JP2010075182A5 - - Google Patents
Download PDFInfo
- Publication number
- JP2010075182A5 JP2010075182A5 JP2009239501A JP2009239501A JP2010075182A5 JP 2010075182 A5 JP2010075182 A5 JP 2010075182A5 JP 2009239501 A JP2009239501 A JP 2009239501A JP 2009239501 A JP2009239501 A JP 2009239501A JP 2010075182 A5 JP2010075182 A5 JP 2010075182A5
- Authority
- JP
- Japan
- Prior art keywords
- seq
- nucleic acid
- kcnq3
- mutation
- dna
- 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
Links
- 238000000034 method Methods 0.000 claims 34
- 150000007523 nucleic acids Chemical class 0.000 claims 32
- 230000035772 mutation Effects 0.000 claims 30
- 108020004707 nucleic acids Proteins 0.000 claims 25
- 102000039446 nucleic acids Human genes 0.000 claims 25
- 239000000523 sample Substances 0.000 claims 24
- 102000015686 KCNQ3 Potassium Channel Human genes 0.000 claims 20
- 108010038888 KCNQ3 Potassium Channel Proteins 0.000 claims 20
- 108020004414 DNA Proteins 0.000 claims 19
- 238000009396 hybridization Methods 0.000 claims 18
- 239000002773 nucleotide Substances 0.000 claims 17
- 125000003729 nucleotide group Chemical group 0.000 claims 17
- 229920001184 polypeptide Polymers 0.000 claims 15
- 102000004196 processed proteins & peptides Human genes 0.000 claims 15
- 108090000765 processed proteins & peptides Proteins 0.000 claims 15
- 206010071082 Juvenile myoclonic epilepsy Diseases 0.000 claims 14
- 208000034287 idiopathic generalized susceptibility to 7 epilepsy Diseases 0.000 claims 14
- 101000745167 Homo sapiens Neuronal acetylcholine receptor subunit alpha-4 Proteins 0.000 claims 13
- 101000994667 Homo sapiens Potassium voltage-gated channel subfamily KQT member 2 Proteins 0.000 claims 13
- 102100034354 Potassium voltage-gated channel subfamily KQT member 2 Human genes 0.000 claims 13
- 238000012360 testing method Methods 0.000 claims 13
- 108091032973 (ribonucleotides)n+m Proteins 0.000 claims 9
- 101000994663 Homo sapiens Potassium voltage-gated channel subfamily KQT member 3 Proteins 0.000 claims 8
- 239000013068 control sample Substances 0.000 claims 8
- 102000053006 human KCNQ3 Human genes 0.000 claims 8
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 7
- KZSNJWFQEVHDMF-BYPYZUCNSA-N L-valine Chemical compound CC(C)[C@H](N)C(O)=O KZSNJWFQEVHDMF-BYPYZUCNSA-N 0.000 claims 6
- 206010036790 Productive cough Diseases 0.000 claims 6
- KZSNJWFQEVHDMF-UHFFFAOYSA-N Valine Natural products CC(C)C(N)C(O)=O KZSNJWFQEVHDMF-UHFFFAOYSA-N 0.000 claims 6
- 108020004999 messenger RNA Proteins 0.000 claims 6
- 210000003802 sputum Anatomy 0.000 claims 6
- 208000024794 sputum Diseases 0.000 claims 6
- 239000004474 valine Substances 0.000 claims 6
- 101150074326 Kcnq3 gene Proteins 0.000 claims 5
- 108020004711 Nucleic Acid Probes Proteins 0.000 claims 5
- 125000000539 amino acid group Chemical group 0.000 claims 5
- 238000003556 assay Methods 0.000 claims 5
- 230000037430 deletion Effects 0.000 claims 5
- 238000012217 deletion Methods 0.000 claims 5
- 238000001514 detection method Methods 0.000 claims 5
- 239000002853 nucleic acid probe Substances 0.000 claims 5
