CA2395781C - Detection and treatment of polycystic kidney disease - Google Patents

Detection and treatment of polycystic kidney disease Download PDF

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Publication number
CA2395781C
CA2395781C CA2395781A CA2395781A CA2395781C CA 2395781 C CA2395781 C CA 2395781C CA 2395781 A CA2395781 A CA 2395781A CA 2395781 A CA2395781 A CA 2395781A CA 2395781 C CA2395781 C CA 2395781C
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CA
Canada
Prior art keywords
seq
nos
nucleotide
pkd1
primer
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
CA2395781A
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English (en)
French (fr)
Other versions
CA2395781A1 (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 date
Application filed by Johns Hopkins University filed Critical Johns Hopkins University
Priority to CA2697031A priority Critical patent/CA2697031C/en
Publication of CA2395781A1 publication Critical patent/CA2395781A1/en
Application granted granted Critical
Publication of CA2395781C publication Critical patent/CA2395781C/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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Urology & Nephrology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • General Chemical & Material Sciences (AREA)
  • Veterinary Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Public Health (AREA)
  • Medicinal Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2395781A 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease Expired - Lifetime CA2395781C (en)

Priority Applications (1)

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

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
PCT/US2001/022035 WO2002006529A2 (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Related Child Applications (1)

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

Publications (2)

Publication Number Publication Date
CA2395781A1 CA2395781A1 (en) 2002-01-24
CA2395781C true CA2395781C (en) 2010-04-13

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 Before (1)

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

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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CA2697031C (en) * 2000-07-13 2017-10-31 The Johns Hopkins University School Of Medicine Detection and treatment of polycystic kidney disease
US6916619B2 (en) 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
US7273701B2 (en) 2001-10-12 2007-09-25 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
CA2658421C (en) 2006-07-24 2018-03-20 Athena Diagnostics, Inc. Pkd mutations and evaluation of same
JP2010523579A (ja) * 2007-04-02 2010-07-15 インスティテュート フォア ワンワールド ヘルス Cftr阻害剤化合物およびそれらの使用
US20090270398A1 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, Compositions and Methods Comprising Pyridazine Derivatives
WO2009131957A2 (en) 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising oxadiazole derivatives
WO2009131958A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising triazine derivatives
US8236838B2 (en) * 2008-04-21 2012-08-07 Institute For Oneworld Health Compounds, compositions and methods comprising isoxazole derivatives
EP2341776A4 (en) * 2008-09-19 2012-05-30 Inst Oneworld Health COMPOUNDS, COMPOSITIONS AND METHODS COMPRISING IMIDAZOL AND TRIAZOL 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
US20180032673A1 (en) * 2014-09-03 2018-02-01 Otsuka Pharmaceutical Co., Ltd. Pathology determination assistance device, method and storage medium
KR102620328B1 (ko) 2014-10-03 2024-01-02 콜드스프링하버러보러토리 핵 유전자 산출량의 표적화 증강
ES2814284T3 (es) 2014-11-19 2021-03-26 Otsuka Pharma Co Ltd Conjunto de cebadores y método para amplificar exones del gen PDK1 y del gen PDK2
CN107847462B (zh) * 2015-03-13 2021-08-10 美国印第安纳大学研究和技术公司 靶向cGMP相关的磷酸二酯酶以减少囊性肾病的囊肿形成和相关的材料与方法
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
KR20220105174A (ko) 2015-10-09 2022-07-26 유니버시티 오브 사우스앰톤 유전자 발현의 조절 및 탈조절된 단백질 발현의 스크리닝
CN109312343B (zh) 2015-12-14 2022-09-27 冷泉港实验室 用于治疗常染色体显性精神发育迟滞5型和Dravet综合征的反义寡聚体
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
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
US12060558B2 (en) 2018-05-04 2024-08-13 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
CA3173647A1 (en) 2020-05-11 2021-11-18 Isabel AZNAREZ Opa1 antisense oligomers for treatment of conditions and diseases
US20240325570A1 (en) * 2021-01-14 2024-10-03 Mayo Foundation For Medical Education And Research Treating diseases and improving nucleic acid delivery
AU2023275606A1 (en) * 2022-05-25 2024-11-28 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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US6867288B1 (en) * 1994-10-12 2005-03-15 Genzyme Corporation Polycystic kidney disease gene
US5654170A (en) * 1994-10-12 1997-08-05 Johns Hopkins University Polycystic kidney disease gene
US6071717A (en) * 1995-01-31 2000-06-06 Genzyme Corporation Polycystic kidney disease gene and protein
US6448389B1 (en) * 1996-04-23 2002-09-10 The Wistar Institute Of Anatomy And Biology Human cytomegalovirus DNA constructs and uses therefor
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Also Published As

Publication number Publication date
AU2001271998A1 (en) 2002-01-30
WO2002006529A2 (en) 2002-01-24
US20030008288A1 (en) 2003-01-09
JP2012070736A (ja) 2012-04-12
US20140037652A1 (en) 2014-02-06
WO2002006529A3 (en) 2003-06-26
US7553644B2 (en) 2009-06-30
US20170321278A1 (en) 2017-11-09
CA2697031A1 (en) 2002-01-24
US8530161B2 (en) 2013-09-10
US9670543B2 (en) 2017-06-06
CA2697031C (en) 2017-10-31
JP5536005B2 (ja) 2014-07-02
US20060246504A1 (en) 2006-11-02
CA2395781A1 (en) 2002-01-24
JP2004504038A (ja) 2004-02-12

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Effective date: 20210713