KR102602627B1 - 원추 각막과 관련된 대립 유전자의 검출 방법 - Google Patents

원추 각막과 관련된 대립 유전자의 검출 방법 Download PDF

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KR102602627B1
KR102602627B1 KR1020197034634A KR20197034634A KR102602627B1 KR 102602627 B1 KR102602627 B1 KR 102602627B1 KR 1020197034634 A KR1020197034634 A KR 1020197034634A KR 20197034634 A KR20197034634 A KR 20197034634A KR 102602627 B1 KR102602627 B1 KR 102602627B1
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variants
genetic
dna
genetic variants
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KR20200017392A (ko
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래리 데디오니시오
타라 무어
앤드류 네스빗
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아벨리노 랩 유에스에이, 인크.
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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
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • 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
    • 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
    • C12Q2600/118—Prognosis of disease development
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/16—Ophthalmology
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Ophthalmology & Optometry (AREA)
  • General Chemical & Material Sciences (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Materials For Medical Uses (AREA)
KR1020197034634A 2017-04-28 2018-04-27 원추 각막과 관련된 대립 유전자의 검출 방법 Active KR102602627B1 (ko)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201762492060P 2017-04-28 2017-04-28
US62/492,060 2017-04-28
US201762570620P 2017-10-10 2017-10-10
US62/570,620 2017-10-10
PCT/US2018/029836 WO2018200980A1 (en) 2017-04-28 2018-04-27 Methods for detecting alleles associated with keratoconus

Publications (2)

Publication Number Publication Date
KR20200017392A KR20200017392A (ko) 2020-02-18
KR102602627B1 true KR102602627B1 (ko) 2023-11-16

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US (1) US20200190587A1 (enExample)
EP (1) EP3628056A4 (enExample)
JP (2) JP7244437B2 (enExample)
KR (1) KR102602627B1 (enExample)
CN (1) CN110997940A (enExample)
AU (1) AU2018258580A1 (enExample)
CA (1) CA3061620A1 (enExample)
WO (1) WO2018200980A1 (enExample)

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Publication number Priority date Publication date Assignee Title
EP4036228A1 (en) 2015-11-13 2022-08-03 Avellino Lab USA, Inc. Methods for the treatment of corneal dystrophies
JP7097850B2 (ja) * 2019-04-23 2022-07-08 ジェネシスヘルスケア株式会社 遠視のリスクを判定する方法
JP7097851B2 (ja) * 2019-04-23 2022-07-08 ジェネシスヘルスケア株式会社 乱視のリスクを判定する方法
EP4355338A4 (en) * 2021-06-18 2025-12-24 Ionis Pharmaceuticals Inc COMPOUNDS AND METHODS FOR REDUCING THE EXPRESSION OF IFNAR1
WO2023004189A1 (en) * 2021-07-23 2023-01-26 Avellino Lab Usa, Inc. Method for detecting alleles associated with keratoconus

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5210015A (en) 1990-08-06 1993-05-11 Hoffman-La Roche Inc. Homogeneous assay system using the nuclease activity of a nucleic acid polymerase
US5925517A (en) 1993-11-12 1999-07-20 The Public Health Research Institute Of The City Of New York, Inc. Detectably labeled dual conformation oligonucleotide probes, assays and kits
DE69739357D1 (de) 1996-06-04 2009-05-28 Univ Utah Res Found Überwachung der hybridisierung während pcr
US6117635A (en) 1996-07-16 2000-09-12 Intergen Company Nucleic acid amplification oligonucleotides with molecular energy transfer labels and methods based thereon
GB9812768D0 (en) 1998-06-13 1998-08-12 Zeneca Ltd Methods
US6270970B1 (en) 1999-05-14 2001-08-07 Promega Corporation Mixed-bed solid phase and its use in the isolation of nucleic acids
KR20130027281A (ko) * 2011-09-07 2013-03-15 (주)에스엘에스 원추각막 검사 방법 및 키트
SG11201701693RA (en) * 2014-09-05 2017-04-27 Univ Osaka Corneal endothelial cell marker
CN105256059B (zh) * 2015-11-20 2019-01-18 山东省眼科研究所 Tuba3d基因在制备圆锥角膜诊断制品中的应用
CN106282383B (zh) 2016-10-08 2019-05-31 山东省眼科研究所 Krt12基因在检测圆锥角膜中的应用

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
Biomed Res Int,2015:795738. (2015.05.17.)
Eye (Lond),28(2):189-95. (2013.12.20.)
J Ophthalmol,2014:641708. (2014.08.28.)*

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Publication number Publication date
JP2023085286A (ja) 2023-06-20
WO2018200980A1 (en) 2018-11-01
CA3061620A1 (en) 2018-11-01
KR20200017392A (ko) 2020-02-18
EP3628056A1 (en) 2020-04-01
JP2020517296A (ja) 2020-06-18
EP3628056A4 (en) 2021-03-03
CN110997940A (zh) 2020-04-10
AU2018258580A1 (en) 2019-11-21
JP7244437B2 (ja) 2023-03-22
US20200190587A1 (en) 2020-06-18

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