CA2409705A1 - Gene responsible for stargardt-like dominant macular dystrophy - Google Patents

Gene responsible for stargardt-like dominant macular dystrophy Download PDF

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Publication number
CA2409705A1
CA2409705A1 CA002409705A CA2409705A CA2409705A1 CA 2409705 A1 CA2409705 A1 CA 2409705A1 CA 002409705 A CA002409705 A CA 002409705A CA 2409705 A CA2409705 A CA 2409705A CA 2409705 A1 CA2409705 A1 CA 2409705A1
Authority
CA
Canada
Prior art keywords
elf
seq
protein
leu
val
Prior art date
Legal status (The legal status 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 status listed.)
Abandoned
Application number
CA002409705A
Other languages
English (en)
French (fr)
Inventor
Konstantin Petrukhin
Wen Li
Kang Zhang
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Johns Hopkins University
Merck and Co Inc
Original Assignee
Individual
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 Individual filed Critical Individual
Publication of CA2409705A1 publication Critical patent/CA2409705A1/en
Abandoned legal-status Critical Current

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Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00Drugs for disorders of the senses
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Physics & Mathematics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
CA002409705A 2000-05-16 2001-05-11 Gene responsible for stargardt-like dominant macular dystrophy Abandoned CA2409705A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US20499000P 2000-05-16 2000-05-16
US60/204,990 2000-05-16
PCT/US2001/015464 WO2001087921A2 (en) 2000-05-16 2001-05-11 Gene responsible for stargardt-like dominant macular dystrophy

Publications (1)

Publication Number Publication Date
CA2409705A1 true CA2409705A1 (en) 2001-11-22

Family

ID=22760322

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002409705A Abandoned CA2409705A1 (en) 2000-05-16 2001-05-11 Gene responsible for stargardt-like dominant macular dystrophy

Country Status (3)

Country Link
EP (1) EP1283897A4 (de)
CA (1) CA2409705A1 (de)
WO (1) WO2001087921A2 (de)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7297523B2 (en) 2000-11-29 2007-11-20 Xenon Pharmaceuticals Inc. Human elongase genes and uses thereof
WO2010011944A2 (en) 2008-07-25 2010-01-28 Wagner Richard W Protein screeing methods
WO2013166037A1 (en) 2012-05-01 2013-11-07 The Trustees Of Columbia University In The City Of New York Non-retinoid antagonists for treatment of eye disorders
WO2014152013A1 (en) 2013-03-14 2014-09-25 The Trustees Of Columbia University In The City Of New York 4-phenylpiperidines, their preparation and use
US9938291B2 (en) 2013-03-14 2018-04-10 The Trustess Of Columbia University In The City Of New York N-alkyl-2-phenoxyethanamines, their preparation and use
ES2700541T3 (es) 2013-03-14 2019-02-18 Univ Columbia Octahidrociclopentapirroles, su preparación y uso
WO2014151936A1 (en) 2013-03-14 2014-09-25 The Trustees Of Columbia University In The City Of New York Octahydropyrrolopyrroles, their preparation and use
DK4036094T3 (da) 2014-04-30 2026-03-23 Univ Columbia Erstattede 4-fenylpiperidiner, deres fremstilling og anvendelse

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU5394100A (en) * 1999-05-20 2000-12-12 Karolinska Innovations Ab Fatty acid elongation genes and uses thereof

Also Published As

Publication number Publication date
WO2001087921A2 (en) 2001-11-22
EP1283897A4 (de) 2004-08-04
EP1283897A2 (de) 2003-02-19
WO2001087921A3 (en) 2002-03-14

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