Title:
PHARMACEUTICAL COMPOSITION FOR TREATING DYSCHROMATOSIS SYMMETRICA HEREDITARIA, DYSCHROMATOSIS SYMMETRICA HEREDITARIA MODEL MOUSE, AND SCREENING METHOD FOR COMPOUND FOR TREATING DYSCHROMATOSIS SYMMETRICA HEREDITARIA
Document Type and Number:
WIPO Patent Application WO/2021/193224
Kind Code:
A1
Abstract:
Provided are a pharmaceutical composition for treating dyschromatosis symmetrica hereditaria, a dyschromatosis symmetrica hereditaria model mouse, and a screening method for a compound for treating dyschromatosis symmetrica hereditaria. This pharmaceutical composition for treating dyschromatosis symmetrica hereditaria contains, as an active ingredient, at least one compound selected from the group consisting of JAK inhibitors and STAT inhibitors.
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Inventors:
KONO MICHIHIRO (JP)
AKIYAMA MASASHI (JP)
AKIYAMA MASASHI (JP)
Application Number:
PCT/JP2021/010546
Publication Date:
September 30, 2021
Filing Date:
March 16, 2021
Export Citation:
Assignee:
NATIONAL UNIV CORPORATION TOKAI NATIONAL HIGHER EDUCATION AND RESEARCH SYSTEM (JP)
UNIV AKITA (JP)
UNIV AKITA (JP)
International Classes:
A61K45/00; A01K67/027; A61K31/122; A61K31/167; A61K31/341; A61K31/343; A61K31/345; A61K31/352; A61K31/437; A61K31/505; A61K31/506; A61K31/519; A61K31/541; A61K31/65; A61K31/7076; A61P17/00; A61P43/00; C12Q1/02; C12Q1/06; G01N33/15; G01N33/48; G01N33/50
Foreign References:
JP2018532706A | 2018-11-08 | |||
JP2019077643A | 2019-05-23 | |||
JP2019506422A | 2019-03-07 |
Other References:
ANONYMOUS: "The development of new non-invasive therapeutic strategy of dyschromatosis symmetrica hereditaria with topical agent", KAKENHI, 24 May 2016 (2016-05-24), pages 1 - 6, XP055861437, Retrieved from the Internet
KONO M., ET AL.: "Dyschromatosis Symmetrica Hereditaria and Aicardi- Goutie'res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations", JOURNAL OF INVESTIGATIVE DERMATOLOGY, ELSEVIER, NL, vol. 136, no. 4, 1 April 2016 (2016-04-01), NL , pages 872 - 875, XP055861443, ISSN: 0022-202X, DOI: 10.1016/j.jid.2015.11.028
SUGANUMA MUTSUMI, KONO MICHIHIRO, YAMANAKA MASAYOSHI, AKIYAMA MASASHI: "Pathogenesis of a variant in the 5′ untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria", PIGMENT CELL & MELANOMA RESEARCH, WILEY INTERSCIENCE, UNITED STATES, DENMARK, vol. 33, no. 4, 1 July 2020 (2020-07-01), United States, Denmark , pages 591 - 600, XP055861483, ISSN: 1755-1471, DOI: 10.1111/pcmr.12863
TOMITA YASUSHI: "Genodermatosis and RNA editing- Dyschromatosis symmetrica hereditaria caused by ADARI gene mutation", IGAKU NO AYUMI, vol. 215, no. 8, FIJITA, Shoji, pages 675 - 678
GEORGE, C.X. ; DAS, S. ; SAMUEL, C.E.: "Organization of the mouse RNA-specific adenosine deaminase Adar1 gene 5'-region and demonstration of STAT1-independent, STAT2-dependent transcriptional activation by interferon", VIROLOGY, ELSEVIER, AMSTERDAM, NL, vol. 380, no. 2, 25 October 2008 (2008-10-25), AMSTERDAM, NL , pages 338 - 343, XP025506491, ISSN: 0042-6822, DOI: 10.1016/j.virol.2008.07.029
COURT RECART ANGELA C; SADARANGANI ANIL; CHUN ELIZABETH; MASON CAYLA N; JIANG QINGFEI; BARRETT CHRISTIAN L; WALL RUSSELL; GOFF DAN: "Inhibition Of Inflammation Driven Leukemia Stem Cell Self-Renewal With a Selective JAK2 Antagonist", BLOOD, AMERICAN SOCIETY OF HEMATOLOGY, US, vol. 122, no. 21, 15 November 2013 (2013-11-15), US , pages 1481, XP086753722, ISSN: 0006-4971, DOI: 10.1182/blood.V122.21.1481.1481
IIZASA HISASHI: "A-to-I RNA editing and viral infection. Role of ADARI as host defense factor", IGOKUNO AYUMI, vol. 238, no. 5, 2011, pages 573 - 578
