JP2011509080A5 - - Google Patents
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- Publication number
- JP2011509080A5 JP2011509080A5 JP2010540991A JP2010540991A JP2011509080A5 JP 2011509080 A5 JP2011509080 A5 JP 2011509080A5 JP 2010540991 A JP2010540991 A JP 2010540991A JP 2010540991 A JP2010540991 A JP 2010540991A JP 2011509080 A5 JP2011509080 A5 JP 2011509080A5
- Authority
- JP
- Japan
- Prior art keywords
- pcdh19
- protein
- functional
- nucleotide sequence
- polypeptide
- 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
- 102100036389 Protocadherin-19 Human genes 0.000 claims 40
- 101710157832 Protocadherin-19 Proteins 0.000 claims 39
- 239000002773 nucleotide Substances 0.000 claims 14
- 125000003729 nucleotide group Chemical group 0.000 claims 14
- 208000008425 Protein deficiency Diseases 0.000 claims 9
- 239000012634 fragment Substances 0.000 claims 9
- 229920001184 polypeptide Polymers 0.000 claims 9
- 102000004196 processed proteins & peptides Human genes 0.000 claims 9
- 108090000765 processed proteins & peptides Proteins 0.000 claims 9
- 108700026244 Open Reading Frames Proteins 0.000 claims 8
- 201000010099 disease Diseases 0.000 claims 8
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims 8
- 238000000034 method Methods 0.000 claims 8
- 125000003275 alpha amino acid group Chemical group 0.000 claims 6
- 108091033319 polynucleotide Proteins 0.000 claims 6
- 239000002157 polynucleotide Substances 0.000 claims 6
- 102000040430 polynucleotide Human genes 0.000 claims 6
- 230000004075 alteration Effects 0.000 claims 5
- 238000012986 modification Methods 0.000 claims 5
- 230000004048 modification Effects 0.000 claims 5
- 102000004169 proteins and genes Human genes 0.000 claims 4
- 108090000623 proteins and genes Proteins 0.000 claims 4
- 238000012216 screening Methods 0.000 claims 3
- 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 claims 2
- 208000036626 Mental retardation Diseases 0.000 claims 2
- 238000011156 evaluation Methods 0.000 claims 2
- 239000000126 substance Substances 0.000 claims 2
- 238000012360 testing method Methods 0.000 claims 2
- 238000009007 Diagnostic Kit Methods 0.000 claims 1
- 208000031695 Female restricted epilepsy with intellectual disability Diseases 0.000 claims 1
- 101001072243 Homo sapiens Protocadherin-19 Proteins 0.000 claims 1
- 108020005187 Oligonucleotide Probes Proteins 0.000 claims 1
- 239000012472 biological sample Substances 0.000 claims 1
- 239000003795 chemical substances by application Substances 0.000 claims 1
- 230000000295 complement effect Effects 0.000 claims 1
- 208000017432 developmental and epileptic encephalopathy 9 Diseases 0.000 claims 1
- 208000011579 developmental and epileptic encephalopathy, 9 Diseases 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 239000003814 drug Substances 0.000 claims 1
- 229940079593 drug Drugs 0.000 claims 1
- 206010015037 epilepsy Diseases 0.000 claims 1
- 230000035772 mutation Effects 0.000 claims 1
- 239000002751 oligonucleotide probe Substances 0.000 claims 1
- 230000004853 protein function Effects 0.000 claims 1
- 238000006467 substitution reaction Methods 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US1017608P | 2008-01-04 | 2008-01-04 | |
| US61/010,176 | 2008-01-04 | ||
| PCT/AU2009/000008 WO2009086591A1 (en) | 2008-01-04 | 2009-01-05 | Diagnostic and therapeutic methods for efmr (epilepsy and mental retardation limited to females) |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2011509080A JP2011509080A (ja) | 2011-03-24 |
| JP2011509080A5 true JP2011509080A5 (enExample) | 2012-02-23 |
| JP5624892B2 JP5624892B2 (ja) | 2014-11-12 |
Family
ID=40852700
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2010540991A Active JP5624892B2 (ja) | 2008-01-04 | 2009-01-05 | Ｅｆｍｒ（女性に限られた癲癇及び精神遅滞）の診断方法及び治療方法 |
Country Status (4)
| Country | Link |
|---|---|
| US (2) | US9873723B2 (enExample) |
| JP (1) | JP5624892B2 (enExample) |
| CA (1) | CA2711497C (enExample) |
| WO (1) | WO2009086591A1 (enExample) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2023044545A1 (en) * | 2021-09-27 | 2023-03-30 | The Florey Institute Of Neuroscience And Mental Health | Compositions and methods for the treatment of pcdh19 related disorders |
| US20250340874A1 (en) * | 2021-12-22 | 2025-11-06 | Ionis Pharmaceuticals, Inc. | Compounds and methods for reducing pcdh19 expression |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6582908B2 (en) * | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| ES2153807T3 (es) * | 1997-08-08 | 2005-06-16 | Biomerieux B.V. | Secuencias de acido nucleico que se pueden utilizar como cebadores y sondas en la amplificacion y deteccion de todos los subtipos de vih-1. |
| EP1174459A1 (en) | 2000-07-20 | 2002-01-23 | Huntsman International Llc | Foamed thermoplastic polyurethanes |
| EP1497319A2 (en) * | 2001-05-02 | 2005-01-19 | Incyte Genomics, Inc. | Cell adhesion and extracellular matrix proteins |
| US7300788B2 (en) * | 2002-10-08 | 2007-11-27 | Affymetrix, Inc. | Method for genotyping polymorphisms in humans |
| AU2003298605B2 (en) * | 2002-10-16 | 2007-10-18 | Gen-Probe Incorporated | Compositions and methods for detecting west nile virus |
| US7250289B2 (en) * | 2002-11-20 | 2007-07-31 | Affymetrix, Inc. | Methods of genetic analysis of mouse |
| CA2566286A1 (en) * | 2004-05-11 | 2005-12-08 | Rnai Co., Ltd. | Polynucleotide causing rna interfere and method of regulating gene expression with the use of the same |
| WO2007047796A2 (en) | 2005-10-17 | 2007-04-26 | Institute For Systems Biology | Tissue-and serum-derived glycoproteins and methods of their use |
| US7901882B2 (en) * | 2006-03-31 | 2011-03-08 | Affymetrix, Inc. | Analysis of methylation using nucleic acid arrays |
-
2009
- 2009-01-05 US US12/735,324 patent/US9873723B2/en active Active
- 2009-01-05 JP JP2010540991A patent/JP5624892B2/ja active Active
- 2009-01-05 WO PCT/AU2009/000008 patent/WO2009086591A1/en not_active Ceased
- 2009-01-05 CA CA2711497A patent/CA2711497C/en active Active
-
2018
- 2018-01-09 US US15/865,806 patent/US12139521B2/en active Active
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