JP7231226B2 - 顔面肩甲上腕型筋ジストロフィーのための治療標的 - Google Patents
顔面肩甲上腕型筋ジストロフィーのための治療標的 Download PDFInfo
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- JP7231226B2 JP7231226B2 JP2019523836A JP2019523836A JP7231226B2 JP 7231226 B2 JP7231226 B2 JP 7231226B2 JP 2019523836 A JP2019523836 A JP 2019523836A JP 2019523836 A JP2019523836 A JP 2019523836A JP 7231226 B2 JP7231226 B2 JP 7231226B2
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- dux4
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- C—CHEMISTRY; METALLURGY
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- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
- C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/55—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having seven-membered rings, e.g. azelastine, pentylenetetrazole
- A61K31/551—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having seven-membered rings, e.g. azelastine, pentylenetetrazole having two nitrogen atoms, e.g. dilazep
- A61K31/5513—1,4-Benzodiazepines, e.g. diazepam or clozapine
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7088—Compounds having three or more nucleosides or nucleotides
- A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7088—Compounds having three or more nucleosides or nucleotides
- A61K31/713—Double-stranded nucleic acids or oligonucleotides
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
- A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P21/00—Drugs for disorders of the muscular or neuromuscular system
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/87—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation
- C12N15/90—Stable introduction of foreign DNA into chromosome
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/5044—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics involving specific cell types
- G01N33/5061—Muscle cells
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/10—Type of nucleic acid
- C12N2310/11—Antisense
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/10—Type of nucleic acid
- C12N2310/14—Type of nucleic acid interfering nucleic acids [NA]
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/10—Type of nucleic acid
- C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N2740/00—Reverse transcribing RNA viruses
- C12N2740/00011—Details
- C12N2740/10011—Retroviridae
- C12N2740/16011—Human Immunodeficiency Virus, HIV
- C12N2740/16041—Use of virus, viral particle or viral elements as a vector
- C12N2740/16043—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
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- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Biomedical Technology (AREA)
- General Health & Medical Sciences (AREA)
- Biochemistry (AREA)
- Biotechnology (AREA)
- Medicinal Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Organic Chemistry (AREA)
- General Engineering & Computer Science (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Epidemiology (AREA)
- Physics & Mathematics (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Cell Biology (AREA)
- Biophysics (AREA)
- Plant Pathology (AREA)
- Food Science & Technology (AREA)
- Analytical Chemistry (AREA)
- General Physics & Mathematics (AREA)
- Pathology (AREA)
- Mycology (AREA)
- Tropical Medicine & Parasitology (AREA)
- Toxicology (AREA)
- Physical Education & Sports Medicine (AREA)
- Orthopedic Medicine & Surgery (AREA)
- Neurology (AREA)
- General Chemical & Material Sciences (AREA)
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2023018459A JP2023071691A (ja) | 2016-11-07 | 2023-02-09 | 顔面肩甲上腕型筋ジストロフィーのための治療標的 |
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201662418694P | 2016-11-07 | 2016-11-07 | |
| US62/418,694 | 2016-11-07 | ||
| US201762490783P | 2017-04-27 | 2017-04-27 | |
| US62/490,783 | 2017-04-27 | ||
| PCT/US2017/060410 WO2018085842A1 (en) | 2016-11-07 | 2017-11-07 | Therapeutic targets for facioscapulohumeral muscular dystrophy |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023018459A Division JP2023071691A (ja) | 2016-11-07 | 2023-02-09 | 顔面肩甲上腕型筋ジストロフィーのための治療標的 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2019534298A JP2019534298A (ja) | 2019-11-28 |
