JP2009544314A5 - - Google Patents
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- Publication number
- JP2009544314A5 JP2009544314A5 JP2009521815A JP2009521815A JP2009544314A5 JP 2009544314 A5 JP2009544314 A5 JP 2009544314A5 JP 2009521815 A JP2009521815 A JP 2009521815A JP 2009521815 A JP2009521815 A JP 2009521815A JP 2009544314 A5 JP2009544314 A5 JP 2009544314A5
- Authority
- JP
- Japan
- Prior art keywords
- seq
- nucleotide position
- nucleotide
- change
- deletion
- 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 claims 116
- 125000003729 nucleotide group Chemical group 0.000 claims 116
- 238000012217 deletion Methods 0.000 claims 23
- 230000037430 deletion Effects 0.000 claims 23
- 238000003780 insertion Methods 0.000 claims 18
- 230000037431 insertion Effects 0.000 claims 18
- 238000000034 method Methods 0.000 claims 15
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 14
- 208000010061 Autosomal Dominant Polycystic Kidney Diseases 0.000 claims 13
- 208000022185 autosomal dominant polycystic kidney disease Diseases 0.000 claims 13
- 230000004075 alteration Effects 0.000 claims 11
- 238000012986 modification Methods 0.000 claims 10
- 230000004048 modification Effects 0.000 claims 10
- 150000007523 nucleic acids Chemical class 0.000 claims 6
- 238000003752 polymerase chain reaction Methods 0.000 claims 6
- 101100029888 Homo sapiens PKD1 gene Proteins 0.000 claims 4
- 101150056230 PKD1 gene Proteins 0.000 claims 4
- 101150112863 pkd2 gene Proteins 0.000 claims 4
- 238000001514 detection method Methods 0.000 claims 3
- 238000004128 high performance liquid chromatography Methods 0.000 claims 3
- 108020004707 nucleic acids Proteins 0.000 claims 3
- 102000039446 nucleic acids Human genes 0.000 claims 3
- 238000012163 sequencing technique Methods 0.000 claims 3
- 102100037310 Serine/threonine-protein kinase D1 Human genes 0.000 claims 2
- 239000003795 chemical substances by application Substances 0.000 claims 2
- 101001074444 Homo sapiens Polycystin-1 Proteins 0.000 claims 1
- 101001074439 Homo sapiens Polycystin-2 Proteins 0.000 claims 1
- 101001026882 Homo sapiens Serine/threonine-protein kinase D2 Proteins 0.000 claims 1
- 238000003776 cleavage reaction Methods 0.000 claims 1
- 230000007017 scission Effects 0.000 claims 1
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US83278006P | 2006-07-24 | 2006-07-24 | |
| PCT/US2007/016705 WO2008094194A2 (en) | 2006-07-24 | 2007-07-24 | Pkd mutations and evaluation of same |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2009544314A JP2009544314A (ja) | 2009-12-17 |
| JP2009544314A5 true JP2009544314A5 (enExample) | 2010-10-07 |
Family
ID=39674638
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2009521815A Pending JP2009544314A (ja) | 2006-07-24 | 2007-07-24 | Ｐｋｄの変異およびその評価 |
Country Status (4)
| Country | Link |
|---|---|
| US (4) | US8771946B2 (enExample) |
| JP (1) | JP2009544314A (enExample) |
| CA (3) | CA2993381C (enExample) |
| WO (1) | WO2008094194A2 (enExample) |
Families Citing this family (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| GB201410693D0 (en) | 2014-06-16 | 2014-07-30 | Univ Southampton | Splicing modulation |
| 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 |
| 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 |
| 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 |
| CA3005247A1 (en) * | 2015-12-14 | 2017-06-22 | Cold Spring Harbor Laboratory | Antisense oligomers for treatment of polycystic kidney disease |
| US11096956B2 (en) | 2015-12-14 | 2021-08-24 | Stoke Therapeutics, Inc. | Antisense oligomers and uses thereof |
| KR20260009385A (ko) | 2017-08-25 | 2026-01-19 | 스톡 테라퓨틱스, 인크. | 병태 및 질환 치료용 안티센스 올리고머 |
| 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 |
| CN115725716B (zh) * | 2022-09-20 | 2024-04-30 | 湖南家辉生物技术有限公司 | Pkd1致病突变基因及在制备多囊肾病诊断试剂盒中的应用 |
Family Cites Families (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP0733110A1 (en) | 1993-12-24 | 1996-09-25 | University of Wales College of Medicine | Tuberous sclerosis 2 gene and uses thereof |
| US6867288B1 (en) * | 1994-10-12 | 2005-03-15 | Genzyme Corporation | Polycystic kidney disease gene |
| US6031088A (en) | 1996-05-23 | 2000-02-29 | Albert Einstein College Of Medicine Of Yeshiva University | Polycystic kidney disease PKD2 gene and uses thereof |
| US6100386A (en) * | 1996-11-01 | 2000-08-08 | Cold Spring Harbor Laboratory | Human gene/protein involved in chronic myelogenous leukemia |
| 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 |
| CA2461106C (en) * | 2003-04-11 | 2015-02-24 | Athena Diagnostics, Inc. | Compositions and methods for genetic analysis of polycystic kidney disease |
| 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 |
-
2007
- 2007-07-24 CA CA2993381A patent/CA2993381C/en active Active
- 2007-07-24 WO PCT/US2007/016705 patent/WO2008094194A2/en not_active Ceased
- 2007-07-24 CA CA3081362A patent/CA3081362C/en active Active
- 2007-07-24 JP JP2009521815A patent/JP2009544314A/ja active Pending
- 2007-07-24 CA CA2658421A patent/CA2658421C/en active Active
- 2007-07-24 US US12/309,337 patent/US8771946B2/en active Active
-
2014
- 2014-05-28 US US14/289,160 patent/US10760128B2/en active Active
-
2020
- 2020-08-31 US US17/008,385 patent/US11655508B2/en active Active
-
2023
- 2023-04-05 US US18/131,204 patent/US20230374593A1/en not_active Abandoned
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