Results 11 to 20 of about 3,450 (166)

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons. [PDF]

PLoS ONE
Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi, Joseph J Porter, John D Lueck, Jeffrey H Miner   +3 more
doaj   +2 more sources

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome [PDF]

Kidney International Reports, 2020
Alport syndrome is a hereditary glomerulonephritis that results from the disruption of collagen α345(IV) heterotrimerization caused by mutation in COL4A3, COL4A4 or COL4A5 genes. Many clinical studies have elucidated the correlation between genotype and phenotype, but there is still much ambiguity and insufficiency.
Tomohiko Yamamura, Hirofumi Kai, Kohei Omachi   +2 more
exaly   +5 more sources

Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome [PDF]

Frontiers in Pediatrics
ObjectivesAlport syndrome (AS) is an inherited kidney disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5. In this study, we aim to apply a split-luciferase bioluminescence assay to functionally assess COL4A3, COL4A4, or COL4A5 variants ...
Yue Cai, Ying-qi Lin, Xin-yu Kuang, Lei Sun, Meng-ying Li, Yu-jie Hu, Wen-yan Huang   +6 more
doaj   +2 more sources

A Novel <i>Col4a5</i>-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating <i>COL4A5</i> Mutations in X-Linked Alport Syndrome. [PDF]

Genes (Basel)
Background/Objectives: X-linked Alport syndrome (XLAS) arises from pathogenic variants in COL4A5. Truncating variants are generally classified as severe, but whether clinically meaningful heterogeneity exists within this group remains unclear. This study aimed to establish a novel Col4a5 knock-in mouse model based on a clinical variant and to determine
Lin Y, Sun L, Li M, Kuang X, Gong X, Cai Q, Chen Y, Xu M, Huang W, Zeng F.   +9 more
europepmc   +2 more sources

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. [PDF]

PLoS ONE, 2017
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen.
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li   +15 more
doaj   +4 more sources

Identification of novel COL4A5 variants and prenatal diagnosis in three large families

Scientific Reports
Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in the genes of the α5 chains of collagen type IV (COL4A5). The early diagnosis and treatment are essential for the prognosis of AS.
Baitao Zeng, Yao Yu, Cong Liu, Xinyu Li, Qing Lu, Zhongfa Chen, Jia Chen, Jun Zou, Bicheng Yang, Yanqiu Liu, Yongyi Zou   +10 more
doaj   +3 more sources

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China [PDF]

Frontiers in Genetics
BackgroundAlport syndrome (AS) is an inherited disorder affecting basement membrane collagen IV. AS is characterized by hematuria and progressive renal failure, accompanied by high-frequency sensorineural deafness and ocular changes.
Cong Zhou, Cong Zhou, Yuanyuan Xiao, Yuanyuan Xiao, Xing Wei, Xing Wei, Jing Wang, Jing Wang, Shanling Liu, Shanling Liu   +9 more
doaj   +2 more sources

Generation of a COL4A5 heterozygous mutation human embryonic stem cell line (WAe009-A-58) using an episomal vector-based CRISPR/Cas9 system

Stem Cell Research, 2021
X-linked Alport syndrome (XLAS) is the second most common inherited kidney disease which pathogenic variants related to a mutation in the COL4A5 gene encoding the type IV collagen α5 chain.
Lei Tian, Fujian Wu, Rui Bai, Shuhong Ma, Huijuan Zheng, Wei jing Liu, Yaoxian Wang   +6 more
doaj   +1 more source

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

Frontiers in Genetics, 2021
Complement factor B (CFB) variants have been described to play a causative role in auto-immune associated C3 glomerulopathy (C3G) and/or atypical hemolytic uremic syndrome (aHUS) by affecting the dysregulations of alternative pathway activation. However,
Feng-mei Wang, Yan Yang, Xiao-liang Zhang, Yan-li Wang, Yan Tu, Bi-Cheng Liu, Bin Wang   +6 more
doaj   +1 more source

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

Frontiers in Genetics, 2023
Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities.
Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao   +3 more
doaj   +1 more source