| JP2019534298A5 JP2019534298A5 (https=) | 2020-12-17 |
| JP7231226B2 true JP7231226B2 (ja) | 2023-03-01 |
Family
ID=62076463
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019523836A Active JP7231226B2 (ja) | 2016-11-07 | 2017-11-07 | 顔面肩甲上腕型筋ジストロフィーのための治療標的 |
| JP2023018459A Pending JP2023071691A (ja) | 2016-11-07 | 2023-02-09 | 顔面肩甲上腕型筋ジストロフィーのための治療標的 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023018459A Pending JP2023071691A (ja) | 2016-11-07 | 2023-02-09 | 顔面肩甲上腕型筋ジストロフィーのための治療標的 |
Country Status (6)
| Country | Link |
|---|---|
| US (3) | US11160823B2 (https=) |
| EP (2) | EP3896451B1 (https=) |
| JP (2) | JP7231226B2 (https=) |
| AU (1) | AU2017355712B2 (https=) |
| CA (1) | CA3042700A1 (https=) |
| WO (1) | WO2018085842A1 (https=) |
Families Citing this family (19)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9228207B2 (en) | 2013-09-06 | 2016-01-05 | President And Fellows Of Harvard College | Switchable gRNAs comprising aptamers |
| US11160823B2 (en) | 2016-11-07 | 2021-11-02 | University Of Massachusetts | Therapeutic targets for facioscapulohumeral muscular dystrophy |
| EP3592853A1 (en) | 2017-03-09 | 2020-01-15 | President and Fellows of Harvard College | Suppression of pain by gene editing |
| US12390514B2 (en) | 2017-03-09 | 2025-08-19 | President And Fellows Of Harvard College | Cancer vaccine |
| CN111801345A (zh) | 2017-07-28 | 2020-10-20 | 哈佛大学的校长及成员们 | 使用噬菌体辅助连续进化(pace)的进化碱基编辑器的方法和组合物 |
| WO2019060432A2 (en) * | 2017-09-19 | 2019-03-28 | Children's National Medical Center | GAPMERS AND METHODS OF USING THE SAME FOR THE TREATMENT OF MUSCLE DYSTROPHY |
| KR102922694B1 (ko) | 2018-04-19 | 2026-02-03 | 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 | 유전자 편집을 위한 조성물 및 방법 |
| US12522807B2 (en) | 2018-07-09 | 2026-01-13 | The Broad Institute, Inc. | RNA programmable epigenetic RNA modifiers and uses thereof |
| EP3906308A1 (en) * | 2018-12-31 | 2021-11-10 | Research Institute at Nationwide Children's Hospital | Dux4 rna silencing using rna targeting crispr-cas13b |
| US12351837B2 (en) | 2019-01-23 | 2025-07-08 | The Broad Institute, Inc. | Supernegatively charged proteins and uses thereof |
| WO2020191233A1 (en) | 2019-03-19 | 2020-09-24 | The Broad Institute, Inc. | Methods and compositions for editing nucleotide sequences |
| US12473543B2 (en) | 2019-04-17 | 2025-11-18 | The Broad Institute, Inc. | Adenine base editors with reduced off-target effects |
| WO2020252455A1 (en) * | 2019-06-13 | 2020-12-17 | The General Hospital Corporation | Engineered human-endogenous virus-like particles and methods of use thereof for delivery to cells |
| AU2021257213A1 (en) * | 2020-04-17 | 2022-11-03 | Nevada Research & Innovation Corporation | CRISPR-inhibition for facioscapulohumeral muscular dystrophy |
| CA3189601A1 (en) | 2020-07-24 | 2022-01-27 | The General Hospital Corporation | Enhanced virus-like particles and methods of use thereof for delivery to cells |
| WO2022045366A1 (en) * | 2020-08-31 | 2022-03-03 | Modalis Therapeutics Corporation | Method for treating facioscapulohumeral muscular dystrophy (fshd) by targeting dux4 gene |
| JP2022055361A (ja) * | 2020-09-28 | 2022-04-07 | 田辺三菱製薬株式会社 | Dux4の発現を調節するための医薬組成物 |
| CN120092093A (zh) * | 2022-08-25 | 2025-06-03 | 富士胶片株式会社 | 靶病毒的制造方法及培养组合物 |
| CN115896223A (zh) * | 2022-10-19 | 2023-04-04 | 中国医学科学院基础医学研究所 | 一种表观调节因子dot1l在肌肉分化中的应用 |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20150087636A1 (en) | 2013-09-20 | 2015-03-26 | Saint Louis University | Inhibition of DUX4 Expression Using Bromodomain and Extra-Terminal Domain Protein Inhibitors (BETi) |
Family Cites Families (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US3854480A (en) | 1969-04-01 | 1974-12-17 | Alza Corp | Drug-delivery system |
| US4675189A (en) | 1980-11-18 | 1987-06-23 | Syntex (U.S.A.) Inc. | Microencapsulation of water soluble active polypeptides |
| US4452775A (en) | 1982-12-03 | 1984-06-05 | Syntex (U.S.A.) Inc. | Cholesterol matrix delivery system for sustained release of macromolecules |
| US5075109A (en) | 1986-10-24 | 1991-12-24 | Southern Research Institute | Method of potentiating an immune response |
