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GB2546719B - Modulation of gene expression and screening for deregulated protein expression - Google Patents

Modulation of gene expression and screening for deregulated protein expression Download PDF

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Publication number
GB2546719B
GB2546719B GB1517937.7A GB201517937A GB2546719B GB 2546719 B GB2546719 B GB 2546719B GB 201517937 A GB201517937 A GB 201517937A GB 2546719 B GB2546719 B GB 2546719B
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United Kingdom
Prior art keywords
screening
modulation
expression
gene expression
deregulated protein
Prior art date
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.)
Active
Application number
GB1517937.7A
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GB2546719A (en
GB201517937D0 (en
Inventor
Vorechovsky Igor
Kralovicova Jana
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
University of Southampton
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University of Southampton
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by University of Southampton filed Critical University of Southampton
Priority to GB2103433.5A priority Critical patent/GB2591194B/en
Priority to GB1517937.7A priority patent/GB2546719B/en
Publication of GB201517937D0 publication Critical patent/GB201517937D0/en
Priority to CN201680072628.XA priority patent/CN108603230A/en
Priority to KR1020187012992A priority patent/KR102422625B1/en
Priority to PCT/GB2016/053136 priority patent/WO2017060731A1/en
Priority to SG11201802870RA priority patent/SG11201802870RA/en
Priority to EP16781187.6A priority patent/EP3359685A1/en
Priority to CA3000971A priority patent/CA3000971A1/en
Priority to KR1020227024328A priority patent/KR20220105174A/en
Priority to US15/288,415 priority patent/US10196639B2/en
Priority to JP2018518426A priority patent/JP6923517B2/en
Priority to AU2016334804A priority patent/AU2016334804B2/en
Priority to IL308174A priority patent/IL308174A/en
Publication of GB2546719A publication Critical patent/GB2546719A/en
Priority to IL258528A priority patent/IL258528A/en
Priority to US16/213,535 priority patent/US10941405B2/en
Priority to US17/159,881 priority patent/US11702660B2/en
Application granted granted Critical
Publication of GB2546719B publication Critical patent/GB2546719B/en
Priority to JP2021123345A priority patent/JP2021180669A/en
Priority to AU2022204606A priority patent/AU2022204606B2/en
Priority to US18/299,509 priority patent/US20230416756A1/en
Priority to JP2023171631A priority patent/JP2024009853A/en
Active legal-status Critical Current
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • C—CHEMISTRY; METALLURGY
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    • 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
    • C—CHEMISTRY; METALLURGY
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    • 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
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • 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
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/33—Chemical structure of the base
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    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Epidemiology (AREA)
  • Plant Pathology (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
GB1517937.7A 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression Active GB2546719B (en)

Priority Applications (20)

Application Number Priority Date Filing Date Title
GB2103433.5A GB2591194B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression
GB1517937.7A GB2546719B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression
US15/288,415 US10196639B2 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
IL308174A IL308174A (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
KR1020187012992A KR102422625B1 (en) 2015-10-09 2016-10-07 Regulation of gene expression and screening of deregulated protein expression
PCT/GB2016/053136 WO2017060731A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
SG11201802870RA SG11201802870RA (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
EP16781187.6A EP3359685A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
CA3000971A CA3000971A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
KR1020227024328A KR20220105174A (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
CN201680072628.XA CN108603230A (en) 2015-10-09 2016-10-07 The screening of the adjusting of gene expression and protein expression imbalance
JP2018518426A JP6923517B2 (en) 2015-10-09 2016-10-07 Screening for regulatory and deregulated protein expression of gene expression
AU2016334804A AU2016334804B2 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
IL258528A IL258528A (en) 2015-10-09 2018-04-08 Modulation of gene expression and screening for deregulated protein expression
US16/213,535 US10941405B2 (en) 2015-10-09 2018-12-07 Modulation of gene expression and screening for deregulated protein expression
US17/159,881 US11702660B2 (en) 2015-10-09 2021-01-27 Modulation of gene expression and screening for deregulated protein expression
JP2021123345A JP2021180669A (en) 2015-10-09 2021-07-28 Screening for regulatory and deregulated protein expression of gene expression
AU2022204606A AU2022204606B2 (en) 2015-10-09 2022-06-29 Modulation of gene expression and screening for deregulated protein expression
US18/299,509 US20230416756A1 (en) 2015-10-09 2023-04-12 Modulation of gene expression and screening for deregulated protein expression
JP2023171631A JP2024009853A (en) 2015-10-09 2023-10-02 Regulation of gene expression and screening for deregulated protein expression

