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
Other languages
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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Filing date
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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    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P13/00—Drugs for disorders of the urinary system
    • 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)
  • 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)
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
CA2395781A Expired - Lifetime CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease
CA2697031A Expired - Lifetime CA2697031C (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
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) CA2395781C (enExample)
WO (1) WO2002006529A2 (enExample)

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AU2001271998A1 (en) * 2000-07-13 2002-01-30 The Johns Hopkins University School Of Medicine Detection and treatment 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
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
CA2993381C (en) 2006-07-24 2020-07-14 Athena Diagnostics, Inc. Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
EP2142498A2 (en) * 2007-04-02 2010-01-13 Institute for Oneworld Health Cftr inhibitor compounds and uses thereof
US20090270398A1 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, Compositions and Methods Comprising Pyridazine Derivatives
EP2278879B1 (en) 2008-04-21 2016-06-15 PATH Drug Solutions Compounds, compositions and methods comprising oxadiazole derivatives
US8236838B2 (en) * 2008-04-21 2012-08-07 Institute For Oneworld Health Compounds, compositions and methods comprising isoxazole derivatives
WO2009131958A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising triazine derivatives
JP2012503005A (ja) * 2008-09-19 2012-02-02 インスティテュート フォア ワンワールド ヘルス イミダゾール誘導体およびトリアゾール誘導体を含む、化合物、組成物ならびに方法。
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
US20130225443A1 (en) 2010-11-05 2013-08-29 Kyoto University Method of examining polycystic kidney disease and method of screening for therapeutic agent of the disease
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
ES2898435T3 (es) * 2014-09-03 2022-03-07 Otsuka Pharma Co Ltd Dispositivo de ayuda para la determinación de patología, método, programa y medio de almacenamiento
CN107109411B (zh) 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
US10538812B2 (en) 2014-11-19 2020-01-21 Otsuka Pharmaceutical Co., Ltd. Primer set and method for amplifying exons of PKD1 gene and PKD2 gene
US10456404B2 (en) 2015-03-13 2019-10-29 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
CN108603230A (zh) 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
CN116059236A (zh) 2015-12-14 2023-05-05 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
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
KR20260009385A (ko) 2017-08-25 2026-01-19 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
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
KR20210134003A (ko) 2019-02-27 2021-11-08 스톡 테라퓨틱스, 인크. 병태 및 질환의 치료를 위한 안티센스 올리고머
US12338437B2 (en) 2020-05-11 2025-06-24 Stoke Therapeutics, Inc. 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
CN119546758A (zh) * 2022-05-25 2025-02-28 耶鲁大学 治疗、改善和/或预防多囊肾病和多囊肝病的方法
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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US5474796A (en) * 1991-09-04 1995-12-12 Protogene Laboratories, Inc. Method and apparatus for conducting an array of chemical reactions on a support surface
ATE267877T1 (de) * 1993-01-07 2004-06-15 Sequenom Inc Dns - sequenzierung durch massenspektronomie
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US5472672A (en) * 1993-10-22 1995-12-05 The Board Of Trustees Of The Leland Stanford Junior University Apparatus and method for polymer synthesis using arrays
EP0733110A1 (en) 1993-12-24 1996-09-25 University of Wales College of Medicine Tuberous sclerosis 2 gene and uses thereof
US5654170A (en) * 1994-10-12 1997-08-05 Johns Hopkins University Polycystic kidney disease gene
US6867288B1 (en) * 1994-10-12 2005-03-15 Genzyme Corporation 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
US6031088A (en) 1996-05-23 2000-02-29 Albert Einstein College Of Medicine Of Yeshiva University Polycystic kidney disease PKD2 gene and uses thereof
EP0918855A1 (en) * 1996-05-24 1999-06-02 Genzyme Corporation Polycystic kidney disease gene
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AU2001271998A1 (en) * 2000-07-13 2002-01-30 The Johns Hopkins University School Of Medicine Detection and treatment of polycystic kidney disease

Also Published As

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

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Effective date: 20210713