DE60233586D1 - Noonansyndromgen - Google Patents

Noonansyndromgen

Info

Publication number
DE60233586D1
DE60233586D1 DE60233586T DE60233586T DE60233586D1 DE 60233586 D1 DE60233586 D1 DE 60233586D1 DE 60233586 T DE60233586 T DE 60233586T DE 60233586 T DE60233586 T DE 60233586T DE 60233586 D1 DE60233586 D1 DE 60233586D1
Authority
DE
Germany
Prior art keywords
ptpn11
variants
diagnostic
therapeutic applications
mutations
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.)
Expired - Lifetime
Application number
DE60233586T
Other languages
English (en)
Inventor
Bruce D Gelb
Marco Tartaglia
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.)
Icahn School of Medicine at Mount Sinai
Original Assignee
Mount Sinai School of Medicine
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 Mount Sinai School of Medicine filed Critical Mount Sinai School of Medicine
Application granted granted Critical
Publication of DE60233586D1 publication Critical patent/DE60233586D1/de
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

Links

Classifications

    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • 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
    • A61K39/00—Medicinal preparations containing antigens or antibodies
    • A61K2039/505—Medicinal preparations containing antigens or antibodies comprising antibodies
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Oscillators With Electromechanical Resonators (AREA)
  • External Artificial Organs (AREA)
DE60233586T 2001-10-01 2002-10-01 Noonansyndromgen Expired - Lifetime DE60233586D1 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US32653201P 2001-10-01 2001-10-01
PCT/US2002/031290 WO2003029422A2 (en) 2001-10-01 2002-10-01 Noonan syndrome gene

Publications (1)

Publication Number Publication Date
DE60233586D1 true DE60233586D1 (en) 2009-10-15

Family

ID=23272619

Family Applications (1)

Application Number Title Priority Date Filing Date
DE60233586T Expired - Lifetime DE60233586D1 (en) 2001-10-01 2002-10-01 Noonansyndromgen

Country Status (7)

Country Link
US (1) US7335469B2 (de)
EP (1) EP1448587B1 (de)
AT (1) ATE441727T1 (de)
AU (1) AU2002334773A1 (de)
CA (1) CA2495529C (de)
DE (1) DE60233586D1 (de)
WO (1) WO2003029422A2 (de)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101137760B (zh) * 2005-03-18 2011-01-26 香港中文大学 检测染色体非整倍性的方法
US7776551B2 (en) * 2005-07-12 2010-08-17 Ramot At Tel Aviv University Ltd. Methods and kits for diagnosing and treating mental retardation
US8221979B2 (en) * 2006-11-16 2012-07-17 Mount Sinai School Of Medicine Compositions and methods for detecting Noonan syndrome
EP2446051A1 (de) 2009-05-06 2012-05-02 Mount Sinai School of Medicine Noonan-ähnliches syndrom mit anagenphase-haarverlust verursachende shoc2-mutationen
CN102108365A (zh) * 2009-12-29 2011-06-29 上海新号源生物科技有限公司 一组恶性肿瘤中突变PTPα基因及其应用
US20130028886A1 (en) * 2010-03-29 2013-01-31 Nicola Aceto Protein tyrosine phosphatase, non-receptor type 11 (ptpn11) and tumor initiating cells
CN109983001B (zh) 2016-07-12 2023-04-04 锐新医药公司 作为变构shp2抑制剂的2,5-双取代型3-甲基吡嗪及2,5,6-三取代型3-甲基吡嗪
IL296456A (en) 2017-01-23 2022-11-01 Revolution Medicines Inc Bicyclics as allosteric shp2 inhibitors
BR112019014527A2 (pt) 2017-01-23 2020-02-27 Revolution Medicines, Inc. Compostos de piridina como inibidores de shp2 alostéricos
AU2018328273A1 (en) 2017-09-07 2020-03-12 Revolution Medicines, Inc. SHP2 inhibitor compositions and methods for treating cancer
AU2018347516A1 (en) 2017-10-12 2020-05-07 Revolution Medicines, Inc. Pyridine, pyrazine, and triazine compounds as allosteric SHP2 inhibitors
SG11202009793TA (en) * 2018-04-10 2020-10-29 Revolution Medicines Inc Shp2 inhibitor compositions, methods for treating cancer and methods for identifying a subject with shp2 mutations

