JP2011509080A5 - - Google Patents

Info

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

2009-01-05

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

• Espacenet
• Global Dossier
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• 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