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1. EP1960539 - IDENTIFICATION OF LOSS-OF-FUNCTION MUTATIONS IN FILAGGRIN CAUSING ICHTHYOSIS VULGARIS AND PREDISPOSING TO OTHER DISEASES

Office
European Patent Office
Application Number 06820543
Application Date 15.12.2006
Publication Number 1960539
Publication Date 27.08.2008
Publication Kind B1
IPC
C12Q 1/68
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
CPC
A61P 11/06
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
11Drugs for disorders of the respiratory system
06Antiasthmatics
A61P 17/00
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
17Drugs for dermatological disorders
A61P 17/04
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
17Drugs for dermatological disorders
04Antipruritics
A61P 17/06
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
17Drugs for dermatological disorders
06Antipsoriatics
A61P 37/08
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
37Drugs for immunological or allergic disorders
08Antiallergic agents
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
Applicants UNIV DUNDEE
Inventors MCLEAN WILLIAM HENRY IRWIN
SMITH FRANCES JANE DOROTHY
Designated States
Priority Data 0525492 15.12.2005 GB
Title
(DE) IDENTIFIZIERUNG VON ZU ICHTHYOSIS VULGARIS UND EINER VERANLAGUNG FÜR ANDERE KRANKHEITEN FÜHRENDEN FUNKTIONSVERLUSTMUTATIONEN IN FILAGGRIN
(EN) IDENTIFICATION OF LOSS-OF-FUNCTION MUTATIONS IN FILAGGRIN CAUSING ICHTHYOSIS VULGARIS AND PREDISPOSING TO OTHER DISEASES
(FR) IDENTIFICATION DE MUTATIONS PERTE-DE-FONCTION DANS LA FILAGGRINE QUI ENTRAINENT ICHTHYOSIS VULGARIS ET PRÉDISPOSENT À D'AUTRES MALADIES
Abstract
(EN) The present invention relates to the identification of loss-of-function mutations in the filaggrin gene and their use in diagnosing ichthyosis vulgaris and/or susceptibility to other diseases including atopic dermatitis (eczema), asthma, psoriasis and allergies (including food allergy).
(FR) La présente invention concerne l'identification de mutations avec perte de fonction du gène de la filaggrine et leur utilisation dans le diagnostic d'ichthyose commune et/ou de réceptivité à d'autres maladies y compris la dermite atopique (eczéma), l'asthme, le psoriasis et les allergies (y compris l'allergie alimentaire).