871 views

Original Research

Published on 08 Mar 2023

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene

in Nephrology

Wei-qing Wu
Jia-xun Zhang
Ying-xia Cui
Ming-chao Zhang
Xiao-hang Chen
Shan Duan
Cai-hong Zeng
Pei-ning Li
Xiao-jun Li

Frontiers in Medicine

doi 10.3389/fmed.2023.1086756

5,487 views
4 citations

Case Report

Published on 11 Nov 2025

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy

in Cardiovascular Genetics and Systems Medicine

Shan Han
Ying-Yi Zhang
Jie Geng

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2025.1668842

1,109 views

Case Report

Published on 10 Aug 2023

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

in Genetics of Common and Rare Diseases

Nengqing Liu
Xiaojun Wen
Zhanhui Ou
Xiaowu Fang
Jing Du
Xiufeng Lin

Frontiers in Pediatrics

doi 10.3389/fped.2023.1177019

2,971 views
2 citations

Original Research

Published on 13 Jan 2023

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

in Pediatric Nephrology

Pei Qian
Ying Bao
Hui-mei Huang
Lei Suo
Yan Han
Zhi-juan Li
Min Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2022.1009188

3,904 views
6 citations

Case Report

Published on 19 Jul 2021

Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

in Genetics of Common and Rare Diseases

Feng-mei Wang
Yan Yang
Xiao-liang Zhang
Yan-li Wang
Yan Tu
Bi-Cheng Liu
Bin Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.690952

3,555 views
1 citation

Case Report

Published on 07 Aug 2025

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

in Genetics of Common and Rare Diseases

Hoon Seok Kim
Myungshin Kim
Jin-Soon Suh
Yeonhee Lee

Frontiers in Pediatrics

doi 10.3389/fped.2025.1639471

2,000 views
1 citation

Case Report

Published on 29 Sep 2025

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

in Precision Medicine

Chee Teck Koh
Tina Si Ting Lim
Alwin Hwai Liang Loh
Yan Fei Ng
Jia Liang Kwek
Perry Yew Weng Lau
Hui-lin Chin
Jun Li Ng
Mya Than
Irene Yanjia Mok

Frontiers in Medicine

doi 10.3389/fmed.2025.1611334

1,769 views

Original Research

Published on 16 May 2024

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

in Genetics of Common and Rare Diseases

Lei Liang
Haotian Wu
Jianrong Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1330525

2,129 views

Original Research

Published on 10 Feb 2020

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type

in Genetics of Common and Rare Diseases

Cong Wang
Shenghui Liang
Shijia Xing
Ke Xu
Huijie Xiao
Haiyue Deng
Xiaoyuan Wang
Liangyi Chen
Jie Ding
Fang Wang

Frontiers in Genetics

doi 10.3389/fgene.2020.00036

5,425 views
8 citations

Articles

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

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type