Identification of polycystic kidney disease gene, diagnostics an

Details Identification of polycystic kidney disease gene, diagnostics an Identification of polycystic kidney disease gene, diagnostics an

1995-06-02

1999-04-06

Huff, Sheela

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 71, 435 79, 436578, 5303871, 5303879, 5303891, 5303881, C12Q 168

Patent

active

058916288

ABSTRACT:
The present invention relates to the identification of the autosomal dominant polycystic kidney disease (PKD) gene and high throughput assays to identify compounds that interfere with PKD activity. Interfering compounds that inhibit the expression, synthesis and/or bioactivity of the PKD gene product can be used therapeutically to treat polycystic kidney disease.

REFERENCES:
patent: 5654170 (1997-08-01), Klinger et al.
Reeders, S. et al., 1989, "Mapping the Locus of Autosomal Dominant Polycystic Kidney Disease: Diagnostic Application", Clin. Chem. 35(7B):B13-B16.
Himmelbauer, H. et al., 1992, "Human-Mouse Homologies in the Region of the Polycystic Kidney Disease Gene (PKD1)", Genomics 13:35-38.
Wright, A. et al., 1993, "A Study of Genetic Linkage Heterogeneity in 35 Adult-Onset Polycystic Kidney Disease Families", Hum. Genet. 90:569-571.
Kimberling, W. et al., 1993, "Autosomal Dominant Polycystic Kidney Disease: Localization of the Second Gene to Chromosome 4q13-q23", Genomics 18:467-472.
Reeders, S. et al., 1985, "A Highly Polymorphic DNA Marker Linked to Adult Polycystic Kidney Disease on Chromosome 16", Nature 317:542-544.
Reeders, S. et al., 1988, "Regional Localization of the Autosomal Dominant Polycystic Kidney Disease Locus", Genomics 3:150-155.
Kaspareit-Rittinghausen, J., et al., 1989, "Hereditary Polycystic Kidney Disease Associated with Osteorenal Syndrome in Rats", Vet. Pathol. 26:195-201.
Breuning, M. et al., 1990, "Map of 16 Polymorphic Loci on the Short Arm of Chromosome 16 Close to the Polycystic Kidney Disease Gene (PKD1)", J. Med. Genet. 27:603-613.
Gabow, P., 1990, "Autosomal Dominant Polycystic Kidney Disease--More Than a Renal Disease", Am. J. Kidney Dis. 16:403-413.
Germino, G. et al., 1990, "Identification of a Locus Which Shows No Genetic Recombination with the Autosomal Dominant Polycystic Kidney Disease Gene on Chromosome 16", Am. J. Hum. Genet. 46:925-933.
Gillespie, G. et al., 1990, "Cosmid Walking and Chromosome Jumping in the Region of PKD1 Reveals a Locus Duplication and Three CpG Islands", Nucl. Acids Res. 18:7071-7075.
Wilson, P. et al., 1991, "Reversed Polarity of Na.sup.+ -K.sup.+ -ATPase: Mislocation to Apical Plasma Membranes in Polycystic Kidney Disease Epithelia", Am. J. Physiol. 260:F420-F430.
Germino, G. et al., 1992, "The Gene for Autosomal Dominant Polycystic Kidney Disease Lies in a 750-kb CpG-Rich Region", Genomics 13:144-151.
Reeders, S., 1992, "Multilocus Polycystic Disease", Nature Genetics 1:235-238.
Somlo, S. et al., 1992, "Fine Genetic Localization of the Gene for Autosomal Dominant Polycystic Kidney Disease (PKD1) with Respect to Physically Mapped Markers", Genomics 13:152-158.
The European Chromosome 16 Tuberous Sclerosis Consortium, 1993, "Identification and Characterization of the Tuberous Sclerosis Gene on Chromosome 16", Cell 75:1305-1315.
Carone, F. et al., 1994, "Biology of Polycystic Kidney Disease", Lab. Investigation 70:437-448.
The European Polycystic Kidney Disease Consortium, 1994, "The Polycystic Kidney Disease 1 Gene Encodes a 14 kb Transcript and Lies within a Duplicated Region on Chromosome 16", Cell 77:881-894. Errata published in Cell 78(4), (1994) and Cell 81(7), 1995.
Wunderle, V. et al., 1994, "Breakpoint Break for Consortium Studying Adult Polycystic Kidney Disease", Cell 77:785-786.
The American PKD1 Consortium, 1995, "Analysis of the Genomic Sequence for the Autosomal Dominant Polycystic Kidney Disease (PKD1) Gene Predicts the Presence of a Leucine-Rich Repeat", Human Molec. Genetics 4:575-582.
Hughes, J. et al., 1995, "The Polycystic Kidney Disease 1 (PKD1) Gene Encodes a Novel Protein with Multiple Cell Recognition Domains", Nature Genetics 10:151-159.
Adams, M. et al., 1993, "3,400 New Expressed Sequence Tags Identify Diversity of Transcripts in Human Brain", Nature Genetics 4:256-267.
Campbell, Monoclonal Antibody Technology, ed. Elsiever Science Publishers p. 1-32, 1986.
European Polycystic Kidney Disease Consortium Cell vol. 77 p. 881, Jun. 1994.

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