KR102551638B1 - 굴절 이상에 대한 소인의 예측 방법 및 시약 - Google Patents

굴절 이상에 대한 소인의 예측 방법 및 시약 Download PDF

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KR102551638B1
KR102551638B1 KR1020177025942A KR20177025942A KR102551638B1 KR 102551638 B1 KR102551638 B1 KR 102551638B1 KR 1020177025942 A KR1020177025942 A KR 1020177025942A KR 20177025942 A KR20177025942 A KR 20177025942A KR 102551638 B1 KR102551638 B1 KR 102551638B1
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exon
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KR20170122212A (ko
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제이 니츠
모린 니츠
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유니버시티 오브 워싱톤
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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
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B5/00—Measuring for diagnostic purposes; Identification of persons
    • 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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • 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

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  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
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KR1020177025942A 2015-02-27 2016-02-29 굴절 이상에 대한 소인의 예측 방법 및 시약 Active KR102551638B1 (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201562126284P 2015-02-27 2015-02-27
US62/126,284 2015-02-27
PCT/US2016/020033 WO2016138512A1 (en) 2015-02-27 2016-02-29 Methods and reagents for predicting predisposition to refractive error

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KR20170122212A KR20170122212A (ko) 2017-11-03
KR102551638B1 true KR102551638B1 (ko) 2023-07-05

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US (1) US10787707B2 (enExample)
EP (1) EP3261525B1 (enExample)
JP (1) JP7240097B2 (enExample)
KR (1) KR102551638B1 (enExample)
CN (1) CN107529987B (enExample)
AU (1) AU2016225033B2 (enExample)
CA (1) CA2977808A1 (enExample)
SG (2) SG11201706933TA (enExample)
WO (1) WO2016138512A1 (enExample)

Families Citing this family (6)

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Publication number Priority date Publication date Assignee Title
SG11201900867UA (en) 2016-08-01 2019-02-27 Jay Neitz Ophthalmic lenses for treating myopia
EP3625620B1 (en) 2017-05-08 2025-09-10 SIGHTGLASS VISION, Inc. Methods for making contact lenses for reducing myopia
US10884264B2 (en) 2018-01-30 2021-01-05 Sightglass Vision, Inc. Ophthalmic lenses with light scattering for treating myopia
CA3200410A1 (en) 2018-07-12 2020-01-16 Sightglass Vision, Inc. Methods and devices for reducing myopia in children
CN119738978A (zh) 2019-03-01 2025-04-01 视窗视觉公司 用于降低近视加深的眼科镜片及制造该眼科镜片的方法
TWI889677B (zh) 2019-04-23 2025-07-11 美商賽特眼鏡視光有限公司 用於減少近視發展之具有動態光學性質之鏡片及相關之系統及方法

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5800992A (en) 1989-06-07 1998-09-01 Fodor; Stephen P.A. Method of detecting nucleic acids
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
US6706867B1 (en) 2000-12-19 2004-03-16 The United States Of America As Represented By The Department Of Health And Human Services DNA array sequence selection
EP1256632A3 (en) 2001-05-07 2004-01-02 Smithkline Beecham Corporation High throughput polymorphism screening
US20040110179A1 (en) 2002-03-15 2004-06-10 Shuber Anthony P. Method for alteration detection
EP1361596B1 (en) 2002-05-09 2005-06-08 Matsushita Electric Industrial Co., Ltd. In-line type electron gun and color picture tube apparatus using the same
US20050208555A1 (en) 2004-03-16 2005-09-22 Affymetrix, Inc. Methods of genotyping
ITRM20050325A1 (it) 2005-06-23 2006-12-24 Univ Roma Isoforma di splicing alternativo del gene codificante per la proteina lox-1, usi e metodi relativi.
US7906289B2 (en) 2008-07-28 2011-03-15 Kaohsiung Medical University Using genetic polymorphisms of the BICD1 gene as a method for diagnosing and treating myopia
EP3298994B1 (en) 2008-12-22 2019-05-29 Medical College of Wisconsin, Inc. Apparatus for limiting growth of eye length
US20120172419A1 (en) 2009-09-15 2012-07-05 Medical College Of Wisconsin Research Foundation Inc. Reagents and methods for modulating cone photoreceptor activity
JP5901046B2 (ja) 2010-02-19 2016-04-06 国立大学法人 千葉大学 ＯＡＴＰ１Ｂ３ｍＲＮＡの新規な選択的スプライシングバリアント
RU2013137831A (ru) 2011-01-14 2015-02-20 Юниверсити Оф Вашингтон Тру Итс Сентер Фор Коммершлайзейшн Способы диагностирования и лечения связанных с длиной глаза нарушений
EP2678686B1 (en) 2011-02-24 2017-10-11 Massachusetts Institute of Technology ALTERNATIVELY SPLICED mRNA ISOFORMS AS PROGNOSTIC INDICATORS FOR METASTATIC CANCER

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
논문, "Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants
논문, "Variations in Opsin Coding Sequences Cause X-Linked Cone Dysfunction Syndrome with Myopia and Dichromacy"

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Publication number Publication date
EP3261525A4 (en) 2018-07-18
EP3261525B1 (en) 2021-09-29
WO2016138512A1 (en) 2016-09-01
US20180112268A1 (en) 2018-04-26
US10787707B2 (en) 2020-09-29
JP2018512121A (ja) 2018-05-17
SG10202102575SA (en) 2021-04-29
CA2977808A1 (en) 2016-09-01
SG11201706933TA (en) 2017-09-28
CN107529987B (zh) 2021-04-20
AU2016225033B2 (en) 2021-11-11
AU2016225033A1 (en) 2017-10-12
CN107529987A (zh) 2018-01-02
HK1248498A1 (zh) 2018-10-19
JP7240097B2 (ja) 2023-03-15
EP3261525A1 (en) 2018-01-03
KR20170122212A (ko) 2017-11-03

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