Results 101 to 110 of about 2,525,206 (182)

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

Front Pediatr, 2022
Qian P, Bao Y, Huang HM, Suo L, Han Y, Li ZJ, Zhang M.   +6 more
europepmc   +1 more source

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

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
doaj   +1 more source

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  

Distribution of missense variants in the COL4A5 gene in each exon corrected for exon size and demonstrating a non-uniform distribution.

, 2016
Distribution of missense variants in the COL4A5 gene in each exon corrected for exon size and demonstrating a non-uniform distribution.
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

Construction of a yeast artificial chromosome contig encompassing the human alpha 5(IV) collagen gene (COL4A5)

, 1992
A PCR-based screening approach was used to isolate six yeast artificial chromosome (YAC) clones containing segments of the human alpha 5(IV) collagen gene (COL4A5).
Vetrie, David, Harris, Ann, Flinter, Frances, Bobrow, Martin   +3 more
core   +1 more source

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

BMC Medical Genomics
Background Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3–5 chains of type IV collagen
Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li   +5 more
doaj   +1 more source

COL4A5 Gene [PDF]

, 2020
openaire   +1 more source

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells. [PDF]

Eur J Hum Genet, 2020
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM.   +16 more
europepmc   +1 more source

Col4a5 mouse glomerular extracellular matrix

, 2022
Alport mouse model (Col4a5) have been submitted for proteomic analysis. Glomeruli have been isolated from mouse kidneys, extracellular matrix has been enriched and analysed by mass ...
Division of Cell Matrix Biology & Regenerative Medicine (L5), Lennon, Rachel; id_orcid   +1 more
core  

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families. [PDF]

Eur J Hum Genet, 2020
Zhang Y, Ding J, Wang S, Zhang H, Zhong X, Liu X, Xu K, Wang F.   +7 more
europepmc   +1 more source