JP2004504038A5 - - Google Patents
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- JP2004504038A5 JP2004504038A5 JP2002512419A JP2002512419A JP2004504038A5 JP 2004504038 A5 JP2004504038 A5 JP 2004504038A5 JP 2002512419 A JP2002512419 A JP 2002512419A JP 2002512419 A JP2002512419 A JP 2002512419A JP 2004504038 A5 JP2004504038 A5 JP 2004504038A5
- Authority
- JP
- Japan
- Prior art keywords
- seq
- nucleotide
- nos
- nucleotides
- pkd1
- 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.)
- Pending
Links
- 239000002773 nucleotide Substances 0.000 description 336
- 125000003729 nucleotide group Chemical group 0.000 description 336
- 238000000034 method Methods 0.000 description 57
- 101001074444 Homo sapiens Polycystin-1 Proteins 0.000 description 55
- 102100036143 Polycystin-1 Human genes 0.000 description 55
- 230000003321 amplification Effects 0.000 description 47
- 238000003199 nucleic acid amplification method Methods 0.000 description 47
- 108091033319 polynucleotide Proteins 0.000 description 31
- 239000002157 polynucleotide Substances 0.000 description 31
- 102000040430 polynucleotide Human genes 0.000 description 31
- 230000035772 mutation Effects 0.000 description 28
- 101100029888 Homo sapiens PKD1 gene Proteins 0.000 description 22
- 101150056230 PKD1 gene Proteins 0.000 description 22
- 238000007857 nested PCR Methods 0.000 description 15
- 239000000523 sample Substances 0.000 description 15
- 239000011159 matrix material Substances 0.000 description 12
- 239000013068 control sample Substances 0.000 description 10
- 239000007787 solid Substances 0.000 description 10
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 7
- 239000013610 patient sample Substances 0.000 description 7
- 238000009396 hybridization Methods 0.000 description 5
- 239000012634 fragment Substances 0.000 description 4
- 102000039446 nucleic acids Human genes 0.000 description 4
- 108020004707 nucleic acids Proteins 0.000 description 4
- 150000007523 nucleic acids Chemical class 0.000 description 4
- 108091028043 Nucleic acid sequence Proteins 0.000 description 3
- 238000003556 assay Methods 0.000 description 3
- 238000002844 melting Methods 0.000 description 3
- 230000008018 melting Effects 0.000 description 3
- 108700028369 Alleles Proteins 0.000 description 2
- 108020004635 Complementary DNA Proteins 0.000 description 2
- 108091034117 Oligonucleotide Proteins 0.000 description 2
- 238000012790 confirmation Methods 0.000 description 2
- 238000011109 contamination Methods 0.000 description 2
- 238000007865 diluting Methods 0.000 description 2
- 239000000203 mixture Substances 0.000 description 2
- 238000003752 polymerase chain reaction Methods 0.000 description 2
- 229920001184 polypeptide Polymers 0.000 description 2
- 108090000765 processed proteins & peptides Proteins 0.000 description 2
- 102000004196 processed proteins & peptides Human genes 0.000 description 2
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 1
- 208000010061 Autosomal Dominant Polycystic Kidney Diseases 0.000 description 1
- 108020004705 Codon Proteins 0.000 description 1
- 108020004414 DNA Proteins 0.000 description 1
- 108700024394 Exon Proteins 0.000 description 1
- 102000006382 Ribonucleases Human genes 0.000 description 1
- 108010083644 Ribonucleases Proteins 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 150000001413 amino acids Chemical class 0.000 description 1
- 238000004458 analytical method Methods 0.000 description 1
- 208000022185 autosomal dominant polycystic kidney disease Diseases 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 230000000295 complement effect Effects 0.000 description 1
- 238000003935 denaturing gradient gel electrophoresis Methods 0.000 description 1
- 238000003795 desorption Methods 0.000 description 1
- 238000001514 detection method Methods 0.000 description 1
- 239000005546 dideoxynucleotide Substances 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 230000001747 exhibiting effect Effects 0.000 description 1
- 238000001502 gel electrophoresis Methods 0.000 description 1
- 238000004128 high performance liquid chromatography Methods 0.000 description 1
- 238000002360 preparation method Methods 0.000 description 1
- 238000001269 time-of-flight mass spectrometry Methods 0.000 description 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US21826100P | 2000-07-13 | 2000-07-13 | |
| US28369101P | 2001-04-13 | 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 |
|---|---|---|---|
| JP2011224456A Division JP5536005B2 (ja) | 2000-07-13 | 2011-10-12 | 多発性嚢胞腎疾患の検出と治療 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2004504038A JP2004504038A (ja) | 2004-02-12 |
| JP2004504038A5 true JP2004504038A5 (enExample) | 2007-01-18 |
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 After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| 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 |
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) |
Families Citing this family (41)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
Family Cites Families (16)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| US5837832A (en) * | 1993-06-25 | 1998-11-17 | Affymetrix, Inc. | Arrays of nucleic acid probes on biological chips |
| 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 |
| EP0966719A1 (en) * | 1997-03-13 | 1999-12-29 | Opinion Corporation First | Disease management system |
| US6297010B1 (en) * | 1998-01-30 | 2001-10-02 | Genzyme Corporation | Method for detecting and identifying mutations |
| US6362326B1 (en) * | 1998-12-22 | 2002-03-26 | Smithkline Beecham Corporation | 11 cby genomic sequence |
| IT1304060B1 (it) * | 1998-12-29 | 2001-03-07 | St Microelectronics Srl | Variatore di livello per circuiteria a tensione d'alimentazionemultipla |
| AU2001271998A1 (en) * | 2000-07-13 | 2002-01-30 | The Johns Hopkins University School Of Medicine | Detection and treatment of polycystic kidney disease |
-
2001
- 2001-07-13 AU AU2001271998A patent/AU2001271998A1/en not_active Abandoned
- 2001-07-13 JP JP2002512419A patent/JP2004504038A/ja active Pending
- 2001-07-13 US US09/904,968 patent/US7553644B2/en not_active Expired - Fee Related
- 2001-07-13 CA CA2395781A patent/CA2395781C/en not_active Expired - Lifetime
- 2001-07-13 WO PCT/US2001/022035 patent/WO2002006529A2/en not_active Ceased
- 2001-07-13 CA CA2697031A patent/CA2697031C/en not_active Expired - Lifetime
-
2006
- 2006-07-11 US US11/485,062 patent/US8530161B2/en not_active Expired - Fee Related
-
2011
- 2011-10-12 JP JP2011224456A patent/JP5536005B2/ja not_active Expired - Fee Related
-
2013
- 2013-08-12 US US13/965,083 patent/US9670543B2/en not_active Expired - Fee Related
-
2017
- 2017-05-22 US US15/601,804 patent/US20170321278A1/en not_active Abandoned
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