WO1995034649A3 - Polycystic kidney disease 1 gene and uses thereof - Google Patents

Polycystic kidney disease 1 gene and uses thereof Download PDF

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Publication number
WO1995034649A3
WO1995034649A3 PCT/GB1995/001386 GB9501386W WO9534649A3 WO 1995034649 A3 WO1995034649 A3 WO 1995034649A3 GB 9501386 W GB9501386 W GB 9501386W WO 9534649 A3 WO9534649 A3 WO 9534649A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
kidney disease
polycystic kidney
pkd1
disease
Prior art date
Application number
PCT/GB1995/001386
Other languages
French (fr)
Other versions
WO1995034649A2 (en
Inventor
Peter Charles Harris
Belen Peral
Christopher James Ward
James Hughes
Martin Hendrik Breuning
Dorothea Johanna Maria Peters
Jeroen Hendrik Roelfsema
Julian Sampson
Dirkje Jorijntje Johann Halley
Mark David Nellist
Lambertus Antonius Jac Janssen
Arjenne Ligue Wilhel Hesseling
Original Assignee
Medical Res Council
Univ Leiden
Univ Wales Medicine
Univ Erasmus
Peter Charles Harris
Belen Peral
Christopher James Ward
James Hughes
Martin Hendrik Breuning
Dorothea Johanna Maria Peters
Jeroen Hendrik Roelfsema
Julian Sampson
Dirkje Jorijntje Johann Halley
Mark David Nellist
Lambertus Antonius Jac Janssen
Arjenne Ligue Wilhel Hesseling
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority claimed from GB9411900A external-priority patent/GB9411900D0/en
Priority claimed from PCT/GB1994/002822 external-priority patent/WO1995018225A1/en
Priority claimed from GBGB9507766.5A external-priority patent/GB9507766D0/en
Application filed by Medical Res Council, Univ Leiden, Univ Wales Medicine, Univ Erasmus, Peter Charles Harris, Belen Peral, Christopher James Ward, James Hughes, Martin Hendrik Breuning, Dorothea Johanna Maria Peters, Jeroen Hendrik Roelfsema, Julian Sampson, Dirkje Jorijntje Johann Halley, Mark David Nellist, Lambertus Antonius Jac Janssen, Arjenne Ligue Wilhel Hesseling filed Critical Medical Res Council
Priority to AU28921/95A priority Critical patent/AU2892195A/en
Priority to EP95924411A priority patent/EP0777728A1/en
Publication of WO1995034649A2 publication Critical patent/WO1995034649A2/en
Publication of WO1995034649A3 publication Critical patent/WO1995034649A3/en

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides

Abstract

The present invention relates to the polycystic kidney disease 1 (PKD1) gene and its nucleic acid sequence, mutations thereof in patients having PKD1-associated disorders, the protein encoded by the PKD1 gene or its mutants, and their uses in disease diagnosis and therapy.
PCT/GB1995/001386 1994-06-14 1995-06-13 Polycystic kidney disease 1 gene and uses thereof WO1995034649A2 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU28921/95A AU2892195A (en) 1994-06-14 1995-06-13 Polycystic kidney disease 1 gene and uses thereof
EP95924411A EP0777728A1 (en) 1994-06-14 1995-06-13 Polycystic kidney disease 1 gene and uses thereof

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
GB9411900A GB9411900D0 (en) 1994-06-14 1994-06-14 Dna sequence encoding the polycystic kidney disease 1 gene and uses thereof
GB9411900.5 1994-06-14
PCT/GB1994/002822 WO1995018225A1 (en) 1993-12-24 1994-12-23 Polycystic kidney disease 1 gene and uses thereof
GBPCT/GB94/02822 1994-12-23
GBGB9507766.5A GB9507766D0 (en) 1995-04-13 1995-04-13 The polycystic kidney disease 1 (PKD1) gene and protein
GB9507766.5 1995-04-13
US08/422,582 US6485960B1 (en) 1993-12-24 1995-04-14 Polycystic kidney disease 1 gene and uses thereof
US08/422,582 1995-04-14

