Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome-Reference-Cited by-同舟云学术

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Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome

Published:2020-05 Issue:5 Volume:5 Page:718-726
ISSN:2468-0249
Container-title:Kidney International Reports
language:en
Short-container-title:Kidney International Reports

Author:

Kamura Misato,Yamamura Tomohiko,Omachi Kohei,Suico Mary Ann,Nozu Kandai,Kaseda Shota,Kuwazuru Jun,Shuto Tsuyoshi,Iijima Kazumoto,Kai Hirofumi

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Alport Syndrome Foundation

Kidney Foundation of Canada

Kumamoto University

JSPS

Publisher

Elsevier BV

Subject

Nephrology

Reference35 articles.

1. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990

2. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4);Jefferson;Nephrol Dial Transplant,1997

3. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome;Lemmink;Hum Mol Genet,1994

4. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene;Lemmink;J Clin Invest,1996

5. Autosomal recessive Alport syndrome:immunohistochemical study of type IV collagen chain distribution;Gubler;Kidney Int,1995

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic study of Alport syndrome in Tunisia;Pediatric Nephrology;2024-08-14

2. The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome;Frontiers in Genetics;2024-05-16

3. Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome;Clinical and Experimental Nephrology;2024-04-24

4. Heterotrimeric collagen peptides: design, characterization, and applications;SCIENTIA SINICA Chimica;2024-03-01

5. Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian Population;2023-11-28

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