Results 41 to 50 of about 4,380 (145)

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

Scientific Reports, 2021
Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing.
Xiaoyuan Wang, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report

Human Genome Variation, 2022
Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations.
Naonori Kumagai, Yuji Matsumoto, Tomomi Kondoh, Yohei Ikezumi   +3 more
doaj   +1 more source

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

Frontiers in Medicine, 2023
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Wei-qing Wu, 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   +9 more
doaj   +1 more source

X-Linked Glomerulopathy Due to COL4A5 Founder Variant

, 2018
Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases.
Bedra Sharif, Lajoie-Starkell, G, Wuttke, M, Sharif B., Roslin N. M., Sharif, B, Hack S., Daniel Cattran, Kottgen, A, Anna Köttgen, Li, Weili, Hack, S, Schwaderer, Al, Matthias Wuttke, Cattran D., Andrew D. Paterson, Roslin, Nm, Paterson A. D., Stella, Lorenzo, Stella, L, Becknell, Brian, Wuttke, Matthias, John, R, Pei, Y, Sharif, Bedra, Rohan John, Lajoie-Starkell, Ginette, Ginette Lajoie-Starkell, Andrew L. Schwaderer, Li W., Wuttke M., Nicole M. Roslin, Schwaderer A. L., Roslin, Nicole M., John R., Barua, M, Lorenzo Stella, Barua, Moumita, York Pei, Cattran, D, Köttgen, Anna, Moumita Barua, Hack, Saidah, Becknell, B, Pei Y., Cattran, Daniel, Becknell B., Paterson, Andrew D., Paterson, Ad, Saidah Hack, Barua M., Brian Becknell, Weili Li, Schwaderer, Andrew L., Kottgen A., Stella L., Lajoie-Starkell G., Li, W, Pei, York, John, Rohan   +59 more
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Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR ...
Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong   +7 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene

Stem Cell Research, 2020
X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c.
Lei Sun, Jing Zhang, Xin-yu Kuang, Yu-lin Kang, Ying Wu, Wen-yan Huang   +5 more
doaj   +1 more source

MyGene2 automated match report: COL4A5

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect ...
The MyGene2 team (3237057)
core   +1 more source

Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption [PDF]

, 2011
A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome.
Kim L. McBride, David S. Hains, Houston, Ronald, Borza, Dorin-Bogdan, Zender, Gloria A., Hains, David S., Peter B. Baker, Brian Becknell, Becknell, Brian, Gloria A. Zender, Baker, Peter B., Schwaderer, Andrew L., Ronald Houston, Luo, Wentian, Dorin-Bogdan Borza, Wentian Luo, McBride, Kim L., Andrew L. Schwaderer   +17 more
core   +1 more source

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice

Molecular Medicine
X-linked Alport syndrome (XLAS) caused by X-linked COL4A5 gene mutation is a hereditary disease that affects mainly the kidney. XLAS patients, especially males whose single copy of the COL4A5 gene is disrupted, suffer from a life-threatening renal ...
Yantao Bao, Weiqing Wu, Jiyun Lin, Yuankai Yang, Sheng Lin, Jindi Su, Yueyuan Qin, Baojiang Wang, Shan Duan   +8 more
doaj   +1 more source

Table_1_A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.xlsx

, 2023
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Shan Duan (53493), Jia-xun Zhang (14758354), Ming-chao Zhang (14758360), Ying-xia Cui (14758357), Xiao-hang Chen (14758363), Cai-hong Zeng (14758366), Pei-ning Li (14758369), Xiao-jun Li (4333), Wei-qing Wu (14758351)   +8 more
core   +1 more source