JP2011523552A5 - - Google Patents
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- JP2011523552A5 JP2011523552A5 JP2011509791A JP2011509791A JP2011523552A5 JP 2011523552 A5 JP2011523552 A5 JP 2011523552A5 JP 2011509791 A JP2011509791 A JP 2011509791A JP 2011509791 A JP2011509791 A JP 2011509791A JP 2011523552 A5 JP2011523552 A5 JP 2011523552A5
- Authority
- JP
- Japan
- Prior art keywords
- single nucleotide
- nucleic acid
- nucleotide polymorphism
- group
- target nucleic
- 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
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- 239000002773 nucleotide Substances 0.000 claims 25
- 125000003729 nucleotide group Chemical group 0.000 claims 25
- 238000000034 method Methods 0.000 claims 19
- 108020004707 nucleic acids Proteins 0.000 claims 18
- 102000039446 nucleic acids Human genes 0.000 claims 18
- 150000007523 nucleic acids Chemical class 0.000 claims 18
- 206010067584 Type 1 diabetes mellitus Diseases 0.000 claims 11
- 210000004027 cell Anatomy 0.000 claims 9
- 239000003814 drug Substances 0.000 claims 9
- 239000003795 chemical substances by application Substances 0.000 claims 7
- 210000000227 basophil cell of anterior lobe of hypophysis Anatomy 0.000 claims 6
- 210000000349 chromosome Anatomy 0.000 claims 6
- 239000000203 mixture Substances 0.000 claims 6
- 108020004459 Small interfering RNA Proteins 0.000 claims 5
- 230000035772 mutation Effects 0.000 claims 5
- 229920000642 polymer Polymers 0.000 claims 5
- 206010012601 diabetes mellitus Diseases 0.000 claims 4
- 229940079593 drug Drugs 0.000 claims 4
- 101001069891 Homo sapiens RAS guanyl-releasing protein 1 Proteins 0.000 claims 3
- 101000904499 Homo sapiens Transcription regulator protein BACH2 Proteins 0.000 claims 3
- 101000671855 Homo sapiens Ubiquitin-associated and SH3 domain-containing protein A Proteins 0.000 claims 3
- 101000857276 Homo sapiens Zinc finger protein GLIS3 Proteins 0.000 claims 3
- 102000004137 Lysophosphatidic Acid Receptors Human genes 0.000 claims 3
- 108090000642 Lysophosphatidic Acid Receptors Proteins 0.000 claims 3
- 102100023998 Transcription regulator protein BACH2 Human genes 0.000 claims 3
- 102100040337 Ubiquitin-associated and SH3 domain-containing protein A Human genes 0.000 claims 3
- 102100025879 Zinc finger protein GLIS3 Human genes 0.000 claims 3
- 230000006378 damage Effects 0.000 claims 3
- 108090000623 proteins and genes Proteins 0.000 claims 3
- MSWZFWKMSRAUBD-IVMDWMLBSA-N 2-amino-2-deoxy-D-glucopyranose Chemical compound N[C@H]1C(O)O[C@H](CO)[C@@H](O)[C@@H]1O MSWZFWKMSRAUBD-IVMDWMLBSA-N 0.000 claims 2
- 108700028369 Alleles Proteins 0.000 claims 2
- 102000051325 Glucagon Human genes 0.000 claims 2
- 108060003199 Glucagon Proteins 0.000 claims 2
- 101100493653 Homo sapiens BACH2 gene Proteins 0.000 claims 2
- 101100315947 Homo sapiens UBASH3A gene Proteins 0.000 claims 2
- 108091034117 Oligonucleotide Proteins 0.000 claims 2
- 102100034220 RAS guanyl-releasing protein 1 Human genes 0.000 claims 2
- 238000004458 analytical method Methods 0.000 claims 2
- 230000006907 apoptotic process Effects 0.000 claims 2
- MSWZFWKMSRAUBD-UHFFFAOYSA-N beta-D-galactosamine Natural products NC1C(O)OC(CO)C(O)C1O MSWZFWKMSRAUBD-UHFFFAOYSA-N 0.000 claims 2
- 239000003937 drug carrier Substances 0.000 claims 2
- 230000007614 genetic variation Effects 0.000 claims 2
