DE60237509D1 - Gen zum nachweis von patienten mit familiärer dysautonomie - Google Patents
Gen zum nachweis von patienten mit familiärer dysautonomieInfo
- Publication number
- DE60237509D1 DE60237509D1 DE60237509T DE60237509T DE60237509D1 DE 60237509 D1 DE60237509 D1 DE 60237509D1 DE 60237509 T DE60237509 T DE 60237509T DE 60237509 T DE60237509 T DE 60237509T DE 60237509 D1 DE60237509 D1 DE 60237509D1
- Authority
- DE
- Germany
- Prior art keywords
- mutation
- haplotype
- patients
- gene
- exon
- 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
Links
- 108090000623 proteins and genes Proteins 0.000 title abstract 2
- 230000035772 mutation Effects 0.000 abstract 6
- 208000001730 Familial dysautonomia Diseases 0.000 abstract 3
- 201000001638 Riley-Day syndrome Diseases 0.000 abstract 3
- 102000054766 genetic haplotypes Human genes 0.000 abstract 3
- 108091032973 (ribonucleotides)n+m Proteins 0.000 abstract 2
- 102100039246 Elongator complex protein 1 Human genes 0.000 abstract 2
- 101000813117 Homo sapiens Elongator complex protein 1 Proteins 0.000 abstract 2
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract 2
- 210000001519 tissue Anatomy 0.000 abstract 2
- 108700028369 Alleles Proteins 0.000 abstract 1
- 206010003840 Autonomic nervous system imbalance Diseases 0.000 abstract 1
- 101150097448 FD gene Proteins 0.000 abstract 1
- 210000004556 brain Anatomy 0.000 abstract 1
- 210000000349 chromosome Anatomy 0.000 abstract 1
- 230000007547 defect Effects 0.000 abstract 1
- 201000010099 disease Diseases 0.000 abstract 1
- 208000035475 disorder Diseases 0.000 abstract 1
- 230000003485 founder effect Effects 0.000 abstract 1
- 208000037584 hereditary sensory and autonomic neuropathy Diseases 0.000 abstract 1
- 108020004999 messenger RNA Proteins 0.000 abstract 1
- 238000000034 method Methods 0.000 abstract 1
- 239000000203 mixture Substances 0.000 abstract 1
- 230000026731 phosphorylation Effects 0.000 abstract 1
- 238000006366 phosphorylation reaction Methods 0.000 abstract 1
- 238000012216 screening Methods 0.000 abstract 1
- 230000001953 sensory effect Effects 0.000 abstract 1
Classifications
-
- 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
-
- 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
-
- 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
- C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
- C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
- C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
- C12N15/8509—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/07—Animals genetically altered by homologous recombination
- A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2227/00—Animals characterised by species
- A01K2227/10—Mammal
- A01K2227/105—Murine
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2267/00—Animals characterised by purpose
- A01K2267/03—Animal model, e.g. for test or diseases
- A01K2267/0306—Animal model for genetic diseases
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2267/00—Animals characterised by purpose
- A01K2267/03—Animal model, e.g. for test or diseases
- A01K2267/0306—Animal model for genetic diseases
- A01K2267/0318—Animal model for neurodegenerative disease, e.g. non- Alzheimer's
-
- 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
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Engineering & Computer Science (AREA)
- Zoology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Wood Science & Technology (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Physics & Mathematics (AREA)
- Microbiology (AREA)
- Biomedical Technology (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Toxicology (AREA)
- Gastroenterology & Hepatology (AREA)
- Medicinal Chemistry (AREA)
- Veterinary Medicine (AREA)
- Plant Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Peptides Or Proteins (AREA)
