CA2647086C - Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez - Google Patents

Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez Download PDF

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Publication number
CA2647086C
CA2647086C CA2647086A CA2647086A CA2647086C CA 2647086 C CA2647086 C CA 2647086C CA 2647086 A CA2647086 A CA 2647086A CA 2647086 A CA2647086 A CA 2647086A CA 2647086 C CA2647086 C CA 2647086C
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Prior art keywords
jak2
variant
cell
leu
mutation
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Expired - Lifetime
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CA2647086A
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English (en)
French (fr)
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CA2647086A1 (fr
Inventor
William Vainchenker
Valerie Ugo
Chloe James
Jean-Pierre Le Couedic
Nicole Casadevall
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.)
Institut Gustave Roussy
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé et de la Recherche Médicale
Versailles Saint-Quentin-en-Yvelines University
Université Paris-Saclay
Original Assignee
Institut Gustave Roussy
Assistance Publique - Hôpitaux de Paris
Institut National de la Santé et de la Recherche Médicale
Versailles Saint-Quentin-en-Yvelines University
Université Paris-Sud
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Application filed by Institut Gustave Roussy, Assistance Publique - Hôpitaux de Paris, Institut National de la Santé et de la Recherche Médicale, Versailles Saint-Quentin-en-Yvelines University, Université Paris-Sud filed Critical Institut Gustave Roussy
Priority to CA2754028A priority Critical patent/CA2754028A1/fr
Publication of CA2647086A1 publication Critical patent/CA2647086A1/fr
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    • C—CHEMISTRY; METALLURGY
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    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P19/00—Drugs for skeletal disorders
    • A61P19/08—Drugs for skeletal disorders for bone diseases, e.g. rachitism, Paget's disease
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • C12N9/1205—Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
    • 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
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/575—Immunoassay; Biospecific binding assay; Materials therefor for cancer
    • G01N33/57505—Immunoassay; Biospecific binding assay; Materials therefor for cancer of the blood, e.g. leukaemia
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/575—Immunoassay; Biospecific binding assay; Materials therefor for cancer
    • G01N33/5758—Immunoassay; Biospecific binding assay; Materials therefor for cancer involving compounds serving as markers for tumours, cancers or neoplasias, e.g. cellular determinants, receptors, heat shock/stress proteins, A-protein, oligosaccharides or metabolites
    • G01N33/57595—Immunoassay; Biospecific binding assay; Materials therefor for cancer involving compounds serving as markers for tumours, cancers or neoplasias, e.g. cellular determinants, receptors, heat shock/stress proteins, A-protein, oligosaccharides or metabolites involving intracellular compounds
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G01N2333/91—Transferases (2.)
    • G01N2333/912—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • G01N2333/91205—Phosphotransferases in general
    • G01N2333/9121—Phosphotransferases in general with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases
    • G01N2333/91215—Phosphotransferases in general with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases with a definite EC number (2.7.1.-)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2500/00—Screening for compounds of potential therapeutic value
    • G01N2500/04—Screening involving studying the effect of compounds C directly on molecule A (e.g. C are potential ligands for a receptor A, or potential substrates for an enzyme A)

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  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
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  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Biophysics (AREA)
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  • General Physics & Mathematics (AREA)
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  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Physical Education & Sports Medicine (AREA)
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  • Gastroenterology & Hepatology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
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CA2647086A 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez Expired - Lifetime CA2647086C (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2754028A CA2754028A1 (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
FR0411480 2004-10-27
FR0411480A FR2877013A1 (fr) 2004-10-27 2004-10-27 Indentification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez
CA2585062A CA2585062C (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2585062A Division CA2585062C (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

Related Child Applications (1)

Application Number Title Priority Date Filing Date
CA2754028A Division CA2754028A1 (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

Publications (2)

Publication Number Publication Date
CA2647086A1 CA2647086A1 (fr) 2006-05-04
CA2647086C true CA2647086C (fr) 2012-09-18

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CA2647086A Expired - Lifetime CA2647086C (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez
CA2585062A Expired - Lifetime CA2585062C (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez
CA2754028A Abandoned CA2754028A1 (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

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CA2585062A Expired - Lifetime CA2585062C (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez
CA2754028A Abandoned CA2754028A1 (fr) 2004-10-27 2005-10-26 Identification d'une mutation de jak2 impliquee dans la polyglobulie de vaquez

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US (9) US7781199B2 (enExample)
EP (2) EP1895000A1 (enExample)
JP (3) JP5090171B2 (enExample)
KR (1) KR101203003B1 (enExample)
CN (1) CN101072870B (enExample)
AT (1) ATE382082T1 (enExample)
AU (1) AU2005298636B2 (enExample)
BR (1) BRPI0517398B8 (enExample)
CA (3) CA2647086C (enExample)
DE (1) DE602005004008T2 (enExample)
DK (1) DK1692281T3 (enExample)
ES (1) ES2296229T3 (enExample)
FR (1) FR2877013A1 (enExample)
IL (1) IL182761A0 (enExample)
MX (1) MX2007005174A (enExample)
PL (1) PL1692281T3 (enExample)
PT (1) PT1692281E (enExample)
SI (1) SI1692281T1 (enExample)
WO (1) WO2006045827A1 (enExample)
ZA (1) ZA200703433B (enExample)

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PT1692281E (pt) 2008-02-06
US7429456B2 (en) 2008-09-30
US8637235B2 (en) 2014-01-28
DE602005004008T2 (de) 2009-02-12
JP2009278982A (ja) 2009-12-03
BRPI0517398B1 (pt) 2021-03-02
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