Publications (2)

Publication Number Publication Date
WO1995034649A2 WO1995034649A2 (en) 1995-12-21
WO1995034649A3 true WO1995034649A3 (en) 1996-01-04

Family

ID=56289643

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB1995/001386 WO1995034649A2 (en) 1994-06-14 1995-06-13 Polycystic kidney disease 1 gene and uses thereof

Country Status (3)

Country Link
EP (1) EP0777728A1 (en)
AU (1) AU2892195A (en)
WO (1) WO1995034649A2 (en)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6867288B1 (en) * 1994-10-12 2005-03-15 Genzyme Corporation Polycystic kidney disease gene
US6071717A (en) * 1995-01-31 2000-06-06 Genzyme Corporation Polycystic kidney disease gene and protein
WO1997044457A1 (en) * 1996-05-24 1997-11-27 Genzyme Corporation Polycystic kidney disease gene
DE19650758C1 (en) * 1996-12-06 1998-01-02 Deutsches Krebsforsch PKD1 protein fragments, DNA and antibodies
GB9812534D0 (en) * 1998-06-10 1998-08-05 Medical Res Council Sperm protein
US6469088B1 (en) 2000-11-02 2002-10-22 Equistar Chemicals, Lp Polyolefin insulation compositions having improved oxidative stability

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995018225A1 (en) * 1993-12-24 1995-07-06 Medical Research Council Polycystic kidney disease 1 gene and uses thereof

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1995018225A1 (en) * 1993-12-24 1995-07-06 Medical Research Council Polycystic kidney disease 1 gene and uses thereof

Non-Patent Citations (14)

* Cited by examiner, † Cited by third party
Title
"The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. [Erratum to document cited in CA121:150194]", CELL (CAMBRIDGE, MASS.) (1995), 81(7), 1171 CODEN: CELLB5;ISSN: 0092-8674 *
A. GRIFFITHS ET AL: "An introduction to genetic analysis", W. FREEMAN AND COMPANY, NEW YORK *
BURN, TIMOTHY C. ET AL: "Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat", HUM. MOL. GENET. (1995), 4(4), 575-82 CODEN: HMGEE5;ISSN: 0964-6906 *
C. WARD ET AL: "The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16", CELL, vol. 77, 17 June 1994 (1994-06-17), pages 881 - 894 *
EMBL DATABASE, Accession no T05931 sequence reference HS9312, August 30, 1993, M. ADAMS et al., '3400 Expressed sequnce tags identify diversity of *
EMBL DATABASE, Accession no T09245 sequnce reference T09245, August 7 1993 M. ADAMS et al 'Rapid cDNA sequencing (expresserd sequence tags).... *
EMBL DATABASE, Accession no. T04943 sequence reference HS9431, August 30, *
G. GERMINO ET AL: "A novel approach to the identification of the PKD1 gene", J. AM. SOC. NEPHROL., vol. 4, no. 3, pages 814 *
G. GERMINO ET AL: "Positional cloning approach to the dominant polycystic kidney disease gene, PKD1", KIDNEY INTERNATIONAL, vol. 43, no. supp 3, 19 May 1993 (1993-05-19), pages s20 - s25 *
G. GERMINO ET AL: "The gene for autosomal dominant polycystic kidney disease.....", GENOMICS, vol. 13, pages 144 - 151 *
GLUECKSMANN-KUIS, M. ET AL: "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein", CELL (CAMBRIDGE, MASS.) (1995), 81(2), 289-98 CODEN: CELLB5;ISSN: 0092-8674, 21 April 1995 (1995-04-21) *
J. MULLEY ET AL: "Integrating maps of chromosome 16", CURRENT OPINION IN GENETICS AND DEVELOPMENT, vol. 3, pages 425 - 431 *
NATURE GENETICS, vol. 4, pages 256 - 267 *
NATURE GENETICS, vol. 4, pages 373 - 380 *

Also Published As

Publication number Publication date
WO1995034649A2 (en) 1995-12-21
EP0777728A1 (en) 1997-06-11
AU2892195A (en) 1996-01-05

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