ITMI20051047A1 - Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico - Google Patents

Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico

Info

Publication number
ITMI20051047A1
ITMI20051047A1 IT001047A ITMI20051047A ITMI20051047A1 IT MI20051047 A1 ITMI20051047 A1 IT MI20051047A1 IT 001047 A IT001047 A IT 001047A IT MI20051047 A ITMI20051047 A IT MI20051047A IT MI20051047 A1 ITMI20051047 A1 IT MI20051047A1
Authority
IT
Italy
Prior art keywords
termed
identification
syndrome
long
kcnh2
Prior art date
Application number
IT001047A
Other languages
English (en)
Inventor
Silvia Giuliana Priori
Original Assignee
Irccs Fond Salvatore Maugeri C
Univ Pavia
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 Irccs Fond Salvatore Maugeri C, Univ Pavia filed Critical Irccs Fond Salvatore Maugeri C
Priority to IT001047A priority Critical patent/ITMI20051047A1/it
Priority to DE602006018003T priority patent/DE602006018003D1/de
Priority to EP06763551A priority patent/EP1891235B1/en
Priority to US11/916,791 priority patent/US20090220949A1/en
Priority to PCT/EP2006/062956 priority patent/WO2006131528A2/en
Priority to AT06763551T priority patent/ATE486963T1/de
Publication of ITMI20051047A1 publication Critical patent/ITMI20051047A1/it

Links

Classifications

    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Hydrogenated Pyridines (AREA)
IT001047A 2005-06-07 2005-06-07 Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico ITMI20051047A1 (it)

Priority Applications (6)

Application Number Priority Date Filing Date Title
IT001047A ITMI20051047A1 (it) 2005-06-07 2005-06-07 Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico
DE602006018003T DE602006018003D1 (de) 2005-06-07 2006-06-07 Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon
EP06763551A EP1891235B1 (en) 2005-06-07 2006-06-07 Mutations associated with the long qt syndrome and diagnostic use thereof
US11/916,791 US20090220949A1 (en) 2005-06-07 2006-06-07 Mutations Associated with the Long QT Syndrome and Diagnostic Use Thereof
PCT/EP2006/062956 WO2006131528A2 (en) 2005-06-07 2006-06-07 Mutations associated with the long qt syndrome and diagnostic use thereof
AT06763551T ATE486963T1 (de) 2005-06-07 2006-06-07 Mit dem long-qt-syndrom assoziierte mutationen und diagnostische verwendung davon

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
IT001047A ITMI20051047A1 (it) 2005-06-07 2005-06-07 Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico

Publications (1)

Publication Number Publication Date
ITMI20051047A1 true ITMI20051047A1 (it) 2006-12-08

Family

ID=37074183

Family Applications (1)

Application Number Title Priority Date Filing Date
IT001047A ITMI20051047A1 (it) 2005-06-07 2005-06-07 Mutazioni associate alla sindrome del qt lungo e loro uso diagnostico

Country Status (6)

Country Link
US (1) US20090220949A1 (it)
EP (1) EP1891235B1 (it)
AT (1) ATE486963T1 (it)
DE (1) DE602006018003D1 (it)
IT (1) ITMI20051047A1 (it)
WO (1) WO2006131528A2 (it)

Families Citing this family (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8027791B2 (en) 2004-06-23 2011-09-27 Medtronic, Inc. Self-improving classification system
US8335652B2 (en) 2004-06-23 2012-12-18 Yougene Corp. Self-improving identification method
EP2417266B1 (en) 2009-04-06 2016-03-09 Vanda Pharmaceuticals Inc. Method of predicting a predisposition to qt prolongation
US9074256B2 (en) 2009-04-06 2015-07-07 Vanda Pharmaceuticals, Inc. Method of predicting a predisposition to QT prolongation
WO2010117931A1 (en) 2009-04-06 2010-10-14 Vanda Pharmaceuticals, Inc. Method of treatment based on polymorphisms of the kcnq1 gene
JP5692872B2 (ja) 2009-04-06 2015-04-01 ヴァンダ ファーマシューティカルズ インコーポレイテッド Ｂａｉ遺伝子の配列又はその産物に基づいてｑｔ延長に対する素因を予測する方法
WO2011035239A1 (en) * 2009-09-18 2011-03-24 Cornell University Kcnq1 and kcne2 in thyroid disease
JP6116485B2 (ja) * 2011-01-06 2017-04-19 ザ ボード オブ トラスティーズ オブ ザ ユニバーシティ オブ イリノイ 心臓性突然死に関連する方法において使用するためのｓｃｎ５ａスプライスバリアント
WO2012149406A2 (en) * 2011-04-29 2012-11-01 Mayo Foundation For Medical Education And Research Assessing and treating humans with long qt syndrome
CN104561310B (zh) * 2015-01-04 2019-02-05 西安百思达生物科技有限公司 心源性猝死突变基因检测试剂盒
WO2016118118A1 (en) * 2015-01-20 2016-07-28 Oregon Health & Science University Modulation of kcnh2 isoform expression by oligonucleotides as a therapeutic approach for long qt syndrome
CN110577989B (zh) * 2019-09-04 2020-11-10 珠海赛乐奇生物技术股份有限公司 用于检测运动性猝死相关基因的探针、基因芯片及试剂盒
KR20230126210A (ko) * 2020-12-30 2023-08-29 메이오 파운데이션 포 메디칼 에쥬케이션 앤드 리써치 억제-대체 유전자 요법
CN115725721A (zh) * 2022-10-25 2023-03-03 百世诺（北京）医疗科技有限公司 用于检测长qt综合征致病基因kcnq1和kcnh2的试剂及其应用
CN117487907B (zh) * 2023-12-29 2024-04-23 湖南家辉生物技术有限公司 Kcnh2基因突变体、突变体蛋白、试剂、试剂盒及应用

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5599673A (en) * 1995-03-09 1997-02-04 University Of Utah Research Foundation Long QT syndrome genes
WO2001024681A2 (en) * 1999-08-09 2001-04-12 University Of Utah Research Foundation Alterations in the long qt syndrome genes kvlqt1 and scn5a and methods for detecting same
EP1579003A2 (en) * 2002-12-21 2005-09-28 Pfizer Products Inc. Methods and compositions relating to drug-induced arrhythmia
US7537928B2 (en) * 2003-08-22 2009-05-26 Masonic Medical Research Laboratory Mutations in ion channel proteins associated with sudden cardiac death
US20050142591A1 (en) * 2003-10-29 2005-06-30 Ackerman Michael J. Method of genetic testing in heritable arrhythmia syndrome patients

Also Published As

Publication number Publication date
WO2006131528A3 (en) 2007-03-29
DE602006018003D1 (de) 2010-12-16
WO2006131528A2 (en) 2006-12-14
US20090220949A1 (en) 2009-09-03
EP1891235B1 (en) 2010-11-03
EP1891235A2 (en) 2008-02-27
ATE486963T1 (de) 2010-11-15

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