- MASNOZXLGMXCHN-ZLPAWPGGSA-N glucagon Chemical compound C([C@@H](C(=O)N[C@H](C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@@H](CC=1C2=CC=CC=C2NC=1)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCSC)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H]([C@@H](C)O)C(O)=O)C(C)C)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](C)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CO)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CO)NC(=O)[C@H](CC=1C=CC(O)=CC=1)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](CC=1C=CC=CC=1)NC(=O)[C@@H](NC(=O)CNC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](N)CC=1NC=NC=1)[C@@H](C)O)[C@@H](C)O)C1=CC=CC=C1 MASNOZXLGMXCHN-ZLPAWPGGSA-N 0.000 claims 2
- 229960004666 glucagon Drugs 0.000 claims 2
- 229960002442 glucosamine Drugs 0.000 claims 2
- 238000009396 hybridization Methods 0.000 claims 2
- NOESYZHRGYRDHS-UHFFFAOYSA-N insulin Chemical compound N1C(=O)C(NC(=O)C(CCC(N)=O)NC(=O)C(CCC(O)=O)NC(=O)C(C(C)C)NC(=O)C(NC(=O)CN)C(C)CC)CSSCC(C(NC(CO)C(=O)NC(CC(C)C)C(=O)NC(CC=2C=CC(O)=CC=2)C(=O)NC(CCC(N)=O)C(=O)NC(CC(C)C)C(=O)NC(CCC(O)=O)C(=O)NC(CC(N)=O)C(=O)NC(CC=2C=CC(O)=CC=2)C(=O)NC(CSSCC(NC(=O)C(C(C)C)NC(=O)C(CC(C)C)NC(=O)C(CC=2C=CC(O)=CC=2)NC(=O)C(CC(C)C)NC(=O)C(C)NC(=O)C(CCC(O)=O)NC(=O)C(C(C)C)NC(=O)C(CC(C)C)NC(=O)C(CC=2NC=NC=2)NC(=O)C(CO)NC(=O)CNC2=O)C(=O)NCC(=O)NC(CCC(O)=O)C(=O)NC(CCCNC(N)=N)C(=O)NCC(=O)NC(CC=3C=CC=CC=3)C(=O)NC(CC=3C=CC=CC=3)C(=O)NC(CC=3C=CC(O)=CC=3)C(=O)NC(C(C)O)C(=O)N3C(CCC3)C(=O)NC(CCCCN)C(=O)NC(C)C(O)=O)C(=O)NC(CC(N)=O)C(O)=O)=O)NC(=O)C(C(C)CC)NC(=O)C(CO)NC(=O)C(C(C)O)NC(=O)C1CSSCC2NC(=O)C(CC(C)C)NC(=O)C(NC(=O)C(CCC(N)=O)NC(=O)C(CC(N)=O)NC(=O)C(NC(=O)C(N)CC=1C=CC=CC=1)C(C)C)CC1=CN=CN1 NOESYZHRGYRDHS-UHFFFAOYSA-N 0.000 claims 2
- 230000003914 insulin secretion Effects 0.000 claims 2
- 230000028327 secretion Effects 0.000 claims 2
- 230000011664 signaling Effects 0.000 claims 2
- 238000001712 DNA sequencing Methods 0.000 claims 1
- WQZGKKKJIJFFOK-GASJEMHNSA-N Glucose Natural products OC[C@H]1OC(O)[C@H](O)[C@@H](O)[C@@H]1O WQZGKKKJIJFFOK-GASJEMHNSA-N 0.000 claims 1
- 102000004877 Insulin Human genes 0.000 claims 1
- 108090001061 Insulin Proteins 0.000 claims 1
- -1 RASGRPl Proteins 0.000 claims 1
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 claims 1
- 230000001363 autoimmune Effects 0.000 claims 1
- 230000002759 chromosomal effect Effects 0.000 claims 1
- 230000000295 complement effect Effects 0.000 claims 1
- 230000037430 deletion Effects 0.000 claims 1
- 238000012217 deletion Methods 0.000 claims 1
- 230000002222 downregulating effect Effects 0.000 claims 1
- 230000000694 effects Effects 0.000 claims 1
- 239000008103 glucose Substances 0.000 claims 1
- 210000004969 inflammatory cell Anatomy 0.000 claims 1
- 230000037431 insertion Effects 0.000 claims 1
- 238000003780 insertion Methods 0.000 claims 1
- 229940125396 insulin Drugs 0.000 claims 1
- 238000004519 manufacturing process Methods 0.000 claims 1
- 238000002493 microarray Methods 0.000 claims 1
- 210000000822 natural killer cell Anatomy 0.000 claims 1
- 239000013610 patient sample Substances 0.000 claims 1
- 239000012985 polymerization agent Substances 0.000 claims 1
- 238000006116 polymerization reaction Methods 0.000 claims 1
- 102000054765 polymorphisms of proteins Human genes 0.000 claims 1
- 102000004169 proteins and genes Human genes 0.000 claims 1
- 238000003753 real-time PCR Methods 0.000 claims 1
- 239000000523 sample Substances 0.000 claims 1