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
GB1517937.7A GB2546719B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression

Publications (3)

Publication Number Publication Date
GB201517937D0 GB201517937D0 (en) 2015-11-25
GB2546719A GB2546719A (en) 2017-08-02
GB2546719B true GB2546719B (en) 2021-07-14

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GB2103433.5A Active GB2591194B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression
GB1517937.7A Active GB2546719B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression

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Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
JP6867945B2 (en) 2014-10-03 2021-05-12 コールド スプリング ハーバー ラボラトリー Targeted enhancement of nuclear gene output
IL308174A (en) 2015-10-09 2024-01-01 Univ Southampton Modulation of gene expression and screening for deregulated protein expression
GB2559100A (en) * 2016-08-31 2018-08-01 Univ Southampton Modulation of gene expression and screening for deregulated protein expression
KR102604132B1 (en) 2015-12-14 2023-11-17 콜드스프링하버러보러토리 Antisense oligomers for the treatment of autosomal dominant mental retardation 5 and Dravet syndrome
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
CN114645048A (en) 2017-08-25 2022-06-21 斯托克制药公司 Antisense oligomers for the treatment of conditions and diseases
WO2019213525A1 (en) 2018-05-04 2019-11-07 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
CN115867657A (en) 2020-05-11 2023-03-28 斯托克制药公司 OPA1 antisense oligomers for the treatment of disorders and diseases

Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997047772A2 (en) * 1996-06-13 1997-12-18 The Regents Of The University Of California Ataxia-telangiectasia: mutations in the atm gene
WO1998022621A1 (en) * 1996-11-20 1998-05-28 Virginia Mason Research Center Detection of mutations in the human atm gene
WO1998025125A2 (en) * 1996-12-03 1998-06-11 Swift Michael R Predisposition to breast cancer by mutations at the ataxia-telangiectasia genetic locus
WO2001007660A1 (en) * 1999-07-23 2001-02-01 The Regents Of The University Of California Methods for detection of ataxia telangiectasia mutations
US20090270270A1 (en) * 2008-04-28 2009-10-29 Centre Rene Huguenin Method for detecting intragenic large rearrangements
WO2009151698A1 (en) * 2008-03-14 2009-12-17 The Regents Of The University Of California Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes
WO2016055829A1 (en) * 2014-10-06 2016-04-14 Mehdipour Parvin Predisposing, preventive, predictive cancer marker kit (3pcm)

Patent Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997047772A2 (en) * 1996-06-13 1997-12-18 The Regents Of The University Of California Ataxia-telangiectasia: mutations in the atm gene
WO1998022621A1 (en) * 1996-11-20 1998-05-28 Virginia Mason Research Center Detection of mutations in the human atm gene
WO1998025125A2 (en) * 1996-12-03 1998-06-11 Swift Michael R Predisposition to breast cancer by mutations at the ataxia-telangiectasia genetic locus
WO2001007660A1 (en) * 1999-07-23 2001-02-01 The Regents Of The University Of California Methods for detection of ataxia telangiectasia mutations
WO2009151698A1 (en) * 2008-03-14 2009-12-17 The Regents Of The University Of California Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes
US20090270270A1 (en) * 2008-04-28 2009-10-29 Centre Rene Huguenin Method for detecting intragenic large rearrangements
WO2016055829A1 (en) * 2014-10-06 2016-04-14 Mehdipour Parvin Predisposing, preventive, predictive cancer marker kit (3pcm)

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
LUNG CANCER, Vol 69, 2010, Y Lo et al, "ATM polymorphisms and risk of lung cancer among never smokers", pages 148 - 154, *
Nature Scientific Reports, Vol 6, 2016, J Kralovicova et al, "Exon-centric regulation of ATM expression is population ..." 18741 *
Proc Natl Acad Sci USA, Vol 104, 2007, L Du et al, "Correction or prototypic ATM splicing mutations and aberrant ATM ...", 6007-6012 *

Also Published As

Publication number Publication date
GB202103433D0 (en) 2021-04-28
GB2591194A (en) 2021-07-21
GB2546719A (en) 2017-08-02
GB2591194B (en) 2021-10-13
GB201517937D0 (en) 2015-11-25

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