JP2010539958A5 - - Google Patents
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- Publication number
- JP2010539958A5 JP2010539958A5 JP2010527310A JP2010527310A JP2010539958A5 JP 2010539958 A5 JP2010539958 A5 JP 2010539958A5 JP 2010527310 A JP2010527310 A JP 2010527310A JP 2010527310 A JP2010527310 A JP 2010527310A JP 2010539958 A5 JP2010539958 A5 JP 2010539958A5
- Authority
- JP
- Japan
- Prior art keywords
- ptchd1
- asd
- mutation
- genomic sequence
- gene
- 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
- 108090000623 proteins and genes Proteins 0.000 claims description 11
- 101000738239 Homo sapiens Patched domain-containing protein 1 Proteins 0.000 claims description 7
- 102100037892 Patched domain-containing protein 1 Human genes 0.000 claims description 5
- 238000000034 method Methods 0.000 claims description 5
- 102000004169 proteins and genes Human genes 0.000 claims description 5
- 230000002159 abnormal effect Effects 0.000 claims description 4
- 238000012216 screening Methods 0.000 claims description 2
- 230000035772 mutation Effects 0.000 claims 4
- 102220633451 Patched domain-containing protein 1_L73F_mutation Human genes 0.000 claims 1
- 150000001413 amino acids Chemical class 0.000 claims 1
- 230000037430 deletion Effects 0.000 claims 1
- 238000012217 deletion Methods 0.000 claims 1
- 102000039446 nucleic acids Human genes 0.000 claims 1
- 108020004707 nucleic acids Proteins 0.000 claims 1
- 150000007523 nucleic acids Chemical class 0.000 claims 1
- 238000006467 substitution reaction Methods 0.000 claims 1
- 208000035478 Interatrial communication Diseases 0.000 description 11
- 206010003664 atrial septal defect Diseases 0.000 description 11
- 230000000694 effects Effects 0.000 description 4
- 102100036799 Adhesion G-protein coupled receptor V1 Human genes 0.000 description 2
- 102100036966 Dipeptidyl aminopeptidase-like protein 6 Human genes 0.000 description 2
- 206010064571 Gene mutation Diseases 0.000 description 2
- 101000928167 Homo sapiens Adhesion G-protein coupled receptor V1 Proteins 0.000 description 2
- 101000804935 Homo sapiens Dipeptidyl aminopeptidase-like protein 6 Proteins 0.000 description 2
- 101000967820 Homo sapiens Inactive dipeptidyl peptidase 10 Proteins 0.000 description 2
- 101001111328 Homo sapiens Nuclear factor 1 A-type Proteins 0.000 description 2
- 101000611427 Homo sapiens Polyglutamine-binding protein 1 Proteins 0.000 description 2
- 101000611731 Homo sapiens Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase Proteins 0.000 description 2
- 101000760181 Homo sapiens Zinc finger protein 41 Proteins 0.000 description 2
- 102100040449 Inactive dipeptidyl peptidase 10 Human genes 0.000 description 2
- 102100024006 Nuclear factor 1 A-type Human genes 0.000 description 2
- 102100040748 Polyglutamine-binding protein 1 Human genes 0.000 description 2
- 102100040688 Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase Human genes 0.000 description 2
- 102100030681 SH3 and multiple ankyrin repeat domains protein 3 Human genes 0.000 description 2
- 101710101741 SH3 and multiple ankyrin repeat domains protein 3 Proteins 0.000 description 2
- 102100024669 Zinc finger protein 41 Human genes 0.000 description 2
- 239000012472 biological sample Substances 0.000 description 2
- -1 DYPD Proteins 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 238000012289 standard assay Methods 0.000 description 1
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US96057207P | 2007-10-04 | 2007-10-04 | |
| US60/960,572 | 2007-10-04 | ||
| US829407P | 2007-12-20 | 2007-12-20 | |
| US61/008,294 | 2007-12-20 | ||
| PCT/CA2008/001767 WO2009043178A1 (en) | 2007-10-04 | 2008-10-03 | Biomarkers for autism spectrum disorders |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014116245A Division JP5941099B2 (ja) | 2007-10-04 | 2014-06-04 | 自閉症スペクトラム障害のためのバイオマーカー |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2010539958A JP2010539958A (ja) | 2010-12-24 |
| JP2010539958A5 true JP2010539958A5 (enExample) | 2013-12-26 |
| JP5680964B2 JP5680964B2 (ja) | 2015-03-04 |
Family
ID=40525814
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2010527310A Active JP5680964B2 (ja) | 2007-10-04 | 2008-10-03 | 自閉症スペクトラム障害のためのバイオマーカー |
| JP2014116245A Active JP5941099B2 (ja) | 2007-10-04 | 2014-06-04 | 自閉症スペクトラム障害のためのバイオマーカー |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014116245A Active JP5941099B2 (ja) | 2007-10-04 | 2014-06-04 | 自閉症スペクトラム障害のためのバイオマーカー |
Country Status (4)
| Country | Link |
|---|---|
| US (4) | US20100248235A1 (enExample) |
| JP (2) | JP5680964B2 (enExample) |
| CA (1) | CA2701202C (enExample) |