- 150000003384 small molecules Chemical class 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US5404008P | 2008-05-16 | 2008-05-16 | |
| US61/054,040 | 2008-05-16 | ||
| PCT/US2009/044356 WO2009140679A2 (en) | 2008-05-16 | 2009-05-18 | Genetic alterations on chromosomes 21q, 6q and 15q and methods of use thereof for the diagnosis and treatment of type i diabetes |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2011523552A JP2011523552A (ja) | 2011-08-18 |
| JP2011523552A5 true JP2011523552A5 (https=) | 2012-07-05 |
| JP6095889B2 JP6095889B2 (ja) | 2017-03-15 |
Family
ID=41319379
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2011509791A Expired - Fee Related JP6095889B2 (ja) | 2008-05-16 | 2009-05-18 | 染色体２１ｑ、６ｑ、および１５ｑの遺伝子変異およびこれらを使用して１型糖尿病を診断および治療する方法 |
Country Status (6)
| Country | Link |
|---|---|
| US (2) | US20110236370A1 (https=) |
| EP (1) | EP2291544B1 (https=) |
| JP (1) | JP6095889B2 (https=) |
| AU (1) | AU2009246134B2 (https=) |
| CA (1) | CA2724475C (https=) |
| WO (1) | WO2009140679A2 (https=) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP5899527B2 (ja) * | 2011-03-14 | 2016-04-06 | 国立研究開発法人理化学研究所 | 第６染色体短腕２１．３３領域の一塩基多型に基づく抗てんかん薬による薬疹リスクの検査方法 |
| US10125395B2 (en) * | 2011-10-18 | 2018-11-13 | The Children's Hospital Of Philadelphia | Genetic alterations and methods of use thereof for the diagnosis and treatment of type I diabetes |
| EP3586866A1 (en) | 2018-06-28 | 2020-01-01 | Universität Zürich | Immunodominant proteins and fragments in multiple sclerosis |
| CN109402117B (zh) * | 2018-11-07 | 2022-03-01 | 上海中医药大学附属曙光医院 | 一种沉默小鼠肠道rasgrp1表达的腺相关病毒及其制备方法和应用 |
| KR102169699B1 (ko) * | 2019-12-27 | 2020-10-23 | 주식회사 클리노믹스 | 유전자 검사를 위한 맞춤형 유전자칩 및 이의 제작 방법 |
| CN114427002B (zh) * | 2022-03-17 | 2023-06-02 | 江苏省人民医院（南京医科大学第一附属医院） | 基于22个snp易感位点评估1型糖尿病患病风险的试剂盒 |
Family Cites Families (32)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CA1202962A (en) | 1982-10-19 | 1986-04-08 | David P. Clifford | Substituted n-phenyl-n'-benzoyl ureas and their use as insecticides and acaricides |
| NZ207394A (en) | 1983-03-08 | 1987-03-06 | Commw Serum Lab Commission | Detecting or determining sequence of amino acids |
| US4965188A (en) | 1986-08-22 | 1990-10-23 | Cetus Corporation | Process for amplifying, detecting, and/or cloning nucleic acid sequences using a thermostable enzyme |
| US4683195A (en) | 1986-01-30 | 1987-07-28 | Cetus Corporation | Process for amplifying, detecting, and/or-cloning nucleic acid sequences |
| ES2217250T3 (es) | 1990-06-15 | 2004-11-01 | Scios Inc. | Mamifero transgenico, no humano que muestra la patologia de formacion amiloides de la enfermedad de alzheimer. |
| US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| 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 |
| AU671093B2 (en) | 1992-01-07 | 1996-08-15 | Elan Pharmaceuticals, Inc. | Transgenic animal models for alzheimer's disease |
| US5604102A (en) | 1992-04-15 | 1997-02-18 | Athena Neurosciences, Inc. | Methods of screening for β-amyloid peptide production inhibitors |
| GB9212416D0 (en) | 1992-06-11 | 1992-07-22 | Medical Res Council | Reversible binding substances |
| EP0786522A2 (en) | 1992-07-17 | 1997-07-30 | Ribozyme Pharmaceuticals, Inc. | Enzymatic RNA molecules for treatment of stenotic conditions |
| US5877399A (en) | 1994-01-27 | 1999-03-02 | Johns Hopkins University | Transgenic mice expressing APP-Swedish mutation develop progressive neurologic disease |