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US26008001P | 2001-01-06 | 2001-01-06 | |
PCT/US2002/000473 WO2002059381A2 (en) | 2001-01-06 | 2002-01-07 | Gene for identifying individuals with familial dysautonomia |
Publications (1)
Publication Number | Publication Date |
---|---|
DE60237509D1 true DE60237509D1 (de) | 2010-10-14 |
Family
ID=22987684
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DE60237509T Expired - Lifetime DE60237509D1 (de) | 2001-01-06 | 2002-01-07 | Gen zum nachweis von patienten mit familiärer dysautonomie |
Country Status (8)
Country | Link |
---|---|
US (5) | US7388093B2 (de) |
EP (1) | EP1373568B1 (de) |
AT (1) | ATE479773T1 (de) |
CA (1) | CA2433869C (de) |
DE (1) | DE60237509D1 (de) |
HK (1) | HK1061702A1 (de) |
IL (2) | IL156752A0 (de) |
WO (1) | WO2002059381A2 (de) |
Families Citing this family (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US7388093B2 (en) | 2001-01-06 | 2008-06-17 | The General Hospital Corporation | Gene for identifying individuals with familial dysautonomia |
US20190276891A1 (en) * | 2001-01-06 | 2019-09-12 | The General Hospital Corporation | Gene for identifying individuals with familial dysautonomia |
IL142015A0 (en) * | 2001-01-17 | 2002-03-10 | Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia | |
AU2004278773B2 (en) | 2003-10-03 | 2011-05-19 | The General Hospital Corporation | Methods for altering mRNA splicing and treating familial dysautonomia and other mechanistically related disorders |
CA2563087A1 (en) * | 2004-04-09 | 2005-12-15 | Ronald S. Goldstein | Methods for generating neuronal cells from human embryonic stem cells and uses thereof |
WO2013106770A1 (en) * | 2012-01-11 | 2013-07-18 | Isis Pharmaceuticals, Inc. | Compositions and methods for modulation of ikbkap splicing |
Family Cites Families (14)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5217863A (en) * | 1988-02-04 | 1993-06-08 | Medical Research Council | Detection of mutations in nucleic acids |
US5387506A (en) | 1992-05-29 | 1995-02-07 | The General Hospital Corporation | Use of genetic markers to diagnose familial dysautonomia |
AU4390293A (en) | 1992-05-29 | 1993-12-30 | General Hospital Corporation, The | Use of genetic markers to diagnose familial dysautonomia |
FR2722295B1 (fr) | 1994-07-07 | 1996-10-04 | Roussy Inst Gustave | Methode d'analyse d'adn dite sscp et gel d'electro-phorene |
US5597898A (en) * | 1995-02-15 | 1997-01-28 | Yale University | NF-κB activation regulatory protein, IκB-β |
US5968740A (en) * | 1995-07-24 | 1999-10-19 | Affymetrix, Inc. | Method of Identifying a Base in a Nucleic Acid |
MX9802356A (es) * | 1995-09-26 | 1998-07-31 | Univ Washington | Glicoproteina b de la subfamilia rfhv/kshv de virus de herpes. |
US6183952B1 (en) * | 1996-08-19 | 2001-02-06 | Abbott Laboratories | Reagents and methods useful for detecting diseases of the breast |
US5891719A (en) * | 1997-11-16 | 1999-04-06 | Tularik Inc. | IKAP nucleic acids |
EP1053352B1 (de) * | 1998-02-04 | 2002-09-18 | Variagenics, Inc. | Techniken zu detektion von fehlpaarungen |
IL151769A0 (en) | 2000-03-15 | 2003-04-10 | Gen Hospital Corp | Use of genetic markers to diagnose familial dysautonomia |
US7388093B2 (en) * | 2001-01-06 | 2008-06-17 | The General Hospital Corporation | Gene for identifying individuals with familial dysautonomia |
US20030092019A1 (en) | 2001-01-09 | 2003-05-15 | Millennium Pharmaceuticals, Inc. | Methods and compositions for diagnosing and treating neuropsychiatric disorders such as schizophrenia |
IL142015A0 (en) | 2001-01-17 | 2002-03-10 | Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia |
-
2002
- 2002-01-07 US US10/041,856 patent/US7388093B2/en not_active Expired - Lifetime
- 2002-01-07 IL IL15675202A patent/IL156752A0/xx unknown
- 2002-01-07 DE DE60237509T patent/DE60237509D1/de not_active Expired - Lifetime
