CA2697031C - Detection and treatment of polycystic kidney disease - Google Patents

Detection and treatment of polycystic kidney disease Download PDF

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Publication number
CA2697031C
CA2697031C CA2697031A CA2697031A CA2697031C CA 2697031 C CA2697031 C CA 2697031C CA 2697031 A CA2697031 A CA 2697031A CA 2697031 A CA2697031 A CA 2697031A CA 2697031 C CA2697031 C CA 2697031C
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CA
Canada
Prior art keywords
pkd1
seq
nucleotide
nos
polynucleotide
Prior art date
Legal status (The legal status 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 status listed.)
Expired - Lifetime
Application number
CA2697031A
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English (en)
French (fr)
Other versions
CA2697031A1 (en
Inventor
Gregory G. Germino
Terry J. Watnick
Bunyong Phakdeekitcharoen
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Johns Hopkins University
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Johns Hopkins University
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Publication of CA2697031A1 publication Critical patent/CA2697031A1/en
Application granted granted Critical
Publication of CA2697031C publication Critical patent/CA2697031C/en
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P13/00Drugs for disorders of the urinary system
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Public Health (AREA)
  • Urology & Nephrology (AREA)
  • Medicinal Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Veterinary Medicine (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2697031A 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease Expired - Lifetime CA2697031C (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US21826100P 2000-07-13 2000-07-13
US60/218,261 2000-07-13
US28369101P 2001-04-13 2001-04-13
US60/283,691 2001-04-13
CA2395781A CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2395781A Division CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Publications (2)

Publication Number Publication Date
CA2697031A1 CA2697031A1 (en) 2002-01-24
CA2697031C true CA2697031C (en) 2017-10-31

Family

ID=26912733

Family Applications (2)

Application Number Title Priority Date Filing Date
CA2697031A Expired - Lifetime CA2697031C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease
CA2395781A Expired - Lifetime CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Family Applications After (1)

Application Number Title Priority Date Filing Date
CA2395781A Expired - Lifetime CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Country Status (5)

Country Link
US (4) US7553644B2 (enExample)
JP (2) JP2004504038A (enExample)
AU (1) AU2001271998A1 (enExample)
CA (2) CA2697031C (enExample)
WO (1) WO2002006529A2 (enExample)

