PT1656458E - Gene humano de susceptibilidade ao autismo e suas utilizações - Google Patents
Gene humano de susceptibilidade ao autismo e suas utilizações Download PDFInfo
- Publication number
- PT1656458E PT1656458E PT04786410T PT04786410T PT1656458E PT 1656458 E PT1656458 E PT 1656458E PT 04786410 T PT04786410 T PT 04786410T PT 04786410 T PT04786410 T PT 04786410T PT 1656458 E PT1656458 E PT 1656458E
- Authority
- PT
- Portugal
- Prior art keywords
- autism
- gene
- diagnosis
- prevention
- treatment
- Prior art date
Links
- 206010003805 Autism Diseases 0.000 title abstract 4
- 208000020706 Autistic disease Diseases 0.000 title abstract 4
- 108090000623 proteins and genes Proteins 0.000 title abstract 2
- 108060007766 SLC6A7 Proteins 0.000 abstract 2
- 238000003745 diagnosis Methods 0.000 abstract 2
- 230000035772 mutation Effects 0.000 abstract 2
- 230000002265 prevention Effects 0.000 abstract 2
- 108700028369 Alleles Proteins 0.000 abstract 1
- 208000019901 Anxiety disease Diseases 0.000 abstract 1
- 208000036640 Asperger disease Diseases 0.000 abstract 1
- 201000006062 Asperger syndrome Diseases 0.000 abstract 1
- 208000006096 Attention Deficit Disorder with Hyperactivity Diseases 0.000 abstract 1
- 208000020925 Bipolar disease Diseases 0.000 abstract 1
- 208000030979 Language Development disease Diseases 0.000 abstract 1
- 208000036626 Mental retardation Diseases 0.000 abstract 1
- 208000012902 Nervous system disease Diseases 0.000 abstract 1
- 208000025966 Neurological disease Diseases 0.000 abstract 1
- 208000012202 Pervasive developmental disease Diseases 0.000 abstract 1
- 230000036506 anxiety Effects 0.000 abstract 1
- 208000029560 autism spectrum disease Diseases 0.000 abstract 1
- 210000000349 chromosome Anatomy 0.000 abstract 1
- 238000001514 detection method Methods 0.000 abstract 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract 1
- 239000003814 drug Substances 0.000 abstract 1
- 229940079593 drug Drugs 0.000 abstract 1
- 206010015037 epilepsy Diseases 0.000 abstract 1
- 208000026278 immune system disease Diseases 0.000 abstract 1
- 208000030159 metabolic disease Diseases 0.000 abstract 1
- 208000020016 psychiatric disease Diseases 0.000 abstract 1
- 238000012216 screening Methods 0.000 abstract 1
- 230000001225 therapeutic effect Effects 0.000 abstract 1
Classifications
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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
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
- A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/1703—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- A61K38/1709—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/08—Antiepileptics; Anticonvulsants
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/18—Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/22—Anxiolytics
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/24—Antidepressants
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P3/00—Drugs for disorders of the metabolism
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P37/00—Drugs for immunological or allergic disorders
- A61P37/02—Immunomodulators
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
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- 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
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
-
- 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
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
- G01N33/5023—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects on expression patterns
-
- 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
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/5044—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics involving specific cell types
- G01N33/5058—Neurological cells
-
- 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
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5091—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing the pathological state of an organism
-
- 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
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Biomedical Technology (AREA)
- Immunology (AREA)
- General Health & Medical Sciences (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Medicinal Chemistry (AREA)
- Organic Chemistry (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Analytical Chemistry (AREA)
- Biochemistry (AREA)
- Cell Biology (AREA)
- Biotechnology (AREA)
- Veterinary Medicine (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Pathology (AREA)
- Physics & Mathematics (AREA)
- Public Health (AREA)
- Pharmacology & Pharmacy (AREA)
- Microbiology (AREA)
- Animal Behavior & Ethology (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- General Physics & Mathematics (AREA)
- Toxicology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Food Science & Technology (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Tropical Medicine & Parasitology (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Gastroenterology & Hepatology (AREA)
- Wood Science & Technology (AREA)
- Biophysics (AREA)
- Psychiatry (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US49691703P | 2003-08-22 | 2003-08-22 | |
| US49690003P | 2003-08-22 | 2003-08-22 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| PT1656458E true PT1656458E (pt) | 2009-06-24 |
Family
ID=34221427