ANONYMOUS: "Conditional knockout mouse production contract service", FUNAKOSHI, 20 February 2020 (2020-02-20), pages 1 - 6, XP055861497, Retrieved from the Internet [retrieved on 20210520]
GUYONNEAU LAURENCE, ROSSIER ANITA, RICHARD CHRISTELLE, HUMMLER EDITH, BEERMANN FRIEDRICH: "Expression of Cre Recombinase in Pigment Cells", PIGMENT CELL RESEARCH, MUNKSGAARD INTERNATIONAL PUBLISHERS, CAMBRIDGE, MA, DK, vol. 15, no. 4, 1 August 2002 (2002-08-01), DK , pages 305 - 309, XP055861502, ISSN: 0893-5785, DOI: 10.1034/j.1600-0749.2002.02039.x
MELKI ISABELLE; FRéMOND MARIE-LOUISE: "Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics", CURRENT RHEUMATOLOGY REPORTS, CURRENT SCIENCE, PHILADELPHIA, PA, US, vol. 22, no. 7, 16 June 2020 (2020-06-16), US , XP037180780, ISSN: 1523-3774, DOI: 10.1007/s11926-020-00909-4
KONO M., ET AL.: "Dyschromatosis Symmetrica Hereditaria and Aicardi- Goutie'res Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations", JOURNAL OF INVESTIGATIVE DERMATOLOGY, ELSEVIER, NL, vol. 136, no. 4, 1 April 2016 (2016-04-01), NL , pages 872 - 875, XP055861443, ISSN: 0022-202X, DOI: 10.1016/j.jid.2015.11.028
SUGANUMA MUTSUMI, KONO MICHIHIRO, YAMANAKA MASAYOSHI, AKIYAMA MASASHI: "Pathogenesis of a variant in the 5′ untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria", PIGMENT CELL & MELANOMA RESEARCH, WILEY INTERSCIENCE, UNITED STATES, DENMARK, vol. 33, no. 4, 1 July 2020 (2020-07-01), United States, Denmark , pages 591 - 600, XP055861483, ISSN: 1755-1471, DOI: 10.1111/pcmr.12863
TOMITA YASUSHI: "Genodermatosis and RNA editing- Dyschromatosis symmetrica hereditaria caused by ADARI gene mutation", IGAKU NO AYUMI, vol. 215, no. 8, FIJITA, Shoji, pages 675 - 678
GEORGE, C.X. ; DAS, S. ; SAMUEL, C.E.: "Organization of the mouse RNA-specific adenosine deaminase Adar1 gene 5'-region and demonstration of STAT1-independent, STAT2-dependent transcriptional activation by interferon", VIROLOGY, ELSEVIER, AMSTERDAM, NL, vol. 380, no. 2, 25 October 2008 (2008-10-25), AMSTERDAM, NL , pages 338 - 343, XP025506491, ISSN: 0042-6822, DOI: 10.1016/j.virol.2008.07.029
COURT RECART ANGELA C; SADARANGANI ANIL; CHUN ELIZABETH; MASON CAYLA N; JIANG QINGFEI; BARRETT CHRISTIAN L; WALL RUSSELL; GOFF DAN: "Inhibition Of Inflammation Driven Leukemia Stem Cell Self-Renewal With a Selective JAK2 Antagonist", BLOOD, AMERICAN SOCIETY OF HEMATOLOGY, US, vol. 122, no. 21, 15 November 2013 (2013-11-15), US , pages 1481, XP086753722, ISSN: 0006-4971, DOI: 10.1182/blood.V122.21.1481.1481
IIZASA HISASHI: "A-to-I RNA editing and viral infection. Role of ADARI as host defense factor", IGOKUNO AYUMI, vol. 238, no. 5, 2011, pages 573 - 578
ANONYMOUS: "Conditional knockout mouse production contract service", FUNAKOSHI, 20 February 2020 (2020-02-20), pages 1 - 6, XP055861497, Retrieved from the Internet
GUYONNEAU LAURENCE, ROSSIER ANITA, RICHARD CHRISTELLE, HUMMLER EDITH, BEERMANN FRIEDRICH: "Expression of Cre Recombinase in Pigment Cells", PIGMENT CELL RESEARCH, MUNKSGAARD INTERNATIONAL PUBLISHERS, CAMBRIDGE, MA, DK, vol. 15, no. 4, 1 August 2002 (2002-08-01), DK , pages 305 - 309, XP055861502, ISSN: 0893-5785, DOI: 10.1034/j.1600-0749.2002.02039.x
MELKI ISABELLE; FRéMOND MARIE-LOUISE: "Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics", CURRENT RHEUMATOLOGY REPORTS, CURRENT SCIENCE, PHILADELPHIA, PA, US, vol. 22, no. 7, 16 June 2020 (2020-06-16), US , XP037180780, ISSN: 1523-3774, DOI: 10.1007/s11926-020-00909-4
Attorney, Agent or Firm:
MATSUMOTO Seiji (JP)
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