Human-Specific Abnormal Alternative Splicing of Wild-Type PKD1 Induces Premature Termination of Polycystin-1

BACKGROUND: The major form of autosomal dominant polycystic kidney disease is caused by heterozygous mutations in PKD1, the gene that encodes polycystin-1 (PC1). Unlike PKD1 genes in the mouse and most other mammals, human PKD1 is unusual in that it contains two long polypyrimidine tracts in introns...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Lea, Wendy A., Parnell, Stephen C., Wallace, Darren P., Calvet, James P., Zelenchuk, Lesya V., Alvarez, Nehemiah S., Ward, Christopher J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2018
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6171280/
https://ncbi.nlm.nih.gov/pubmed/30185468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2018040442
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