- 238000012163 sequencing technique Methods 0.000 claims 4
- 206010016717 Fistula Diseases 0.000 claims 3
- 238000004458 analytical method Methods 0.000 claims 3
- 230000000295 complement effect Effects 0.000 claims 3
- 230000003890 fistula Effects 0.000 claims 3
- 238000011065 in-situ storage Methods 0.000 claims 3
- 239000013615 primer Substances 0.000 claims 3
- 102000053602 DNA Human genes 0.000 claims 2
- 239000003155 DNA primer Substances 0.000 claims 2
- 108020004682 Single-Stranded DNA Proteins 0.000 claims 2
- 206010015037 epilepsy Diseases 0.000 claims 2
- 208000014617 hemorrhoid Diseases 0.000 claims 2
- 239000013610 patient sample Substances 0.000 claims 2
- 238000003752 polymerase chain reaction Methods 0.000 claims 2
- 108090000623 proteins and genes Proteins 0.000 claims 2
- 102000004169 proteins and genes Human genes 0.000 claims 2
- 108020004705 Codon Proteins 0.000 claims 1
- 208000032065 Convulsion neonatal Diseases 0.000 claims 1
- 108700024394 Exon Proteins 0.000 claims 1
- 230000007812 deficiency Effects 0.000 claims 1
- 230000001747 exhibiting effect Effects 0.000 claims 1
- 210000003917 human chromosome Anatomy 0.000 claims 1
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US6314797P | 1997-10-24 | 1997-10-24 | |
| US60/063,147 | 1997-10-24 |
Related Parent Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2000517983A Division JP4520634B2 (ja) | 1997-10-24 | 1998-10-23 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2013112986A Division JP5911823B2 (ja) | 1997-10-24 | 2013-05-29 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2010075182A JP2010075182A (ja) | 2010-04-08 |
| JP2010075182A5 true JP2010075182A5 (enExample) | 2010-10-07 |
| JP5328603B2 JP5328603B2 (ja) | 2013-10-30 |
Family
ID=22047238
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2000517983A Expired - Lifetime JP4520634B2 (ja) | 1997-10-24 | 1998-10-23 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
| JP2009239501A Expired - Lifetime JP5328603B2 (ja) | 1997-10-24 | 2009-10-16 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
| JP2013112986A Expired - Lifetime JP5911823B2 (ja) | 1997-10-24 | 2013-05-29 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
Family Applications Before (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2000517983A Expired - Lifetime JP4520634B2 (ja) | 1997-10-24 | 1998-10-23 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2013112986A Expired - Lifetime JP5911823B2 (ja) | 1997-10-24 | 2013-05-29 | 良性の家族性新生児痙攣（ｂｆｎｃ）および他の癲癇において突然変異されたｋｃｎｑ２およびｋｃｎｑ３−カリウムチャンネル遺伝子 |
Country Status (5)
| Country | Link |
|---|---|
| US (3) | US6413719B1 (enExample) |
| EP (1) | EP1037900A4 (enExample) |
| JP (3) | JP4520634B2 (enExample) |
| CA (1) | CA2307316C (enExample) |
| WO (1) | WO1999021875A1 (enExample) |
Families Citing this family (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO1999007832A1 (en) | 1997-08-12 | 1999-02-18 | Bristol-Myers Squibb Company | Kcnq potassium channels and methods of modulating same |
