The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I
Open accessAbstract
Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an important cause of renal failure. It is characterized by considerable intrafamilial phenotypic variation and focal cyst formation. To elucidate the molecular basis for these observations, we have developed a novel method for isolating renal cystic epithelia from single cysts and have used it to show that individual renal cysts in ADPKD are monoclonal. Loss of heterozygosity was discovered within a subset of cysts for two closely linked polymorphic markers located within the PKD1 gene. Genetic analysis revealed that it was the normal haplotype that was lost. This study provides a molecular explanation for the focal nature of cyst formation and a probable mechanism whereby mutations cause disease. The high rate at which "second hits" must occur to account for the large number of cysts observed suggests that unique structural features of the PKD1 gene may be responsible for its mutability.
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Langerhans'-Cell Histiocytosis (Histiocytosis X) -- A Clonal Proliferative Disease
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Autosomal Dominant Polycystic Kidney Disease
Gabow, P. A. (1993) · New England Journal of Medicine · doi:10.1056/nejm199307293290508 · Cited by 974
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A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
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Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
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Cited by
Autosomal dominant polycystic kidney disease
Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550
Wilson, P. D. (2004) · New England Journal of Medicine · doi:10.1056/nejmra022161 · Cited by 916
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Genetics and Pathogenesis of Polycystic Kidney Disease
Igarashi, P., & Somlo, S. (2002) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000028643.17901.42 · Cited by 593
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
Hopp, K., Ward, C. J., Hommerding, C. J., Nasr, S. H., Tuan, H.-F., Gainullin, V. G., Rossetti, S., Torres, V. E., & Harris, P. C. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64313 · Cited by 442
Metadata
- Authors
- Qian, F., Watnick, T. J., Onuchic, L. F., & Germino, G. G.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1996-12
- Volume
- 87
- Issue
- 6
- Pages
- 979-987
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2088811685
- Cited by
- 615
- References
- 32
- FWCI
- 16.65
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I. https://app.cochat.ai/papers/10.1016/s0092-8674(00)81793-6
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- Qian, F., Watnick, T. J., Onuchic, L. F., & Germino, G. G. (1996). The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I. Cell. https://doi.org/10.1016/s0092-8674(00)81793-6
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