| US5133974A (en) | 1989-05-05 | 1992-07-28 | Kv Pharmaceutical Company | Extended release pharmaceutical formulations |
| US5407686A (en) | 1991-11-27 | 1995-04-18 | Sidmak Laboratories, Inc. | Sustained release composition for oral administration of active ingredient |
| US6291438B1 (en) | 1993-02-24 | 2001-09-18 | Jui H. Wang | Antiviral anticancer poly-substituted phenyl derivatized oligoribonucleotides and methods for their use |
| US5858988A (en) | 1993-02-24 | 1999-01-12 | Wang; Jui H. | Poly-substituted-phenyl-oligoribo nucleotides having enhanced stability and membrane permeability and methods of use |
| US5736152A (en) | 1995-10-27 | 1998-04-07 | Atrix Laboratories, Inc. | Non-polymeric sustained release delivery system |
| US5684143A (en) | 1996-02-21 | 1997-11-04 | Lynx Therapeutics, Inc. | Oligo-2'-fluoronucleotide N3'->P5' phosphoramidates |
| WO2014071340A1 (en) * | 2012-11-05 | 2014-05-08 | University Of Washington Through Its Center For Commercialization | Methods and assays for facioscapulohumeral muscular dystrophy |
| WO2014144455A1 (en) | 2013-03-15 | 2014-09-18 | Epizyme, Inc. | 1 -phenoxy-3-(alkylamino)-propan-2-ol derivatives as carm1 inhibitors and uses thereof |
| CA2903813C (en) | 2013-03-15 | 2023-08-29 | Epizyme, Inc. | Carm1 inhibitors and uses thereof |
| US20170283440A1 (en) | 2014-09-17 | 2017-10-05 | Epizyme, Inc. | Carm1 inhibitors and uses thereof |
| WO2016044604A1 (en) | 2014-09-17 | 2016-03-24 | Epizyme, Inc. | Carm1 inhibitors and uses thereof |
| WO2016044641A2 (en) | 2014-09-17 | 2016-03-24 | Epizyme, Inc. | Carm1 inhibitors and uses thereof |
| US10538763B2 (en) | 2015-01-16 | 2020-01-21 | Ionis Pharmaceuticals, Inc. | Compounds and methods for modulation of DUX4 |
| ES2926785T3 (es) * | 2015-06-02 | 2022-10-28 | Academisch Ziekenhuis Leiden | Medios y métodos para el tratamiento de la distrofia muscular facioescapulohumeral (FSHD) |
| WO2017201585A1 (en) | 2016-05-26 | 2017-11-30 | Genea Ip Holdings Pty Ltd | Modulators of dux4 for regulation of muscle function |
| EP3515506B1 (en) * | 2016-09-23 | 2023-09-13 | University of Massachusetts | Silencing of dux4 by recombinant gene editing complexes |
| US11160823B2 (en) | 2016-11-07 | 2021-11-02 | University Of Massachusetts | Therapeutic targets for facioscapulohumeral muscular dystrophy |
-
2017
- 2017-11-07 US US16/347,688 patent/US11160823B2/en active Active
- 2017-11-07 AU AU2017355712A patent/AU2017355712B2/en not_active Ceased
- 2017-11-07 JP JP2019523836A patent/JP7231226B2/ja active Active
- 2017-11-07 WO PCT/US2017/060410 patent/WO2018085842A1/en not_active Ceased
- 2017-11-07 EP EP21161592.7A patent/EP3896451B1/en active Active
- 2017-11-07 EP EP17867141.8A patent/EP3535588A4/en not_active Withdrawn
- 2017-11-07 CA CA3042700A patent/CA3042700A1/en active Pending
-
2021
- 2021-09-30 US US17/489,983 patent/US11963975B2/en active Active
-
2022
- 2022-04-06 US US17/714,349 patent/US20220226364A1/en not_active Abandoned
-
2023
- 2023-02-09 JP JP2023018459A patent/JP2023071691A/ja active Pending
Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20150087636A1 (en) | 2013-09-20 | 2015-03-26 | Saint Louis University | Inhibition of DUX4 Expression Using Bromodomain and Extra-Terminal Domain Protein Inhibitors (BETi) |
Non-Patent Citations (1)
| Title |
|---|
| 上原記念生命科学財団研究報告集, (2018), 32, Report.159, <https://www.ueharazaidan.or.jp/houkokushu/Vol.32/pdf/report/159_report.pdf> |
Also Published As
| Publication number | Publication date |
|---|---|
| EP3896451B1 (en) | 2024-06-26 |
| JP2019534298A (ja) | 2019-11-28 |
| CA3042700A1 (en) | 2018-05-11 |
| EP3535588A1 (en) | 2019-09-11 |
| EP3896451A1 (en) | 2021-10-20 |
| US20220152083A1 (en) | 2022-05-19 |
| US20220226364A1 (en) | 2022-07-21 |
| AU2017355712A1 (en) | 2019-05-16 |
| WO2018085842A1 (en) | 2018-05-11 |
| AU2017355712B2 (en) | 2024-01-11 |
| JP2023071691A (ja) | 2023-05-23 |
| US11963975B2 (en) | 2024-04-23 |
| EP3535588A4 (en) | 2020-09-16 |
| US20190343865A1 (en) | 2019-11-14 |
| US11160823B2 (en) | 2021-11-02 |
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