| WO1999021875A1 (en) * | 1997-10-24 | 1999-05-06 | University Of Utah Research Foundation | Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies |
| US6794161B1 (en) | 1999-01-26 | 2004-09-21 | Neurosearch A/S | Potassium channels and genes encoding these potassium channels |
| ATE342279T1 (de) * | 1999-01-26 | 2006-11-15 | Neurosearch As | Kaliumkanäle und für diese kaliumkanäle kodierende gene |
| US6649371B1 (en) | 1999-06-11 | 2003-11-18 | Neurosearch A/S | Potassium channel KCNQ5 and sequences encoding the same |
| AU4911000A (en) * | 1999-06-11 | 2001-01-02 | Neurosearch A/S | Novel potassium channels and genes encoding these potassium channels |
| GB9915414D0 (en) * | 1999-07-01 | 1999-09-01 | Glaxo Group Ltd | Medical use |
| US6472165B1 (en) | 1999-08-03 | 2002-10-29 | Arzneimittelwerk Dresden Gmbh | Modulatory binding site in potassium channels for screening and finding new active ingredients |
| JP2003506388A (ja) * | 1999-08-04 | 2003-02-18 | アイカゲン インコーポレイテッド | 疼痛および不安症を処置または予防するための方法 |
| WO2001038564A2 (en) | 1999-11-26 | 2001-05-31 | Mcgill University | Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy |
| DE10013732A1 (de) * | 2000-03-21 | 2001-09-27 | Aventis Pharma Gmbh | Das Kaliumkanalprotein KCNQ5, ein neuer Angriffspunkt bei Erkrankungen des zentralen Nervensystems und des Herz-Kreislauf-Systems |
| US6617131B2 (en) | 2000-03-21 | 2003-09-09 | Aventis Pharma Deutschland Gmbh | Nucleic acid molecule encoding the potassium channel protein, KCNQ5 |
| US6348486B1 (en) * | 2000-10-17 | 2002-02-19 | American Home Products Corporation | Methods for modulating bladder function |
| US7537928B2 (en) * | 2003-08-22 | 2009-05-26 | Masonic Medical Research Laboratory | Mutations in ion channel proteins associated with sudden cardiac death |
| US20070117095A1 (en) * | 2003-10-13 | 2007-05-24 | Ingrid Eileen Scheffer | Diagnostic method for neonatal or infantile epilepsy syndromes |
| WO2006096648A2 (en) * | 2005-03-07 | 2006-09-14 | University Of Utah Research Foundation | Mouse model |
| KR102361394B1 (ko) * | 2017-12-28 | 2022-02-14 | 재단법인 대구경북과학기술원 | 뇌전증과 관련된 ｍｉＲＮＡ 및 그의 용도 |
| KR102248910B1 (ko) * | 2017-12-28 | 2021-05-06 | 재단법인대구경북과학기술원 | 뇌전증과 관련된 ｍｉＲＮＡ 및 그의 용도 |
| CN111499758B (zh) * | 2019-01-31 | 2023-01-31 | 中国科学院脑科学与智能技术卓越创新中心 | 筛选人钾离子通道调节剂的方法 |
| EP4031548A4 (en) * | 2019-09-17 | 2023-10-18 | Knopp Biosciences LLC | Methods of use for kv7 channel activators |
| US20230124616A1 (en) * | 2020-03-06 | 2023-04-20 | Ionis Pharmaceuticals, Inc. | Compounds and methods for modulating kcnq2 |
Family Cites Families (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5833975A (en) | 1989-03-08 | 1998-11-10 | Virogenetics Corporation | Canarypox virus expressing cytokine and/or tumor-associated antigen DNA sequence |
| US4675285A (en) | 1984-09-19 | 1987-06-23 | Genetics Institute, Inc. | Method for identification and isolation of DNA encoding a desired protein |
| ATE202571T1 (de) | 1993-09-14 | 2001-07-15 | Merck & Co Inc | Humane protein-tyrosinphosphatase decodierende cdna |
| JP3619282B2 (ja) | 1994-04-01 | 2005-02-09 | 中外製薬株式会社 | ＩｇＧＦｃ部結合タンパク質をコードする遺伝子 |
