JP5305921B2 - フィラグリン - Google Patents

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JP5305921B2
JP5305921B2 JP2008545095A JP2008545095A JP5305921B2 JP 5305921 B2 JP5305921 B2 JP 5305921B2 JP 2008545095 A JP2008545095 A JP 2008545095A JP 2008545095 A JP2008545095 A JP 2008545095A JP 5305921 B2 JP5305921 B2 JP 5305921B2
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filaggrin
flg
mutation
gene
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JP2009523411A (ja
JP2009523411A5 (enExample
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ウィリアム ヘンリー アーウィン マクリーン
フランシス ジェイン ドロシー スミス
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ザ ユニヴァーシティー コート オブ ザ ユニヴァーシティー オブ ダンディー
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027New or modified breeds of vertebrates
    • A01K67/0275Genetically modified vertebrates, e.g. transgenic
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P11/00Drugs for disorders of the respiratory system
    • A61P11/06Antiasthmatics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61P17/00Drugs for dermatological disorders
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61P17/00Drugs for dermatological disorders
    • A61P17/04Antipruritics
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    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P17/00Drugs for dermatological disorders
    • A61P17/06Antipsoriatics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • C12Q1/683Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/686Polymerase chain reaction [PCR]
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53Immunoassay; Biospecific binding assay; Materials therefor
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6881Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids from skin
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    • C12Q2600/156Polymorphic or mutational markers
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    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/12Pulmonary diseases
    • G01N2800/122Chronic or obstructive airway disorders, e.g. asthma COPD
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/20Dermatological disorders
    • G01N2800/202Dermatitis
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/20Dermatological disorders
    • G01N2800/205Scaling palpular diseases, e.g. psoriasis, pytiriasis
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/24Immunology or allergic disorders

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  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
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  • Hematology (AREA)
  • Pathology (AREA)
  • Urology & Nephrology (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Cell Biology (AREA)
  • General Physics & Mathematics (AREA)
  • Food Science & Technology (AREA)
  • Dermatology (AREA)
  • Pulmonology (AREA)
  • Environmental Sciences (AREA)
  • Animal Husbandry (AREA)
  • Biodiversity & Conservation Biology (AREA)
JP2008545095A 2005-12-15 2006-12-15 フィラグリン Expired - Fee Related JP5305921B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GBGB0525492.5A GB0525492D0 (en) 2005-12-15 2005-12-15 Filaggrin
GB0525492.5 2005-12-15
PCT/GB2006/004707 WO2007068946A2 (en) 2005-12-15 2006-12-15 Identification of loss-of-function mutations in filaggrin causing ichthyosis vulgaris and predisposing to other diseases

Publications (3)

Publication Number Publication Date
JP2009523411A JP2009523411A (ja) 2009-06-25
JP2009523411A5 JP2009523411A5 (enExample) 2010-02-12
JP5305921B2 true JP5305921B2 (ja) 2013-10-02

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ID=35736147

Family Applications (1)

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JP2008545095A Expired - Fee Related JP5305921B2 (ja) 2005-12-15 2006-12-15 フィラグリン

Country Status (5)

Country Link
US (1) US8999635B2 (enExample)
EP (1) EP1960539B1 (enExample)
JP (1) JP5305921B2 (enExample)
GB (2) GB0525492D0 (enExample)
WO (1) WO2007068946A2 (enExample)

