Results 1 to 10 of about 4,380 (145)

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

Frontiers in Pediatrics, 2023
X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation.
Nengqing Liu, Xiaojun Wen, Zhanhui Ou, Xiaowu Fang, Jing Du, Xiufeng Lin, Xiufeng Lin   +6 more
doaj   +2 more sources

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   +2 more sources

Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR

Frontiers in Medicine, 2022
BackgroundAlport syndrome is a hereditary glomerulopathy featured by haematuria, proteinuria, and progressive renal failure. X-linked Alport syndrome (XLAS) due to COL4A5 disease-causing variants is the most common form.
Yanqin Zhang
exaly   +3 more sources

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

Frontiers in Medicine, 2022
X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura, Rachel Lennon, Kandai Nozu   +2 more
exaly   +3 more sources

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

Frontiers in Medicine
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Kar-Hui Ng, Jun Li Ng, Mya Than
exaly   +3 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

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, Shenghui Liang, Shijia Xing, Ke Xu, Huijie Xiao, Haiyue Deng, Xiaoyuan Wang, Liangyi Chen, Jie Ding, Fang Wang   +9 more
doaj   +1 more source

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, Dan Zhao, Jie Ding, Xuejuan Li   +3 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, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel   +16 more
doaj   +1 more source