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WO2002006529A2 (en) * 2000-07-13 2002-01-24 The Johns Hopkins University School Of Medicine Detection and treatment of polycystic kidney disease
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US6916619B2 (en) 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
GB0215509D0 (en) * 2002-07-04 2002-08-14 Novartis Ag Marker genes
US20050090001A1 (en) * 2003-10-07 2005-04-28 Parker Stephen H. Cell lines and methods for producing proteins
US7141376B2 (en) * 2004-05-28 2006-11-28 Lyons Leslie A Carrier tests for polycystic kidney disease in the cat
GB0523659D0 (en) * 2005-11-21 2005-12-28 Novartis Ag Organic compounds
US8771946B2 (en) 2006-07-24 2014-07-08 Athena Diagnostics, Inc. PKD mutations and evaluation of same
BRPI0809498A2 (pt) * 2007-04-02 2014-09-23 Inst Oneworld Health Compostos inibidores de cftr e seus usos
US20090264433A1 (en) * 2008-04-21 2009-10-22 Institute For Oneworld Health Compounds, Compositions and Methods Comprising Triazine Derivatives
WO2009131947A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising pyridazine derivatives
WO2009131951A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising isoxazole derivatives
WO2009131957A2 (en) 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising oxadiazole derivatives
US20110237528A1 (en) * 2008-09-19 2011-09-29 Institute For Oneworld Health Compositions and methods comprising imidazole and triazole derivatives
US8511216B2 (en) * 2009-03-30 2013-08-20 Kanzaki Kokyukoki Mfg. Co., Ltd. Hydraulic actuator unit
US8343976B2 (en) * 2009-04-20 2013-01-01 Institute For Oneworld Health Compounds, compositions and methods comprising pyrazole derivatives
JP6021021B2 (ja) 2010-11-05 2016-11-02 国立大学法人京都大学 多発性嚢胞腎の検査方法および治療剤のスクリーニング方法
JP5717128B2 (ja) * 2010-11-24 2015-05-13 国立大学法人東北大学 染色体優性多発性嚢胞腎の判定方法及び予防・治療薬のスクリーニング方法
WO2013019169A1 (en) 2011-08-01 2013-02-07 Institute For Oneworld Health Phosphate prodrugs
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
CA2974182A1 (en) * 2014-09-03 2016-03-10 Otsuka Pharmaceutical Co., Ltd. Pathology determination assistance device, method, program and storage medium
CN107109411B (zh) 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
JP6723924B2 (ja) * 2014-11-19 2020-07-15 大塚製薬株式会社 Pkd1遺伝子及びpkd2遺伝子のエクソンを増幅するためのプライマーセット及び方法
WO2016149218A1 (en) * 2015-03-13 2016-09-22 Indiana University Research And Technology Corporation TARGETING cGMP-RELATED PHOSPHODIESTERASES TO REDUCE CYST FORMATION IN CYSTIC KIDNEY DISEASE, AND RELATED MATERIALS AND METHODS
CN104975081B (zh) * 2015-06-01 2019-03-01 南京市妇幼保健院 检测pkd1基因突变的扩增引物、试剂盒及其检测方法
EP3359685A1 (en) 2015-10-09 2018-08-15 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
US11083745B2 (en) 2015-12-14 2021-08-10 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and Dravet Syndrome
CN106995851B (zh) * 2017-04-25 2020-07-03 郑州大学第一附属医院 扩增pkd1外显子超长片段的pcr引物、检测pkd1基因突变的试剂盒及应用
SMT202400071T1 (it) 2017-08-25 2024-03-13 Stoke Therapeutics Inc Oligomeri antisenso per il trattamento di condizioni e malattie
DE102018103215B3 (de) * 2018-02-13 2019-08-14 Gna Biosolutions Gmbh Verfahren und Vorrichtung zur Extraktion einer Nukleinsäure aus einer Probenflüssigkeit
JP2021523227A (ja) 2018-05-04 2021-09-02 ストーク セラピューティクス,インク. コレステリルエステル蓄積症の処置のための方法及び組成物
CA3173647A1 (en) 2020-05-11 2021-11-18 Isabel AZNAREZ Opa1 antisense oligomers for treatment of conditions and diseases
WO2022155435A1 (en) * 2021-01-14 2022-07-21 Mayo Foundation For Medical Education And Research Treating diseases and improving nucleic acid delivery
US20250339561A1 (en) * 2022-05-25 2025-11-06 Yale University Methods of treating, ameliorating and/or preventing polycystic kidney disease and polycystic liver disease
CN116179683B (zh) * 2022-12-29 2025-02-28 阅尔基因技术(苏州)有限公司 一种检测人类pkd1基因变异的探针和引物组合物及其应用
WO2024259175A2 (en) * 2023-06-13 2024-12-19 Nephrogen Inc. Systems, methods, and compositions for de-repressing pkd1
CN116732168B (zh) * 2023-08-04 2023-11-03 北京贝瑞和康生物技术有限公司 检测常染色体显性多囊肾多种突变的方法和试剂盒
CN117143997B (zh) * 2023-10-31 2024-02-23 北京中仪康卫医疗器械有限公司 一种用于pkd1基因突变检测的引物组、试剂盒及检测方法
CN118745460B (zh) * 2024-08-05 2025-07-11 英科新创(苏州)生物科技有限公司 猫pkd1基因突变位点的应用及试剂和诊断试剂盒

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AU2809897A (en) * 1996-04-23 1997-11-12 Wistar Institute Of Anatomy And Biology, The Novel human cytomegalovirus dna constructs and uses therefor
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EP0918855A1 (en) * 1996-05-24 1999-06-02 Genzyme Corporation Polycystic kidney disease gene
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Also Published As

Publication number Publication date
US7553644B2 (en) 2009-06-30
US20140037652A1 (en) 2014-02-06
US20060246504A1 (en) 2006-11-02
JP2004504038A (ja) 2004-02-12
WO2002006529A2 (en) 2002-01-24
JP2012070736A (ja) 2012-04-12
AU2001271998A1 (en) 2002-01-30
US8530161B2 (en) 2013-09-10
WO2002006529A3 (en) 2003-06-26
US20170321278A1 (en) 2017-11-09
CA2395781C (en) 2010-04-13
US20030008288A1 (en) 2003-01-09
CA2697031A1 (en) 2002-01-24
US9670543B2 (en) 2017-06-06
CA2395781A1 (en) 2002-01-24
JP5536005B2 (ja) 2014-07-02

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