| WO (1) | WO2009043178A1 (enExample) |
Families Citing this family (23)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10522240B2 (en) | 2006-05-03 | 2019-12-31 | Population Bio, Inc. | Evaluating genetic disorders |
| US7702468B2 (en) | 2006-05-03 | 2010-04-20 | Population Diagnostics, Inc. | Evaluating genetic disorders |
| WO2009043178A1 (en) | 2007-10-04 | 2009-04-09 | The Hospital For Sick Children | Biomarkers for autism spectrum disorders |
| CA3047466A1 (en) | 2009-09-08 | 2011-03-17 | Laboratory Corporation Of America Holdings | Compositions and methods for diagnosing autism spectrum disorders |
| CA2797787C (en) * | 2010-04-29 | 2019-07-09 | Wisconsin Alumni Research Foundation | Metabolic biomarkers of autism |
| CN103392182B (zh) | 2010-08-02 | 2017-07-04 | 众有生物有限公司 | 用于发现遗传疾病中致病突变的系统和方法 |
| CA2744424A1 (en) * | 2010-09-14 | 2012-03-14 | The Hospital For Sick Children | Biomarkers for autism spectrum disorders |
| WO2012173809A2 (en) * | 2011-06-02 | 2012-12-20 | Ehli Erik | Method of identifying de novo copy number variants (cnv) using mz twins discordant for attention problems/disorders |
| DK2766483T3 (da) * | 2011-10-10 | 2022-04-19 | Hospital For Sick Children | Fremgangsmåder og sammensætninger til screening for og behandling af udviklingsforstyrrelser |
| US11180807B2 (en) | 2011-11-04 | 2021-11-23 | Population Bio, Inc. | Methods for detecting a genetic variation in attractin-like 1 (ATRNL1) gene in subject with Parkinson's disease |
| CA2863887C (en) | 2012-02-09 | 2023-01-03 | Population Diagnostics, Inc. | Methods of screening low frequency gdna variation biomarkers for pervasive developmental disorder (pdd) or pervasive developmental disorder - not otherwise specified (pdd_nos) |
| JP2015510756A (ja) * | 2012-03-09 | 2015-04-13 | アンテグラージェン | 自閉症のリスクを評価するため遺伝子型決定テスト |
| US9976180B2 (en) | 2012-09-14 | 2018-05-22 | Population Bio, Inc. | Methods for detecting a genetic variation in subjects with parkinsonism |
| WO2014052855A1 (en) | 2012-09-27 | 2014-04-03 | Population Diagnostics, Inc. | Methods and compositions for screening and treating developmental disorders |
| WO2016036403A1 (en) | 2014-09-05 | 2016-03-10 | Population Diagnostics Inc. | Methods and compositions for inhibiting and treating neurological conditions |
| US20170369945A1 (en) * | 2014-12-29 | 2017-12-28 | The Board Of Trustees Of The Leland Stanford Junior University | Methods of diagnosing autism spectrum disorders |
| US10240205B2 (en) | 2017-02-03 | 2019-03-26 | Population Bio, Inc. | Methods for assessing risk of developing a viral disease using a genetic test |
| WO2018183525A1 (en) * | 2017-03-28 | 2018-10-04 | The Regents Of The University Of California | Methods for assessing risk of or diagnosing genetic defects by identifying de novo mutations or somatic mosaic variants in sperm or somatic tissues |
| FI3625368T3 (fi) | 2018-08-08 | 2023-01-13 | Menetelmiä john cunningham -viruksen aiheuttaman progressiivin multifokaalin leukoenkefalopatian kehittymisen riskin arviointiin geneettisellä testauksella | |
| CN111575366A (zh) * | 2020-05-22 | 2020-08-25 | 深圳市亿立方生物技术有限公司 | 用于检测自闭症基因组拷贝数变异的引物组、探针组及试剂盒 |
| CN113528650B (zh) * | 2021-08-03 | 2022-03-08 | 长沙艾克曼生物科技有限公司 | Tmp21基因的表达可以作为自闭症早期筛查、早期识别和症状严重程度预测的客观指标 |
| EP4148147A1 (en) * | 2021-09-10 | 2023-03-15 | Universitätsmedizin der Johannes Gutenberg-Universität Mainz | Means and method for the diagnosis and treatment of autism spectrum disorders based on the detection and modulation of a deubiquitinase |
| CN117025758B (zh) * | 2023-09-19 | 2024-04-05 | 华北理工大学 | 环状rna在制备诊断孤独症的生物标志物中的应用 |
Family Cites Families (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US173495A (en) * | 1876-02-15 | Improvement in seed-sowers | ||
| US20080193464A1 (en) * | 2004-07-01 | 2008-08-14 | Anne Philippi | Human Autism Susceptibility Gene Encoding Prkcb1 and Uses Thereof |
| WO2009043178A1 (en) | 2007-10-04 | 2009-04-09 | The Hospital For Sick Children | Biomarkers for autism spectrum disorders |
-
2008
- 2008-10-03 WO PCT/CA2008/001767 patent/WO2009043178A1/en not_active Ceased
- 2008-10-03 US US12/681,229 patent/US20100248235A1/en not_active Abandoned
- 2008-10-03 JP JP2010527310A patent/JP5680964B2/ja active Active
- 2008-10-03 CA CA2701202A patent/CA2701202C/en active Active
-
2014
- 2014-06-04 JP JP2014116245A patent/JP5941099B2/ja active Active
-
2015
- 2015-02-24 US US14/630,205 patent/US10526653B2/en active Active
-
2019
- 2019-11-25 US US16/694,314 patent/US11254984B2/en active Active
-
2022
- 2022-01-21 US US17/581,371 patent/US12467093B2/en active Active
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