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公开(公告)号：US20230193389A1
公开(公告)日：2023-06-22
申请号：US17967277
申请日：2022-10-17
Applicant: ITEK VENTURES PTY LTD , The University of Melbourne , Central Adelaide Local Health Network Incorporated
Inventor： Sarah Elizabeth Heron , Leanne Michelle Dibbens , Samuel Frank Berkovic , Ingrid Eileen Scheffer , John Charles Mulley
IPC: C12Q1/6883 , C07K14/705 , C07K14/47 , C07K16/18 , G01N27/447
CPC classification number: C12Q1/6883 , C07K14/705 , C07K14/47 , C07K16/18 , G01N27/447 , C12Q2600/156 , C12Q2600/118 , C12Q2600/136
Abstract: The present invention related to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.
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公开(公告)号：US09631234B2
公开(公告)日：2017-04-25
申请号：US13690405
申请日：2012-11-30
Inventor： Jozef Gecz , Petter Stromme
CPC classification number: C12Q1/6883 , C07K14/47
Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.
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公开(公告)号：US11473143B2
公开(公告)日：2022-10-18
申请号：US15663629
申请日：2017-07-28
Applicant: ITEK VENTURES PTY LTD , The University of Melbourne , Central Adelaide Local Health Network Incorporated
Inventor： Sarah Elizabeth Heron , Leanne Michelle Dibbens , Samuel Frank Berkovic , Ingrid Eileen Scheffer , John Charles Mulley
IPC: C12Q1/68 , C12P19/34 , C12Q1/6883 , C07K14/705 , C07K14/47 , C07K16/18 , G01N27/447
Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.
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公开(公告)号：US20210317218A1
公开(公告)日：2021-10-14
申请号：US17150789
申请日：2021-01-15
Inventor： Angel LOPEZ , Paul FOSTER
IPC: C07K16/28 , A61K45/06 , A61K31/00 , A61K31/57 , A61K39/395
Abstract: A method of reducing IL-4 and/or IL-13 levels in the lung of a mammal with elevated levels thereof, includes the step of administering to the mammal an effective amount of a βc receptor blocker capable of blocking the binding of all three of IL-3, IL-5 and GM-CSF to the βc common chain to thereby reduce the IL-4 and/or IL-13 levels.
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5.发明申请公开(公告)号：US20180155435A1
公开(公告)日：2018-06-07
申请号：US15661652
申请日：2017-07-27
Inventor： Angel LOPEZ , Paul Foster
IPC: C07K16/28 , A61K39/395 , A61K45/06
CPC classification number: C07K16/2866 , A61K31/00 , A61K31/57 , A61K39/3955 , A61K45/06
Abstract: A method of reducing IL-4 and/or IL-13 levels in the lung of a mammal with elevated levels thereof, includes the step of administering to the mammal an effective amount of a βc receptor blocker capable of blocking the binding of all three of IL-3, IL-5 and GM-CSF to the βc common chain to thereby reduce the IL-4 and/or IL-13 levels.
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Patent Agency Ranking
公开(公告)号：US20130340101A1
公开(公告)日：2013-12-19
申请号：US13690405
申请日：2012-11-30
Inventor： Jozef Gecz , Petter Stromme
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C07K14/47
Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.
Abstract translation: 包含SEQ ID NO：1所示的核苷酸序列的分离的核酸分子。
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7.发明申请公开(公告)号：US20200055943A1
公开(公告)日：2020-02-20
申请号：US16362581
申请日：2019-03-22
Inventor： Angel LOPEZ , Paul FOSTER
IPC: C07K16/28 , A61K39/395 , A61K31/57 , A61K31/00 , A61K45/06
Abstract: A method of reducing IL-4 and/or IL-13 levels in the lung of a mammal with elevated levels thereof, includes the step of administering to the mammal an effective amount of a βc receptor blocker capable of blocking the binding of all three of IL-3, IL-5 and GM-CSF to the βc common chain to thereby reduce the IL-4 and/or IL-13 levels.
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公开(公告)号：US20180030536A1
公开(公告)日：2018-02-01
申请号：US15663629
申请日：2017-07-28
Applicant: ITEK VENTURES PTY LTD , The University of Melbourne , Central Adelaide Local Health Network Incorporated
Inventor： Sarah Elizabeth HERON , Leanne Michelle Dibbens , Samuel Frank Berkovic , Ingrid Elleen Scheffer , John Charles Mulley
IPC: C12Q1/68 , C07K14/705 , C07K16/18 , G01N27/447 , C07K14/47
CPC classification number: C12Q1/6883 , C07K14/47 , C07K14/705 , C07K16/18 , C12Q2600/118 , C12Q2600/136 , C12Q2600/156 , G01N27/447
Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.
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公开(公告)号：US20170253929A1
公开(公告)日：2017-09-07
申请号：US15463481
申请日：2017-03-20
Inventor： Jozef Gecz , Petter Stromme
Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.
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10.发明公开公开(公告)号：US20240076393A1
公开(公告)日：2024-03-07
申请号：US18449598
申请日：2023-08-14
Inventor： Angel LOPEZ , Paul FOSTER
IPC: C07K16/28 , A61K31/00 , A61K31/57 , A61K39/395 , A61K45/06
CPC classification number: C07K16/2866 , A61K31/00 , A61K31/57 , A61K39/3955 , A61K45/06
Abstract: A method of reducing IL-4 and/or IL-13 levels in the lung of a mammal with elevated levels thereof, includes the step of administering to the mammal an effective amount of a βc receptor blocker capable of blocking the binding of all three of IL-3, IL-5 and GM-CSF to the βc common chain to thereby reduce the IL-4 and/or IL-13 levels.
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