| EP2085478A1 (en) * | 1995-12-22 | 2009-08-05 | University Of Utah Research Foundation | A long QT syndrome gene which encodes KVLQT1 and its association with minK |
| JPH09191882A (ja) * | 1996-01-16 | 1997-07-29 | Japan Tobacco Inc | ヒト新規ｋ＋チャネル蛋白質をコードするｄｎａおよびその断片 |
| WO1999007832A1 (en) | 1997-08-12 | 1999-02-18 | Bristol-Myers Squibb Company | Kcnq potassium channels and methods of modulating same |
| WO1999021875A1 (en) | 1997-10-24 | 1999-05-06 | University Of Utah Research Foundation | Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies |
| GB9726339D0 (en) * | 1997-12-13 | 1998-02-11 | Zeneca Ltd | Human-derived tissue-specific potassium channel |
-
1998
- 1998-10-23 WO PCT/US1998/022375 patent/WO1999021875A1/en not_active Ceased
- 1998-10-23 EP EP98955051A patent/EP1037900A4/en not_active Withdrawn
- 1998-10-23 JP JP2000517983A patent/JP4520634B2/ja not_active Expired - Lifetime
- 1998-10-23 CA CA2307316A patent/CA2307316C/en not_active Expired - Lifetime
- 1998-10-23 US US09/177,650 patent/US6413719B1/en not_active Expired - Lifetime
-
2002
- 2002-03-14 US US10/096,578 patent/US7214483B2/en not_active Expired - Fee Related
-
2007
- 2007-02-05 US US11/702,218 patent/US9523127B2/en not_active Expired - Fee Related
-
2009
- 2009-10-16 JP JP2009239501A patent/JP5328603B2/ja not_active Expired - Lifetime
-
2013
- 2013-05-29 JP JP2013112986A patent/JP5911823B2/ja not_active Expired - Lifetime
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP2010075182A5 (enExample) | ||
| JP2014533949A5 (enExample) | ||
| JP2009523005A5 (enExample) | ||
| RU2019126483A (ru) | Варианты 17-бета-гидроксистероиддегидрогеназы 13 (hsd17b13) и их применение | |
| JP2012503985A5 (enExample) | ||
| RU2014123511A (ru) | Способы лечения, диагностики и мониторинга болезни альцгеймера | |
| JP2009509508A5 (enExample) | ||
| CA2704447A1 (en) | Predicting amd with snps within or near c2, factor b, plekha1, htra1, prelp, or loc387715 | |
| JP2011528903A5 (enExample) | ||
| EP3332031A1 (en) | Snp rs12603226 as a predictive marker for nafld | |
| CA2336236A1 (en) | Mutations in and genomic structure of herg - a long qt syndrome gene | |
| WO2009049630A1 (en) | Isothermal amplification method for detection of nucleic acid mutation | |
| JP2018512121A5 (enExample) | ||
| JP2013074888A (ja) | ＩＬ２８Ｂ（ｒｓ８０９９９１７）とＩＴＰＡ（ｒｓ１１２７３５４）の変異を検出する方法 | |
| JP2012507291A5 (enExample) | ||
| KR101646189B1 (ko) | 내인성 아토피 피부염 진단용 마커 및 그의 용도 | |
| KR101076612B1 (ko) | 윌슨병 진단용 조성물 | |
| KR101023194B1 (ko) | 아토피 피부염 진단용 마커 및 그의 용도 | |
| KR101728023B1 (ko) | Ｐｃｒ―ｌｄｒ을 이용한 ａｔｐ７ｂ 유전자의 돌연변이 검출 | |
| WO2010071405A1 (en) | Markers for detecting predisposition for risk, incidence and progression of osteoarthritis | |
| WO2007119557A1 (ja) | コイヘルペスウイルス（ｋｈｖ）の検出方法 | |
| JP5860667B2 (ja) | Ｅｇｆｒエクソン２１ｌ８５８ｒ遺伝子多型検出用プライマーセット及びその用途 | |
| KR101598327B1 (ko) | Dna 복제수 변이를 이용한 강직성 척추염 발병 위험도 예측용 조성물 및 이를 이용한 예측 방법 | |
| JP5017947B2 (ja) | 複数の塩基多型の同定方法 | |
| Du et al. | A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber’s hereditary optic neuropathy (LHON) |