- 2002-01-07 AT AT02714715T patent/ATE479773T1/de not_active IP Right Cessation
- 2002-01-07 EP EP02714715A patent/EP1373568B1/de not_active Expired - Lifetime
- 2002-01-07 CA CA2433869A patent/CA2433869C/en not_active Expired - Lifetime
- 2002-01-07 WO PCT/US2002/000473 patent/WO2002059381A2/en not_active Application Discontinuation
-
2003
- 2003-07-02 IL IL156752A patent/IL156752A/en active IP Right Grant
-
2004
- 2004-07-02 HK HK04104743.8A patent/HK1061702A1/xx not_active IP Right Cessation
-
2005
- 2005-03-04 US US11/073,203 patent/US7407756B2/en not_active Expired - Lifetime
-
2008
- 2008-07-14 US US12/172,847 patent/US20090176222A1/en not_active Abandoned
-
2012
- 2012-04-18 US US13/449,981 patent/US20130066060A1/en not_active Abandoned
-
2015
- 2015-10-13 US US14/881,966 patent/US20160265052A1/en not_active Abandoned
Also Published As
Publication number | Publication date |
---|---|
US20050204409A1 (en) | 2005-09-15 |
WO2002059381A3 (en) | 2003-10-09 |
IL156752A0 (en) | 2004-02-08 |
CA2433869A1 (en) | 2002-08-01 |
WO2002059381A2 (en) | 2002-08-01 |
ATE479773T1 (de) | 2010-09-15 |
US7388093B2 (en) | 2008-06-17 |
US20160265052A1 (en) | 2016-09-15 |
HK1061702A1 (en) | 2004-09-30 |
US20020169299A1 (en) | 2002-11-14 |
US20130066060A1 (en) | 2013-03-14 |
CA2433869C (en) | 2015-11-24 |
US20090176222A1 (en) | 2009-07-09 |
EP1373568A2 (de) | 2004-01-02 |
US7407756B2 (en) | 2008-08-05 |
EP1373568B1 (de) | 2010-09-01 |
IL156752A (en) | 2013-08-29 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Bauwens et al. | An Augmented ABCA 4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in B elgian S targardt Patients | |
Rochette et al. | Multicentric origin of hemochromatosis gene (HFE) mutations | |
Dopazo et al. | 267 Spanish exomes reveal population-specific differences in disease-related genetic variation | |
Salisbury et al. | SNP and haplotype variation in the human genome | |
Gilissen et al. | Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome | |
Williams et al. | Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease | |
Duraturo et al. | Association of low‐risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects | |
Belmouden et al. | A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco | |
Palz et al. | Clustering of mutations associated with mild Marfan‐like phenotypes in the 3′ region of FBN1 suggests a potential genotype–phenotype correlation | |
Symoens et al. | Type I procollagen C‐propeptide defects: study of genotype–phenotype correlation and predictive role of crystal structure | |
Inoue et al. | Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement | |
DE60237509D1 (de) | Gen zum nachweis von patienten mit familiärer dysautonomie | |
Tavera‐Tapia et al. | RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility | |
Ma et al. | Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease | |
Seddon et al. | Evolutionary history of DLA class II haplotypes in canine diabetes mellitus through single nucleotide polymorphism genotyping | |
Hegele et al. | Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency | |
Fuchs‐Telem et al. | New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome | |
Borrego et al. | Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease | |
Priyadarshi et al. | Genetic association and altered gene expression of osteoprotegerin in otosclerosis patients | |
Fidder et al. | Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients | |
Västinsalo et al. | Extended mutation spectrum of Usher syndrome in Finland | |
Park et al. | The association of osteoprotegerin gene polymorphisms with periodontitis | |
Mukherjee et al. | Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene | |
Tindale et al. | Rare and common variants in the Apolipoprotein E gene in healthy oldest old | |
EP1255858A2 (de) | Verbesserte mutationsanalyse des nf1-gens |