Results 61 to 70 of about 4,380 (145)

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series

International Journal of Nephrology and Renovascular Disease
Yang Li,1 Xue Yan,2 Zhen Luo,1 Xianxian Fu,1 Zhongju Li,1 Qiuzhu Xu,3 Juanjuan Chen,1 Jingmin Yang,2,4,5 Daru Lu4,5 1Department of Nephropathy, Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Hainan, People’s Republic of ...
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D   +8 more
doaj  

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

, 2020
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies.
Jinzhong Yuan, Jingjing Xiao, Zhaoyang Zeng, Fengping Xu, Xiong Deng, Xiaofei Xiu, Sheng Deng, Hongbo Xu, Liping Guan   +8 more
core  

Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.

, 2016
Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.
Hee Gyung Kang (3120111), Mato Nagel (6470), Hae Il Cheong (191547), Eujin Park (3120096), Jens Michael Hertz (2636689), Judith Savige (3120114), Dongmao Wang (3120108), Anton Persikov (3120117), Carmen Torres-Fernandez (3120120), Roser Torra (332940), Frances Flinter (3120102), Pascale Hilbert (3120105), Lev Shagam (3120093), Mads Thomassen (395200), Helen Storey (3120099), Elisabet Ars (129410), Yanyan Wang (329749)   +16 more
core   +1 more source

Familial hematuria: A review

Medicina, 2017
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations.
Pavlína Plevová, Josef Gut, Jan Janda
doaj   +1 more source

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations

Kidney International Reports, 2017
X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations ...
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S. Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige   +8 more
doaj   +1 more source

The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons [PDF]

, 1996
The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons. To determine the spectrum of mutations of the COL4A5 gene encoding type IV collagen among Japanese Alport syndrome (AS) patients, 60 unrelated patients (47 males ...
Japanese Alport Network,, Nomura, Shinsuke, Osawa, Gengo, Harano, Teruo, Harano, Keiko, Kawai, Shinichiro, Fukushima, Tatsuo   +6 more
core   +1 more source

Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.

, 2016
Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.
Hee Gyung Kang (3120111), Mato Nagel (6470), Hae Il Cheong (191547), Eujin Park (3120096), Jens Michael Hertz (2636689), Judith Savige (3120114), Dongmao Wang (3120108), Anton Persikov (3120117), Carmen Torres-Fernandez (3120120), Roser Torra (332940), Frances Flinter (3120102), Pascale Hilbert (3120105), Lev Shagam (3120093), Mads Thomassen (395200), Helen Storey (3120099), Elisabet Ars (129410), Yanyan Wang (329749)   +16 more
core   +1 more source

COL4A5 gene mutation associated Alport's syndrome in a two-year old boy: a case report

, 2020
Background: Alport's disease is an inherited disorder which may lead to End Stage Renal Disease, hearing loss and ocular abnormalities. It is as a result of mutations in COL4A3, COL4A4 and COL4A5 genes leading to collagen type 4 abnormalities in the ...
Admani, B.
core  

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

, 1994
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport ...
MASCHIO, Giuseppe, S. Li Volti, A. Renieri, M. De Marchi, L. Galli, F. Mollica, P. Pignatti, De Marchi, Mario, B. Peissel, S. Rossetti, LUPO, Antonio   +10 more
core   +1 more source

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

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   +1 more source