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1. WO2012142159 - STRUCTURAL MUTATIONS IN TITIN CAUSE DILATED CARDIOMYOPATHY

Publication Number WO/2012/142159
Publication Date 18.10.2012
International Application No. PCT/US2012/033122
International Filing Date 11.04.2012
IPC
C12Q 1/68 2006.01
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
G01N 33/48 2006.01
GPHYSICS
01MEASURING; TESTING
NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48Biological material, e.g. blood, urine; Haemocytometers
A61K 38/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
38Medicinal preparations containing peptides
A61K 9/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
9Medicinal preparations characterised by special physical form
G06F 19/10 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
G06F 19/22 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
22for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or Single-Nucleotide Polymorphism discovery or sequence alignment
CPC
C12N 9/12
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9Enzymes; Proenzymes; Compositions thereof
10Transferases (2.)
12transferring phosphorus containing groups, e.g. kinases (2.7)
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
C12Q 2600/112
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
112Disease subtyping, staging or classification
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
Applicants
  • THE BRIGHAM AND WOMEN'S HOSPITAL, INC [US]/[US] (AllExceptUS)
  • PRESIDENT AND FELLOWS OF HARVARD COLLEGE [US]/[US] (AllExceptUS)
  • SEIDMAN, Jonathan G. [US]/[US] (UsOnly)
  • SEIDMAN, Christine E. [US]/[US] (UsOnly)
  • HERMAN, Daniel S. [US]/[US] (UsOnly)
Inventors
  • SEIDMAN, Jonathan G.
  • SEIDMAN, Christine E.
  • HERMAN, Daniel S.
Agents
  • RESNICK, David S.
Priority Data
61/474,10611.04.2011US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) STRUCTURAL MUTATIONS IN TITIN CAUSE DILATED CARDIOMYOPATHY
(FR) MUTATIONS STRUCTURALES DE LA TITINE PROVOQUANT UNE MYOCARDIOPATHIE DILATÉE
Abstract
(EN)
Provided herein are diagnostic markers and methods for identifying a subject having an increased susceptibility for developing or having dilated cardiomyopathy. The method comprises determining if the subject has a mutation in the TTN nucleic acid or titin polypeptide. Further provided herein are methods of treating subjects having or at risk of having dilated cardiomyopathy.
(FR)
La présente invention porte sur des marqueurs de diagnostic et des procédés pour identifier un sujet ayant une susceptibilité accrue de développer ou de souffrir d'une myocardiopathie dilatée. Le procédé consiste à déterminer si le sujet possède ou non une mutation dans l'acide nucléique TTN ou le polypeptide titine. La présente invention porte en outre sur des procédés de traitement de sujets ayant ou présentant un risque de souffrir d'une myocardiopathie dilatée.
Also published as
Latest bibliographic data on file with the International Bureau