ArticleAmerican journal of human genetics1997
Mutation detection in the repeated part of the PKD1 gene.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 39 citations in OpenAlex.
- Editorial: Sub-molecular mechanism of genetic epilepsy.Frontiers in molecular neuroscience · 2022Article
- Article
- Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.Pflugers Archiv : European journal of physiology · 2014Article
- High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).Journal of clinical laboratory analysis · 2014Article
- Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.American journal of human genetics · 2001Article
- Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.American journal of human genetics · 1999Article
- Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.American journal of human genetics · 1999Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.
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