ATE522621T1 - Diagnose und behandlung von williams syndrom - Google Patents
Diagnose und behandlung von williams syndromInfo
- 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
Links
- 206010049644 Williams syndrome Diseases 0.000 title abstract 7
- 238000003745 diagnosis Methods 0.000 title abstract 2
- 108010014258 Elastin Proteins 0.000 abstract 6
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 2
- 102000016942 Elastin Human genes 0.000 abstract 1
- 239000002876 beta blocker Substances 0.000 abstract 1
- 229940030611 beta-adrenergic blocking agent Drugs 0.000 abstract 1
- 238000002405 diagnostic procedure Methods 0.000 abstract 1
- 238000013399 early diagnosis Methods 0.000 abstract 1
- 229920002549 elastin Polymers 0.000 abstract 1
- 238000013160 medical therapy Methods 0.000 abstract 1
- 230000035772 mutation Effects 0.000 abstract 1
- 230000008506 pathogenesis Effects 0.000 abstract 1
- 230000002792 vascular Effects 0.000 abstract 1
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, e.g. tourniquets
- A61B17/22—Implements for squeezing-off ulcers or the like on the inside of inner organs of the body; Implements for scraping-out cavities of body organs, e.g. bones; Calculus removers; Calculus smashing apparatus; Apparatus 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
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Genetics & Genomics (AREA)
- General Health & Medical Sciences (AREA)
- Zoology (AREA)
- Biophysics (AREA)
- Wood Science & Technology (AREA)
- Medicinal Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Molecular Biology (AREA)
- Analytical Chemistry (AREA)
- Toxicology (AREA)
- Pharmacology & Pharmacy (AREA)
- Microbiology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Immunology (AREA)
- Gastroenterology & Hepatology (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Epidemiology (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (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)
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) | US5840489A (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)
| 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 |
| DK2016951T3 (da) | 1998-03-17 | 2012-09-24 | Genentech Inc | VEGF- og BMP1-homologe polypeptider |
| 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 |
| EP1192268B1 (de) * | 1999-06-25 | 2005-11-30 | Vlaams Interuniversitair Instituut voor Biotechnologie vzw. | Bindung mehrerer zinkfinger transkriptionsfaktoren an nukleinsäuren |
| US20030079236A1 (en) * | 1999-09-10 | 2003-04-24 | Comings David E. | Polymorphisms associated with internalizing disorders |
| AU783147B2 (en) * | 1999-10-07 | 2005-09-29 | Curagen Corporation | Novel polypeptides, their nucleic acids, and methods for their use in angiogenesis and vascularization |
| PT1255829E (pt) * | 2000-02-11 | 2009-11-26 | Genentech Inc | Inibidor do activador do factor de crescimento de hepatócitos para utilização na modulação da angiogénese e da cardiovascularização |
| US6395488B1 (en) * | 2000-04-28 | 2002-05-28 | City Of Hope | Cholecystokinin (CCK) gene as a risk factor for smoking in women |
| CA2709771A1 (en) | 2000-06-23 | 2002-01-03 | Genentech, Inc. | Compositions and methods for the diagnosis and treatment of disorders involving angiogenesis |
| EP2042597B1 (de) | 2000-06-23 | 2014-05-07 | Genentech, Inc. | Zusammensetzungen und Verfahren zur Diagnose und Behandlung von Erkrankungen in Verbindung mit Angiogenese |
| US20050130149A1 (en) * | 2001-10-25 | 2005-06-16 | Osborne Lucy R. | Method for williams-beuren syndrome diagnosis |
| US20060079439A1 (en) * | 2002-03-27 | 2006-04-13 | 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 |
| CA2518956A1 (en) | 2003-03-10 | 2004-09-23 | Applera Corporation | Single nucleotide polymorphisms associated with stenosis, methods of detection and uses thereof |
| EP1753875A2 (de) * | 2004-05-07 | 2007-02-21 | Applera Corporation | Genetische polymorphismen, die mit gefässerkrankungen einhergehen, nachweisverfahren und verwendung |
| AU2006255686A1 (en) | 2005-06-06 | 2006-12-14 | Genentech, Inc. | Transgenic models for different genes and their use for gene characterization |
| WO2007021423A2 (en) | 2005-08-15 | 2007-02-22 | Genentech, Inc. | Gene disruptions, compositions and methods relating thereto |
| ZA200804162B (en) | 2005-11-21 | 2009-12-30 | Genentech Inc | Novel gene disruptions, compositions and methods relating thereto |
| AU2007233263A1 (en) | 2006-02-17 | 2007-10-11 | Genentech, Inc. | Gene disruptons, compositions and methods relating thereto |
| WO2008036437A2 (en) | 2006-04-19 | 2008-03-27 | Genentech, Inc. | Novel gene disruptions, compositions and methods relating thereto |
-
1994
- 1994-04-04 WO PCT/US1994/003426 patent/WO1994023638A2/en active IP Right Grant
- 1994-04-04 EP EP05108543A patent/EP1612280B1/de not_active Expired - Lifetime
- 1994-04-04 EP EP94913974A patent/EP0694080B1/de not_active Expired - Lifetime
- 1994-04-04 AT AT94913974T patent/ATE312198T1/de not_active IP Right Cessation
- 1994-04-04 CA CA002158479A patent/CA2158479C/en not_active Expired - Lifetime
- 1994-04-04 JP JP6523220A patent/JPH08512198A/ja active Pending
- 1994-04-04 AT AT05108543T patent/ATE522621T1/de not_active IP Right Cessation
- 1994-04-04 DE DE69434566T patent/DE69434566T2/de not_active Expired - Lifetime
-
1995
- 1995-06-07 US US08/474,020 patent/US5840489A/en not_active Expired - Lifetime
- 1995-06-07 US US08/474,021 patent/US5650282A/en not_active Expired - Lifetime
Also Published As
| Publication number | Publication date |
|---|---|
| EP0694080B1 (de) | 2005-12-07 |
| EP0694080A4 (de) | 1998-08-05 |
| US5840489A (en) | 1998-11-24 |
| WO1994023638A3 (en) | 1994-12-08 |
| US5650282A (en) | 1997-07-22 |
| JPH08512198A (ja) | 1996-12-24 |
| CA2158479A1 (en) | 1994-10-27 |
| ATE312198T1 (de) | 2005-12-15 |
| EP0694080A1 (de) | 1996-01-31 |
| EP1612280A2 (de) | 2006-01-04 |
| EP1612280A3 (de) | 2009-05-20 |
| WO1994023638A2 (en) | 1994-10-27 |
| DE69434566T2 (de) | 2006-07-13 |
| CA2158479C (en) | 2009-07-07 |
| DE69434566D1 (de) | 2006-01-12 |
| EP1612280B1 (de) | 2011-08-31 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| RER | Ceased as to paragraph 5 lit. 3 law introducing patent treaties |