Results 161 to 170 of about 2,525,206 (182)

ADPKD and Collagen Genes (COL4A3, COL4A4, COL4A5)

Journal of the American Society of Nephrology, 2023
Carlotta Caprara, Valentina Corradi, Matteo Rigato, Barbara Mancini, Nenzi Marzano, Omar Perbellini, Fiorella Gastaldon, Claudio Ronco, Monica Zanella   +8 more
openaire   +1 more source

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To explore the genetic basis for a pedigree affected with Alport syndrome.Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls.A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected ...
Xiaowei, Liu, Ming, Gao, Yang, Zou, Lijuan, Wang, Ranran, Kang, Peiwen, Xu, Yuping, Niu, Sexin, Huang, Jie, Li, Hongqiang, Xie, Yuan, Gao   +10 more
openaire   +1 more source

Potentially Clinically Relevant Variant of Uncertain Significance in the COL4A5 Gene

Journal of the American Society of Nephrology, 2022
Teresa Trinka, Kerry Gaj, Quinn P. Stein, Sumit Punj, Mohammed Khurram Faizan   +4 more
openaire   +1 more source

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

American journal of human genetics, 1997
Alport syndrome is a mainly X-linked hereditary disease of basement membranes that is characterized by progressive renal failure, deafness, and ocular lesions. It is associated with mutations of the COL4A5 gene located at Xq22 and encoding the alpha5 chain of type IV collagen.
B, Knebelmann, C, Breillat, L, Forestier, C, Arrondel, D, Jacassier, I, Giatras, L, Drouot, G, Deschênes, J P, Grünfeld, M, Broyer, M C, Gubler, C, Antignac   +11 more
openaire   +1 more source

[X-linked thin basement membrane nephropathy was linked with COL4A5 gene].

Zhonghua yi xue za zhi, 2002
To genetically analyze 9 thin basement membrane nephropathy (TBMN) pedegrees using microsatellite marker 2B6 and DXS101 closely linked with COL4A5 gene located on chromosome X.Genomic DNA was extracted. Highly polymorphic microsatellite markers (2B6 and DXS101) closely linked with COL4A5 gene located on chromosome X were amplified with PCR.
C, Zhang, S, Zhu, Y, Zhang
openaire   +1 more source

Gene symbol: COl4A5. Disease: Alport Syndrome.

Human genetics, 2008
Judy, Savige, Rachael, Tan, Deb, Colville, Yanyan, Wang, Lyn, Rigby, John D, Oarkin, Ninan, Mathew, Judy, Savige   +7 more
  +6 more sources

Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response to renin-angiotensin-aldosterone system blockers in Chinese male patients with Alport syndrome

Nephrology Dialysis Transplantation, 2022
Zhi-hong Liu, Xianghua Huang, Chunxia Zheng   +2 more
exaly  

Gene symbol: COL4A5. Disease: Alport syndrome.

Human genetics, 2005
NERI, Tauro Maria, SEBASTIO P.
openaire   +2 more sources

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

Human Mutation, 1995
Ann Harris, Jing Zhou, Frances Flinter
exaly  

Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.

Nephrology Dialysis Transplantation, 2011
Yingyu Wang, Weiming Wang, Xiaoxia Pan
exaly