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PT04786410T PT1656458E (pt) | 2003-08-22 | 2004-08-20 | Gene humano de susceptibilidade ao autismo e suas utilizações |
Country Status (10)
| Country | Link |
|---|---|
| US (1) | US20070134664A1 (https=) |
| EP (1) | EP1656458B1 (https=) |
| JP (1) | JP2007503210A (https=) |
| AT (1) | ATE431855T1 (https=) |
| AU (1) | AU2004267247B2 (https=) |
| CA (1) | CA2535754A1 (https=) |
| DE (1) | DE602004021186D1 (https=) |
| DK (1) | DK1656458T3 (https=) |
| PT (1) | PT1656458E (https=) |
| WO (1) | WO2005019474A2 (https=) |
Families Citing this family (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB0504096D0 (en) * | 2005-02-28 | 2005-04-06 | Tipogen As | Method |
| WO2006124897A2 (en) * | 2005-05-13 | 2006-11-23 | Lexicon Genetics Incorporated | Methods and compositions for improving cognition |
| CA2668811A1 (en) * | 2006-11-07 | 2008-06-05 | Lexicon Pharmaceuticals, Inc. | Methods of treating cognitive impairment and dementia |
| EP2963129A3 (en) * | 2008-11-12 | 2016-05-11 | University of Utah Research Foundation | Autism associated genetic markers |
| WO2010138796A2 (en) * | 2009-05-29 | 2010-12-02 | Genomind, Llc | Methods for assessment and treatment of depression via utilization of single nucleotide polymorphisms analysis |
| US20110237537A1 (en) * | 2009-05-29 | 2011-09-29 | Lombard Jay L | Methods for assessment and treatment of mood disorders via single nucleotide polymorphisms analysis |
| US8355927B2 (en) | 2010-11-05 | 2013-01-15 | Genomind, Llc | Neuropsychiatric test reports |
| WO2011066132A1 (en) * | 2009-11-24 | 2011-06-03 | St. Jude Children's Research Hospital | Use of sarcoplasmic ca2+-atpase type 2 protein for diagnosing and treating learning or mental disorders |
| WO2012078602A2 (en) * | 2010-12-06 | 2012-06-14 | Children's Medical Center Corporation | Method for diagnosis and method of treatment of autism spectrum disorders and intellectual disability |
| US20140194310A1 (en) | 2011-05-24 | 2014-07-10 | Daniel H. Geschwind | Genes dysregulated in autism as biomarkers and targets for therapeutic pathways |
| CN114019161B (zh) * | 2021-11-08 | 2022-08-09 | 陕西脉元生物科技有限公司 | 抗camk2a自身抗体的试剂在制备诊断神经系统症状相关疾病的试剂盒中的应用 |
Family Cites Families (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US4861719A (en) | 1986-04-25 | 1989-08-29 | Fred Hutchinson Cancer Research Center | DNA constructs for retrovirus packaging cell lines |
| US5278056A (en) | 1988-02-05 | 1994-01-11 | The Trustees Of Columbia University In The City Of New York | Retroviral packaging cell lines and process of using same |
| US5670488A (en) | 1992-12-03 | 1997-09-23 | Genzyme Corporation | Adenovirus vector for gene therapy |
| DE69434860T2 (de) | 1993-02-22 | 2007-03-15 | The Rockefeller University | Herstellung von helfer-freien retroviren mit hohem titer mittels transienter transfektion |
| FR2712812B1 (fr) | 1993-11-23 | 1996-02-09 | Centre Nat Rech Scient | Composition pour la production de produits thérapeutiques in vivo. |
| IL116816A (en) | 1995-01-20 | 2003-05-29 | Rhone Poulenc Rorer Sa | Cell for the production of a defective recombinant adenovirus or an adeno-associated virus and the various uses thereof |
| US6013516A (en) | 1995-10-06 | 2000-01-11 | The Salk Institute For Biological Studies | Vector and method of use for nucleic acid delivery to non-dividing cells |
| US6228582B1 (en) * | 1997-06-17 | 2001-05-08 | University Of Rochester | Genetic polymorphisms which are associated with autism spectrum disorders |
| AU3773099A (en) * | 1998-04-29 | 1999-11-16 | Government Of The United States Of America, As Represented By The Secretary Of The Department Of Health And Human Services, The | Identification of polymorphisms in the pctg4 region of xq13 |
| AU4989700A (en) * | 1999-05-06 | 2000-11-21 | Children's Hospital Of Los Angeles | Autism gene |
| US20030152970A1 (en) * | 2001-11-06 | 2003-08-14 | Millennium Pharmaceuticals, Inc. | Methods and compositions to treat pain and painful disorders using 577, 20739 or 57145 |
| CA2364106A1 (fr) * | 2001-11-30 | 2003-05-30 | Christopher Gillberg | Polynucleotide et proteine impliques dans la synaptogenese, variants de ceux-ci, et leurs applications therapeutiques et diagnostiques |
-
2004
- 2004-08-20 AU AU2004267247A patent/AU2004267247B2/en not_active Ceased
- 2004-08-20 DK DK04786410T patent/DK1656458T3/da active
- 2004-08-20 PT PT04786410T patent/PT1656458E/pt unknown
- 2004-08-20 CA CA002535754A patent/CA2535754A1/en not_active Abandoned
- 2004-08-20 AT AT04786410T patent/ATE431855T1/de active
- 2004-08-20 JP JP2006524467A patent/JP2007503210A/ja active Pending
- 2004-08-20 DE DE602004021186T patent/DE602004021186D1/de not_active Expired - Lifetime
- 2004-08-20 WO PCT/IB2004/002995 patent/WO2005019474A2/en not_active Ceased
- 2004-08-20 EP EP04786410A patent/EP1656458B1/en not_active Expired - Lifetime
- 2004-08-20 US US10/569,243 patent/US20070134664A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| EP1656458A2 (en) | 2006-05-17 |
| DK1656458T3 (da) | 2009-08-24 |
| US20070134664A1 (en) | 2007-06-14 |
| AU2004267247B2 (en) | 2010-02-18 |
| DE602004021186D1 (de) | 2009-07-02 |
| CA2535754A1 (en) | 2005-03-03 |
| WO2005019474A3 (en) | 2005-10-13 |
| ATE431855T1 (de) | 2009-06-15 |
| AU2004267247A1 (en) | 2005-03-03 |
| WO2005019474A2 (en) | 2005-03-03 |
| JP2007503210A (ja) | 2007-02-22 |
| EP1656458B1 (en) | 2009-05-20 |
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