CA3081362C - Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 - Google Patents

Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 Download PDF

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Publication number
CA3081362C
CA3081362C CA3081362A CA3081362A CA3081362C CA 3081362 C CA3081362 C CA 3081362C CA 3081362 A CA3081362 A CA 3081362A CA 3081362 A CA3081362 A CA 3081362A CA 3081362 C CA3081362 C CA 3081362C
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Prior art keywords
seq
pkd
pkd1
gene
adpkd
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CA3081362A
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English (en)
French (fr)
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CA3081362A1 (en
Inventor
Terry J. Watnick
Miguel Garcia-Gonzalez
Gregory G. Germino
Jeffrey G. Jones
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Johns Hopkins University
Athena Diagnostics Inc
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Johns Hopkins University
Athena Diagnostics Inc
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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CA3081362A 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1 Active CA3081362C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US83278006P 2006-07-24 2006-07-24
US60/832,780 2006-07-24
CA2993381A CA2993381C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2993381A Division CA2993381C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Publications (2)

Publication Number Publication Date
CA3081362A1 CA3081362A1 (en) 2008-08-07
CA3081362C true CA3081362C (en) 2024-04-09

Family

ID=39674638

Family Applications (3)

Application Number Title Priority Date Filing Date
CA3081362A Active CA3081362C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA2993381A Active CA2993381C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA2658421A Active CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Family Applications After (2)

Application Number Title Priority Date Filing Date
CA2993381A Active CA2993381C (en) 2006-07-24 2007-07-24 Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
CA2658421A Active CA2658421C (en) 2006-07-24 2007-07-24 Pkd mutations and evaluation of same

Country Status (4)

Country Link
US (4) US8771946B2 (cg-RX-API-DMAC7.html)
JP (1) JP2009544314A (cg-RX-API-DMAC7.html)
CA (3) CA3081362C (cg-RX-API-DMAC7.html)
WO (1) WO2008094194A2 (cg-RX-API-DMAC7.html)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3081362C (en) 2006-07-24 2024-04-09 Athena Diagnostics, Inc. Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
CN107109411B (zh) 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
KR20170081266A (ko) * 2014-11-19 2017-07-11 오츠카 세이야쿠 가부시키가이샤 Pkd1 유전자 및 pkd2 유전자의 엑손을 증폭시키기 위한 프라이머 세트 및 방법
KR102422625B1 (ko) 2015-10-09 2022-07-20 유니버시티 오브 사우스앰톤 유전자 발현의 조절 및 탈조절된 단백질 발현의 스크리닝
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
KR102604132B1 (ko) 2015-12-14 2023-11-17 콜드스프링하버러보러토리 상염색체 우성 정신 지체 5 및 드라베 증후군의 치료를 위한 안티센스 올리고머
WO2017106211A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of polycystic kidney disease
CN111278991B (zh) 2017-08-25 2022-04-01 斯托克制药公司 用于治疗病况和疾病的反义寡聚体
US12060558B2 (en) 2018-05-04 2024-08-13 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
CN115867657A (zh) 2020-05-11 2023-03-28 斯托克制药公司 用于治疗疾患和疾病的opa1反义寡聚物
CN115725716B (zh) * 2022-09-20 2024-04-30 湖南家辉生物技术有限公司 Pkd1致病突变基因及在制备多囊肾病诊断试剂盒中的应用

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP3715314B2 (ja) 1993-12-24 2005-11-09 ユニバーシティ オブ ウェールズ カレッジ オブ メディスン 結節硬化症2遺伝子及びその利用
US6867288B1 (en) 1994-10-12 2005-03-15 Genzyme Corporation Polycystic kidney disease gene
US6031088A (en) * 1996-05-23 2000-02-29 Albert Einstein College Of Medicine Of Yeshiva University Polycystic kidney disease PKD2 gene and uses thereof
US6100386A (en) * 1996-11-01 2000-08-08 Cold Spring Harbor Laboratory Human gene/protein involved in chronic myelogenous leukemia
CA2697031C (en) 2000-07-13 2017-10-31 The Johns Hopkins University School Of Medicine Detection and treatment of polycystic kidney disease
US6916619B2 (en) * 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
US7273701B2 (en) * 2001-10-12 2007-09-25 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
CA2872385C (en) 2003-04-11 2019-01-15 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
CA3081362C (en) 2006-07-24 2024-04-09 Athena Diagnostics, Inc. Method of detecting the occurrence of adpkd based on presence of nucleotide sequence alteration in pkd1

Also Published As

Publication number Publication date
US10760128B2 (en) 2020-09-01
US20140349290A1 (en) 2014-11-27
JP2009544314A (ja) 2009-12-17
CA2993381C (en) 2020-07-14
WO2008094194A2 (en) 2008-08-07
US8771946B2 (en) 2014-07-08
US20100047785A1 (en) 2010-02-25
CA2658421C (en) 2018-03-20
US20210079472A1 (en) 2021-03-18
CA2658421A1 (en) 2008-08-07
WO2008094194A3 (en) 2009-01-08
US11655508B2 (en) 2023-05-23
US20230374593A1 (en) 2023-11-23
CA2993381A1 (en) 2008-08-07
CA3081362A1 (en) 2008-08-07

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