| US6447796B1 (en) | 1994-05-16 | 2002-09-10 | The United States Of America As Represented By The Secretary Of The Army | Sustained release hydrophobic bioactive PLGA microspheres |
| US5849999A (en) | 1996-10-16 | 1998-12-15 | The Mclean Hospital Corporation | Transgenic non-human mice expressing Flag-APP-C100 protein develop alzheimer's disease brain morphology and behavior |
| US7312196B2 (en) * | 1997-01-08 | 2007-12-25 | Amylin Pharmaceuticals, Inc. | Formulations for amylin agonist peptides |
| US6057098A (en) | 1997-04-04 | 2000-05-02 | Biosite Diagnostics, Inc. | Polyvalent display libraries |
| US6395713B1 (en) | 1997-07-23 | 2002-05-28 | Ribozyme Pharmaceuticals, Inc. | Compositions for the delivery of negatively charged molecules |
| DE60040274D1 (de) | 1999-03-10 | 2008-10-30 | Phogen Ltd | Verabreichung von nukleinsäuren und proteinen an zellen |
| US6841535B2 (en) | 2000-07-31 | 2005-01-11 | Active Motif | Peptide-mediated transfection agents and methods of use |
| US20020130430A1 (en) | 2000-12-29 | 2002-09-19 | Castor Trevor Percival | Methods for making polymer microspheres/nanospheres and encapsulating therapeutic proteins and other products |
| GB0104440D0 (en) * | 2001-02-22 | 2001-04-11 | Oxford Biomedica Ltd | Novel genes |
| US7205106B1 (en) * | 2001-07-20 | 2007-04-17 | Roche Molecular Systems, Inc. | Association of polymorphisms in IL4-related genes with autoimmune disease |
| US20030152951A1 (en) * | 2001-07-20 | 2003-08-14 | Mirel Daniel B. | IL-4 receptor sequence variation associated with type 1 diabetes |
| US7060498B1 (en) | 2001-11-28 | 2006-06-13 | Genta Salus Llc | Polycationic water soluble copolymer and method for transferring polyanionic macromolecules across biological barriers |
| US7141540B2 (en) | 2001-11-30 | 2006-11-28 | Genta Salus Llc | Cyclodextrin grafted biocompatible amphilphilic polymer and methods of preparation and use thereof |
| CA2441701C (en) * | 2002-10-04 | 2010-07-13 | F. Hoffmann-La Roche Ag | Detection of il4 and il13 polymorphisms in determination of type 1 diabetes susceptibility |
| AU2003295600A1 (en) * | 2002-11-14 | 2004-06-15 | Dharmacon, Inc. | Functional and hyperfunctional sirna |
| WO2004058805A2 (en) * | 2002-12-26 | 2004-07-15 | Asahi Kasei Pharma Corporation | T cell activating gene |
| WO2005116204A1 (ja) * | 2004-05-11 | 2005-12-08 | Rnai Co., Ltd. | Ｒｎａ干渉を生じさせるポリヌクレオチド、および、これを用いた遺伝子発現抑制方法 |
| US20080199514A1 (en) * | 2004-07-09 | 2008-08-21 | The Burnham Institute | Functional Variant of Lymphoid Tyrosine Phosphatase is Associated with Autoimmune Disorders |
| WO2007128884A1 (en) * | 2006-05-09 | 2007-11-15 | Oy Jurilab Ltd | Novel genes and markers in type 2 diabetes and obesity |
| WO2007138691A1 (ja) * | 2006-05-31 | 2007-12-06 | National University Corporation Nagoya University | 多発性嚢胞腎疾患関連遺伝子及びその利用 |
-
2009
- 2009-05-18 CA CA2724475A patent/CA2724475C/en active Active
- 2009-05-18 WO PCT/US2009/044356 patent/WO2009140679A2/en not_active Ceased
- 2009-05-18 AU AU2009246134A patent/AU2009246134B2/en not_active Ceased
- 2009-05-18 JP JP2011509791A patent/JP6095889B2/ja not_active Expired - Fee Related
- 2009-05-18 EP EP09747760.8A patent/EP2291544B1/en not_active Not-in-force
-
2010
- 2010-11-16 US US12/947,564 patent/US20110236370A1/en not_active Abandoned
-
2015
- 2015-02-20 US US14/628,147 patent/US10066266B2/en active Active
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