Families Citing this family (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB0600948D0 (en) 2006-01-18 2006-02-22 Univ Dundee Prevention/Treatment Of Ichthyosis Vulgaris, Atopy And Other Disorders
US20100322860A1 (en) * 2007-06-28 2010-12-23 Peter Jacobus Caspers Method for determination of a potential mutation
EP2322656A1 (en) * 2009-11-17 2011-05-18 Centre National de la Recherche Scientifique (C.N.R.S) Methods for diagnosing skin diseases
AU2010321784B2 (en) 2009-11-23 2014-04-24 Research Development Foundation Recombinant filaggrin polypeptides for cell importation
JP5771123B2 (ja) * 2011-11-09 2015-08-26 株式会社 資生堂 プロフィラグリンc末端ドメイン特異的抗体及びその用途
GB201222881D0 (en) * 2012-12-19 2013-01-30 Univ Dundee Animal model
JP5943945B2 (ja) * 2014-01-29 2016-07-05 株式会社 資生堂 プロフィラグリンc末端ドメイン特異的抗体及びその用途
JP6803113B2 (ja) * 2016-07-01 2020-12-23 共栄化学工業株式会社 評価方法及び皮膚外用剤
RU2673804C1 (ru) * 2018-01-25 2018-11-30 ФЕДЕРАЛЬНОЕ ГОСУДАРСТВЕННОЕ БЮДЖЕТНОЕ НАУЧНОЕ УЧРЕЖДЕНИЕ "ФЕДЕРАЛЬНЫЙ ИССЛЕДОВАТЕЛЬСКИЙ ЦЕНТР ИНСТИТУТ ЦИТОЛОГИИ И ГЕНЕТИКИ СИБИРСКОГО ОТДЕЛЕНИЯ РОССИЙСКОЙ АКАДЕМИИ НАУК" (ИЦиГ СО РАН) Способ выявления мутаций 2282del4, R501X, R2447X в гене филаггрина (FLG) при вульгарном ихтиозе и атопическом дерматите
WO2019195714A1 (en) * 2018-04-05 2019-10-10 Azitra Inc Methods and compositions for treating skin disease with recombinant microorganisms
WO2020076770A1 (en) * 2018-10-08 2020-04-16 Yale University Selective binding and aggregation of human keratin in the skin barrier using human filaggrin subdomains sd67 and sd150
CN113092768A (zh) * 2019-12-23 2021-07-09 首都医科大学附属北京世纪坛医院 尿液角蛋白,ii型细胞骨架1及其多肽片段在过敏性疾病中的应用
CN116874576B (zh) * 2023-06-28 2024-03-12 胡荣洋 一种重组人源化丝聚蛋白及其制备方法和应用
CN118460707B (zh) * 2024-07-15 2024-09-17 山东大学 检测寻常鱼鳞病相关flg基因突变的引物组、试剂盒及方法

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2002512939A (ja) * 1997-11-28 2002-05-08 イノジェネティックス・ナムローゼ・フェンノートシャップ 診断および治療のためのツールとしての、リューマチ性関節炎の血清により認識されるシトルリン含有合成ペプチド
US6143502A (en) * 1999-03-31 2000-11-07 University Of Utah Research Foundation Dual-luciferase reporter system
US6458538B1 (en) 1999-12-14 2002-10-01 Ptc Therapeutics, Inc. Methods of assaying for compounds that inhibit premature translation termination and nonsense-mediated RNA decay
GB0111324D0 (en) * 2001-05-09 2001-07-04 Unilever Plc Ambient stable beverage
EP1402889A1 (en) * 2001-06-13 2004-03-31 Masayuki Arakawa Remedies for diseases caused by nonsense mutation
EP1543157A4 (en) 2002-07-24 2006-11-15 Ptc Therapeutics Inc METHODS FOR IDENTIFYING SMALL MOLECULES MODULATING PREMATURE TRANSLATION TERMINATION AND DEGRADATION OF INDUCED MRNA BY NON-SENSE MUTATION
FI20031927A0 (fi) 2003-12-31 2003-12-31 Faron Pharmaceuticals Oy Terapeuttisesti vaikuttavia aineita ja niiden käyttö
GB0600948D0 (en) 2006-01-18 2006-02-22 Univ Dundee Prevention/Treatment Of Ichthyosis Vulgaris, Atopy And Other Disorders

Also Published As

Publication number Publication date
GB0812834D0 (en) 2008-08-20
US8999635B2 (en) 2015-04-07
JP2009523411A (ja) 2009-06-25
WO2007068946A2 (en) 2007-06-21
GB2447202A (en) 2008-09-03
US20100017896A1 (en) 2010-01-21
WO2007068946A3 (en) 2007-12-21
EP1960539A2 (en) 2008-08-27
GB0525492D0 (en) 2006-01-25
EP1960539B1 (en) 2012-09-19

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