JP2012070736A5 - - Google Patents

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Publication number
JP2012070736A5
JP2012070736A5 JP2011224456A JP2011224456A JP2012070736A5 JP 2012070736 A5 JP2012070736 A5 JP 2012070736A5 JP 2011224456 A JP2011224456 A JP 2011224456A JP 2011224456 A JP2011224456 A JP 2011224456A JP 2012070736 A5 JP2012070736 A5 JP 2012070736A5
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JP
Japan
Prior art keywords
sequence
pkd1 gene
region
primer
region comprises
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.)
Granted
Application number
JP2011224456A
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English (en)
Japanese (ja)
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JP2012070736A (ja
JP5536005B2 (ja
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Publication of JP2012070736A publication Critical patent/JP2012070736A/ja
Publication of JP2012070736A5 publication Critical patent/JP2012070736A5/ja
Application granted granted Critical
Publication of JP5536005B2 publication Critical patent/JP5536005B2/ja
Anticipated expiration legal-status Critical
Expired - Fee Related legal-status Critical Current

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JP2011224456A 2000-07-13 2011-10-12 多発性嚢胞腎疾患の検出と治療 Expired - Fee Related JP5536005B2 (ja)

Applications Claiming Priority (4)

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

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
JP2002512419A Division JP2004504038A (ja) 2000-07-13 2001-07-13 多発性嚢胞腎疾患の検出と治療

Publications (3)

Publication Number Publication Date
JP2012070736A JP2012070736A (ja) 2012-04-12
JP2012070736A5 true JP2012070736A5 (enExample) 2012-12-27
JP5536005B2 JP5536005B2 (ja) 2014-07-02

Family

ID=26912733

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2002512419A Pending JP2004504038A (ja) 2000-07-13 2001-07-13 多発性嚢胞腎疾患の検出と治療
JP2011224456A Expired - Fee Related JP5536005B2 (ja) 2000-07-13 2011-10-12 多発性嚢胞腎疾患の検出と治療

Family Applications Before (1)

Application Number Title Priority Date Filing Date
JP2002512419A Pending JP2004504038A (ja) 2000-07-13 2001-07-13 多発性嚢胞腎疾患の検出と治療

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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US6916619B2 (en) 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
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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
KR20100016073A (ko) * 2007-04-02 2010-02-12 인스티튜트 포 원월드 헬스 Ｃｆｔｒ 억제제 화합물 및 이의 용도
EP2278879B1 (en) 2008-04-21 2016-06-15 PATH Drug Solutions Compounds, compositions and methods comprising oxadiazole derivatives
US20090270398A1 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, Compositions and Methods Comprising Pyridazine Derivatives
WO2009131958A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising triazine derivatives
WO2009131951A2 (en) * 2008-04-21 2009-10-29 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
WO2012060109A1 (en) 2010-11-05 2012-05-10 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
US20180032673A1 (en) * 2014-09-03 2018-02-01 Otsuka Pharmaceutical Co., Ltd. Pathology determination assistance device, method and storage medium
CA2963288A1 (en) 2014-10-03 2016-04-07 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
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
EP3267986B1 (en) * 2015-03-13 2022-09-14 Indiana University Research & Technology Corporation Pde5 inhibitors for use in reducing renal cyst size and/or preventing renal cyst growth
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
AU2016334804B2 (en) 2015-10-09 2022-03-31 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
WO2017106377A1 (en) 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
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
LT3673080T (lt) 2017-08-25 2023-12-27 Stoke Therapeutics, Inc. Priešprasminiai oligomerai, skirti būklėms ir ligoms gydyti
DE102018103215B3 (de) 2018-02-13 2019-08-14 Gna Biosolutions Gmbh Verfahren und Vorrichtung zur Extraktion einer Nukleinsäure aus einer Probenflüssigkeit
BR112020022512A2 (pt) 2018-05-04 2021-05-04 Stoke Therapeutics, Inc. métodos e composições para tratamento de doença de armazenamento de éster de colesteril
EP4150092A4 (en) 2020-05-11 2024-11-06 Stoke Therapeutics, Inc. OPA1 ANTISENSE OLIGOMERS FOR THE TREATMENT OF DISEASES AND CONDITIONS
EP4277994A4 (en) * 2021-01-14 2025-07-09 Mayo Found Medical Education & Res TREATMENT OF DISEASES AND ENHANCEMENT OF 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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US6031088A (en) 1996-05-23 2000-02-29 Albert Einstein College Of Medicine Of Yeshiva University Polycystic kidney disease PKD2 gene and uses thereof
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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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