ATE522621T1 - Diagnose und behandlung von williams syndrom - Google Patents

Diagnose und behandlung von williams syndrom

Info

Publication number
ATE522621T1
ATE522621T1 AT05108543T AT05108543T ATE522621T1 AT E522621 T1 ATE522621 T1 AT E522621T1 AT 05108543 T AT05108543 T AT 05108543T AT 05108543 T AT05108543 T AT 05108543T AT E522621 T1 ATE522621 T1 AT E522621T1
Authority
AT
Austria
Prior art keywords
williams syndrome
elastin gene
elastin
diagnosis
gene
Prior art date
Application number
AT05108543T
Other languages
English (en)
Inventor
Mark T Keating
Mark F Leppert
Colleen A Morris
Original Assignee
Univ Utah Res Found
Nevada System Of Higher Education
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
Application filed by Univ Utah Res Found, Nevada System Of Higher Education filed Critical Univ Utah Res Found
Application granted granted Critical
Publication of ATE522621T1 publication Critical patent/ATE522621T1/de

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • 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
    • C07K14/78—Connective tissue peptides, e.g. collagen, elastin, laminin, fibronectin, vitronectin or cold insoluble globulin [CIG]
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B17/00—Surgical instruments, devices or methods
    • A61B17/22—Implements for squeezing-off ulcers or the like on inner organs of the body; Implements for scraping-out cavities of body organs, e.g. bones; for invasive removal or destruction of calculus using mechanical vibrations; for removing obstructions in blood vessels, not otherwise provided for
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6841—In situ hybridisation
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00—Chemistry: molecular biology and microbiology
    • Y10S435/968—High energy substrates, e.g. fluorescent, chemiluminescent, radioactive
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Immunology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pathology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physics & Mathematics (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biotechnology (AREA)
  • Epidemiology (AREA)
  • Microbiology (AREA)
  • Toxicology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
  • Measurement And Recording Of Electrical Phenomena And Electrical Characteristics Of The Living Body (AREA)
  • Electrotherapy Devices (AREA)
AT05108543T 1993-04-05 1994-04-04 Diagnose und behandlung von williams syndrom ATE522621T1 (de)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US4157693A 1993-04-05 1993-04-05

Publications (1)

Publication Number Publication Date
ATE522621T1 true ATE522621T1 (de) 2011-09-15

Family

ID=21917264

Family Applications (2)

Application Number Title Priority Date Filing Date
AT94913974T ATE312198T1 (de) 1993-04-05 1994-04-04 Diagnose und behandlung von supravalvular aortic stenosis
AT05108543T ATE522621T1 (de) 1993-04-05 1994-04-04 Diagnose und behandlung von williams syndrom

Family Applications Before (1)

Application Number Title Priority Date Filing Date
AT94913974T ATE312198T1 (de) 1993-04-05 1994-04-04 Diagnose und behandlung von supravalvular aortic stenosis

Country Status (7)

Country Link
US (2) US5650282A (de)
EP (2) EP1612280B1 (de)
JP (1) JPH08512198A (de)
AT (2) ATE312198T1 (de)
CA (1) CA2158479C (de)
DE (1) DE69434566T2 (de)
WO (1) WO1994023638A2 (de)

Families Citing this family (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5858662A (en) * 1993-04-05 1999-01-12 University Of Utah Research Foundation Diagnosis of Williams syndrome and Williams syndrome cognitive profile by analysis of the presence or absence of a LIM-kinase gene
US5672500A (en) * 1995-05-18 1997-09-30 Thomas Jefferson University Mch2, an apoptotic cysteine protease, and compositions for making and methods of using the same
EP1064382B1 (de) 1998-03-17 2008-08-20 Genentech, Inc. Zu vegf und bmp1 homologe polypeptide
US6903244B1 (en) 1999-02-26 2005-06-07 University Of Utah Research Foundation Mice which are +/− or −/− for the elastin gene as models for vascular disease
CA2370687A1 (en) * 1999-06-25 2001-01-04 Vlaams Interuniversitair Instituut Voor Biotechnologie Vzw Nucleic acid binding of multi-zinc finger transcription factors
US20030079236A1 (en) * 1999-09-10 2003-04-24 Comings David E. Polymorphisms associated with internalizing disorders
WO2001025433A2 (en) * 1999-10-07 2001-04-12 Genentech, Inc. Novel polypeptides, their nucleic acids, and methods for their use in angiogenesis and vascularization
ES2330918T3 (es) * 2000-02-11 2009-12-17 Genentech, Inc. Inhibidor del activador del factor de crecimiento de hepatocitos para usar en la modulacion de la angiogenesis y la cardiovascularizacion.
US6395488B1 (en) * 2000-04-28 2002-05-28 City Of Hope Cholecystokinin (CCK) gene as a risk factor for smoking in women
EP2075253A1 (de) 2000-06-23 2009-07-01 Genentech, Inc. Methoden und Verbindungen zur Diagnose und Behandlung von Krankheiten, an denen Angiogenese beteiligt ist
DK2042597T3 (da) 2000-06-23 2014-08-11 Genentech Inc Sammensætninger og fremgangsmåder til diagnose og behandling af sygdomme, der involverer angiogenese
CA2464608A1 (en) * 2001-10-25 2003-05-01 The Hospital For Sick Children Method for williams-beuren syndrome diagnosis
WO2003082203A2 (en) * 2002-03-27 2003-10-09 University Of Utah Research Foundation Elastin prevents occlusion of body vessels by vascular smooth muscle cells
TWI299663B (en) * 2002-05-14 2008-08-11 Novartis Ag Methods of treatment
JP2009521904A (ja) * 2003-03-10 2009-06-11 アプレラ コーポレイション 狭窄に関連する一塩基多型、その検出方法および使用
CA2566257A1 (en) * 2004-05-07 2005-11-24 Applera Corporation Genetic polymorphisms associated with vascular diseases, methods of detection and uses thereof
EP1871163A2 (de) 2005-06-06 2008-01-02 Genentech, Inc. Transgene tiermodelle und deren verwendung zur gencharakterisierung
JP2009504183A (ja) 2005-08-15 2009-02-05 ジェネンテック・インコーポレーテッド 遺伝子破壊、それに関連する組成物および方法
AU2006335053A1 (en) 2005-11-21 2007-07-19 Genentech, Inc. Novel gene disruptions, compositions and methods relating thereto
CA2638821A1 (en) 2006-02-17 2007-10-11 Genentech, Inc. Gene disruptons, compositions and methods relating thereto
EP2010662A2 (de) 2006-04-19 2009-01-07 Genentech, Inc. Neuartige genunterbrechungen, dazugehörige zusammensetzungen und verfahren

Also Published As

Publication number Publication date
EP1612280A3 (de) 2009-05-20
EP1612280A2 (de) 2006-01-04
CA2158479C (en) 2009-07-07
US5840489A (en) 1998-11-24
US5650282A (en) 1997-07-22
DE69434566D1 (de) 2006-01-12
EP1612280B1 (de) 2011-08-31
EP0694080A1 (de) 1996-01-31
EP0694080A4 (de) 1998-08-05
CA2158479A1 (en) 1994-10-27
ATE312198T1 (de) 2005-12-15
WO1994023638A3 (en) 1994-12-08
EP0694080B1 (de) 2005-12-07
WO1994023638A2 (en) 1994-10-27
DE69434566T2 (de) 2006-07-13
JPH08512198A (ja) 1996-12-24

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