JP2006520587A5 - - Google Patents

Info

Publication number

JP2006520587A5

JP2006520587A5 JP2006501739A JP2006501739A JP2006520587A5 JP 2006520587 A5 JP2006520587 A5 JP 2006520587A5 JP 2006501739 A JP2006501739 A JP 2006501739A JP 2006501739 A JP2006501739 A JP 2006501739A JP 2006520587 A5 JP2006520587 A5 JP 2006520587A5

Authority

JP

Japan

Prior art keywords

nucleic acid

hsgk1

gene

intron

syndrome

Prior art date

2004-02-05

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.)

Pending

Links

• Espacenet
• Global Dossier
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• 238000000034 method Methods 0.000 claims 15
• 108090000623 proteins and genes Proteins 0.000 claims 10
• 150000007523 nucleic acids Chemical class 0.000 claims 9
• 239000002773 nucleotide Substances 0.000 claims 8
• 125000003729 nucleotide group Chemical group 0.000 claims 8
• 108020004707 nucleic acids Proteins 0.000 claims 6
• 102000039446 nucleic acids Human genes 0.000 claims 6
• 239000012634 fragment Substances 0.000 claims 5
• 238000000338 in vitro Methods 0.000 claims 5
• 238000003780 insertion Methods 0.000 claims 5
• 230000037431 insertion Effects 0.000 claims 5
• 108700028369 Alleles Proteins 0.000 claims 4
• 206010020772 Hypertension Diseases 0.000 claims 4
• 239000012472 biological sample Substances 0.000 claims 4
• 208000004731 long QT syndrome Diseases 0.000 claims 4
• PQSUYGKTWSAVDQ-ZVIOFETBSA-N Aldosterone Chemical compound C([C@@]1([C@@H](C(=O)CO)CC[C@H]1[C@@H]1CC2)C=O)[C@H](O)[C@@H]1[C@]1(C)C2=CC(=O)CC1 PQSUYGKTWSAVDQ-ZVIOFETBSA-N 0.000 claims 3
• PQSUYGKTWSAVDQ-UHFFFAOYSA-N Aldosterone Natural products C1CC2C3CCC(C(=O)CO)C3(C=O)CC(O)C2C2(C)C1=CC(=O)CC2 PQSUYGKTWSAVDQ-UHFFFAOYSA-N 0.000 claims 3
• 102000004127 Cytokines Human genes 0.000 claims 3
• 108090000695 Cytokines Proteins 0.000 claims 3
• 108020004414 DNA Proteins 0.000 claims 3
• 102000006771 Gonadotropins Human genes 0.000 claims 3
• 108010086677 Gonadotropins Proteins 0.000 claims 3
• 102000004887 Transforming Growth Factor beta Human genes 0.000 claims 3
• 108090001012 Transforming Growth Factor beta Proteins 0.000 claims 3
• 229960002478 aldosterone Drugs 0.000 claims 3
• 239000002299 complementary DNA Substances 0.000 claims 3
• 239000002622 gonadotropin Substances 0.000 claims 3
• 239000002395 mineralocorticoid Substances 0.000 claims 3
• ZRKFYGHZFMAOKI-QMGMOQQFSA-N tgfbeta Chemical compound C([C@H](NC(=O)[C@H](C(C)C)NC(=O)CNC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H]([C@@H](C)O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H]([C@@H](C)O)NC(=O)[C@H](CC(C)C)NC(=O)CNC(=O)[C@H](C)NC(=O)[C@H](CO)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H](NC(=O)[C@H](C)NC(=O)[C@H](C)NC(=O)[C@@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@@H](N)CCSC)C(C)C)[C@@H](C)CC)C(=O)N[C@@H]([C@@H](C)O)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CC=1C=CC=CC=1)C(=O)N[C@@H](C)C(=O)N1[C@@H](CCC1)C(=O)N[C@@H]([C@@H](C)O)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](CC=1C=CC=CC=1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](C)C(=O)N[C@@H](CC(C)C)C(=O)N1[C@@H](CCC1)C(=O)N1[C@@H](CCC1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CO)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CC(C)C)C(O)=O)C1=CC=C(O)C=C1 ZRKFYGHZFMAOKI-QMGMOQQFSA-N 0.000 claims 3
• 239000012190 activator Substances 0.000 claims 2
• 238000004458 analytical method Methods 0.000 claims 2
• 238000003745 diagnosis Methods 0.000 claims 2
• 239000003814 drug Substances 0.000 claims 2
• 239000003862 glucocorticoid Substances 0.000 claims 2
• 229940094892 gonadotropins Drugs 0.000 claims 2
• 229940037129 plain mineralocorticoids for systemic use Drugs 0.000 claims 2
• 230000002265 prevention Effects 0.000 claims 2
• 102000004169 proteins and genes Human genes 0.000 claims 2
• 239000000126 substance Substances 0.000 claims 2
• 208000011580 syndromic disease Diseases 0.000 claims 2
• 230000002103 transcriptional effect Effects 0.000 claims 2
• 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 1
• 102100035493 E3 ubiquitin-protein ligase NEDD4-like Human genes 0.000 claims 1
• 101710155393 E3 ubiquitin-protein ligase NEDD4-like Proteins 0.000 claims 1
• 108091028043 Nucleic acid sequence Proteins 0.000 claims 1
• 238000012300 Sequence Analysis Methods 0.000 claims 1
• 239000008280 blood Substances 0.000 claims 1
• 210000004369 blood Anatomy 0.000 claims 1
• 210000004027 cell Anatomy 0.000 claims 1
• 238000009396 hybridization Methods 0.000 claims 1
• 238000004519 manufacturing process Methods 0.000 claims 1
• 108020004999 messenger RNA Proteins 0.000 claims 1
• 238000012986 modification Methods 0.000 claims 1
• 230000004048 modification Effects 0.000 claims 1
• 230000002018 overexpression Effects 0.000 claims 1
• 210000003296 saliva Anatomy 0.000 claims 1
• 239000000523 sample Substances 0.000 claims 1
• 229940037128 systemic glucocorticoids Drugs 0.000 claims 1
• 210000001519 tissue Anatomy 0.000 claims 1