ES2296229 IDENTIFICACION DE UNA MUTACION DE JAK2 IMPLICADA EN LA POLIGLOBULIA DE VAQUEZ.

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Spain

Application Number E05815749

Application Date 26.10.2005

Publication Number 2296229

Publication Date 16.04.2008

Publication Kind T3

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Applicants ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
INSTITUT GUSTAVE ROUSSY
UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES
UNIVERSITE PARIS SUD

Inventors VAINCHENKER, WILLIAM
UGO, VALERIE
JAMES, CHLOE
LE COUEDIC, JEAN-PIERRE
CASADEVALL, NICOLE

Priority Data 0411480 27.10.2004 FR

Title

(ES) IDENTIFICACION DE UNA MUTACION DE JAK2 IMPLICADA EN LA POLIGLOBULIA DE VAQUEZ.

Abstract

(ES) Proteína aislada JAK2 (Janus quinasa 2), caracterizada porque comprende una mutación en el aminoácido 617, más particularmente la mutación V617F, denominada a continuación "variante JAK2 V617F", cuya secuencia se representa en la SEC ID nº 1, o unos equivalentes de esta proteína mutada en posición 617 en otros mamíferos.

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33	Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48	Biological material, e.g. blood, urine; Haemocytometers
50	Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53	Immunoassay; Biospecific binding assay; Materials therefor

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	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
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33	Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48	Biological material, e.g. blood, urine; Haemocytometers
50	Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53	Immunoassay; Biospecific binding assay; Materials therefor

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)

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1. ES2296229 - IDENTIFICACION DE UNA MUTACION DE JAK2 IMPLICADA EN LA POLIGLOBULIA DE VAQUEZ.

A	HUMAN NECESSITIES
61	MEDICAL OR VETERINARY SCIENCE; HYGIENE
P	SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
19	Drugs for skeletal disorders
08	for bone diseases, e.g. rachitism, Paget's disease

C	CHEMISTRY; METALLURGY
07	ORGANIC CHEMISTRY
K	PEPTIDES
14	Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2500	Screening for compounds of potential therapeutic value
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)

G	PHYSICS
01	MEASURING; TESTING
N	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
2500	Screening for compounds of potential therapeutic value
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)

C	CHEMISTRY; METALLURGY
12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15	Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09	Recombinant DNA-technology
11	DNA or RNA fragments; Modified forms thereof
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