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5034506A (en) 1985-03-15 1991-07-23 Anti-Gene Development Group Uncharged morpholino-based polymers having achiral intersubunit linkages
EP0710720A1 (de) 1988-06-13 1996-05-08 American Biogenetic Sciences, Inc. Verfahren zur Herstellung monoklonaler Antikörper mit Hilfe einer keimfreien Tieres
US5783682A (en) 1990-07-27 1998-07-21 Isis Pharmaceuticals, Inc. Oligonucleotide mimics having nitrogen-containing linkages
US5677437A (en) 1990-07-27 1997-10-14 Isis Pharmaceuticals, Inc. Heteroatomic oligonucleoside linkages
US5792844A (en) 1990-07-27 1998-08-11 Isis Pharmaceuticals, Inc. Oligonucleoside linkages containing adjacent nitrogen atoms
US5536636A (en) 1991-06-26 1996-07-16 Beth Israel Hospital Methods for identifying a tyrosine phosphatase abnormality associated with neoplastic disease
MX9304769A (es) * 1992-08-05 1994-05-31 Max Planck Gesellschaft Subfamilia ptp-d de fosfatasas de la proteina tirosina.
US5589375A (en) * 1992-10-06 1996-12-31 Max-Planck-Gesellschaft Zur Forderung Der Wissenschaften E. V. PTP 1D: a novel protein tyrosine phosphatase
US5637684A (en) 1994-02-23 1997-06-10 Isis Pharmaceuticals, Inc. Phosphoramidate and phosphorothioamidate oligomeric compounds
WO1999023493A1 (en) 1997-10-31 1999-05-14 The Rockefeller University Methods of identifying agents that modulate leptin activity
DE69933661T3 (de) * 1998-04-15 2012-01-26 Merck Serono Biodevelopment Genomische sequenz des 5-lipoxygenase-aktivierenden proteins (flap), polymorphische marker und ihre anwendung in der diagnose von asthma
US6156551A (en) 1998-06-05 2000-12-05 Beth Israel Deaconess Medical Center Activated mutants of SH2-domain-containing protein tyrosine phosphatases and methods of use thereof
US6200807B1 (en) * 1999-07-21 2001-03-13 Isis Pharmaceuticals Inc. Antisense inhibition of SHP-2 expression

Also Published As

Publication number Publication date
CA2495529A1 (en) 2003-04-10
WO2003029422A3 (en) 2003-12-11
EP1448587A4 (de) 2005-06-08
US7335469B2 (en) 2008-02-26
US20030125289A1 (en) 2003-07-03
WO2003029422A2 (en) 2003-04-10
ATE441727T1 (de) 2009-09-15
CA2495529C (en) 2009-05-19
EP1448587B1 (de) 2009-09-02
EP1448587A2 (de) 2004-08-25
AU2002334773A1 (en) 2003-04-14

Similar Documents

Publication Publication Date Title
Larsen et al. Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues
Rawlings et al. Structure of membrane glutamate carboxypeptidase
WO2004024757A3 (en) Modified pna molecules
DE60233586D1 (en) Noonansyndromgen
AU3368497A (en) Human dnase i hyperactive variants
MX2010005783A (es) Secuencias de aminoacidos dirigidas contra citoquinas heterodimericas y/o sus receptores y polipeptidos que comprenden las mismas.
MXPA02012743A (es) Moleculas tipo il-17 y usos de las mismas.
HUP0401124A2 (hu) VII koagulációs faktor származékok
DK1005540T3 (da) IKK-beta-proteiner, nukleinsyrer og fremgangsmåder
MXPA03001984A (es) Variantes de factor vii de coagulacion humano.
AU2003266214A1 (en) Human coagulation factor vii polypeptides
TW200407425A (en) Human coagulation factor VII polypeptides
DK1192247T3 (da) Sphingosinkinaseenzym
WO2004041216A3 (en) Ptpn11 (shp-2) mutations and cancer
WO2001012661A3 (en) RECEPTOR-MEDIATED UPTAKE OF AN EXTRACELLULAR BCL-xL FUSION PROTEIN INHIBITS APOPTOSIS
PL374550A1 (en) Il-17 like molecules and uses thereof
MXPA03010728A (es) Moleculas de proteina-2 relacionadas con b7 y uso de las mismas.
WO2008061239A3 (en) Compositions and methods for detecting noonan syndrome
WO2002072632A3 (en) Nucleic acids of the human abcc11 gene, vectors containing such nucleic acids and uses thereof.
ATE374260T1 (de) Asthma-assoziiertes gen
WO2005023979A3 (en) Isolated s. mansoni nucleic acid molecules and uses thereof
WO2002064827A3 (en) Nucleic acids of the human abca12 gene, vectors containing such nucleic acids, and uses thereof
HUP0002231A2 (hu) Porc oligomer mátrix fehérje alkalmazása reumatoid arthritis kezelésére
WO2003100075A3 (en) Bsnd nucleic acids and proteins
WO2000063352A3 (en) Human homologues of fused gene

Legal Events

Date Code Title Description
8364 No opposition during term of opposition