Other

Genzyme Corporation

The Johns Hopkins University

University of Utah Research Foundation

Gregory M Landes

Timothy C Burn

Timothy D Connors

Mark T Keating

Igor Splawski

Michael C Sanguinetti

Katherine W Klinger

William R Dackowski

Mark E Curran

Gregory G Germino

Feng Qian

Qing K Wang

Terence J Van Raay

Terence Van Raay

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes ARE also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

KVLQT1&#x2014;a long QT syndrome gene

The present invention provides methods and compositions for treating cyst formation in PKD1-associated epithelial cells. Such methods encompass administering an isolated human PKD1 gene, or fragments of the gene, under conditions that result in expression of therapeutically effective amounts of all, or part of, the PKD1 protein. The invention also encompasses compositions for treating cyst formation associated with APKD.

Polycystic kidney disease gene

Diagnostic method for KVLQT1&mdash;a long QT syndrome gene

KVLQT1&mdash;a long QT syndrome gene

KVLQT1&mdash;a long qt syndrome gene

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes are also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1 protein or fragments thereof. In another aspect, the invention involves isolated oligonucleotides that hybridize only to the authentic expressed PKD1 gene, and not to PKD1 homologues. In yet another aspect, the invention involves isolated mutant PKD1 genes, and their cDNA cognates. Further provided are isolated oligonucleotides that discriminate between normal and mutant versions of the PKD1 gene. Methods and compositions for treating APKD or disease conditions having the characteristics of APKD are also provided.

Polycystic kidney disease gene and protein

In accordance with the present invention, there are provided isolated nucleic acids encoding a human netrin, a human ATP binding cassette transporter, a human ribosomal L3 subtype, and a human augmenter of liver regeneration as well as isolated protein products encoded thereby. The present invention provides nucleic acid probes that hybridize to invention nucleic acids as well as isolated nucleic acids comprising unique gene sequences located on chromosome 16. Further provided are vectors containing invention nucleic acids, host cells transformed therewith, as well as transgenic non-human mammals that express invention polypeptides. The present invention includes antisense oligonucleotides, antibodies and compositions containing same. Additionally, the invention provides methods for identifying compounds that bind to invention polypeptides.

Human chromosome 16 genes, compositions, methods of making and using same

This invention provides an isolated human netrin polypeptide. Netrins define a family of diffusable factors involved in axon outgrowth.

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Northboro, MA, United States of America

Gregory M Landes