Van Der Maarel et al., 2007 - Google Patents
Facioscapulohumeral muscular dystrophyVan Der Maarel et al., 2007
View HTML- Document ID
- 9732356223579831813
- Author
- Van Der Maarel S
- Frants R
- Padberg G
- Publication year
- Publication venue
- Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
External Links
Snippet
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate …
- 208000008570 Facioscapulohumeral Muscular Dystrophy 0 title abstract description 161
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; 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 micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
-
- 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 the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups 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
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
-
- 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 the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups 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
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; 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
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
- A61K38/00—Medicinal preparations containing peptides
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
- A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Van Der Maarel et al. | Facioscapulohumeral muscular dystrophy | |
Tawil et al. | Facioscapulohumeral muscular dystrophy | |
KR102373074B1 (en) | Inhibitors of human ezh2, and methods of use thereof | |
Welle et al. | Skeletal muscle gene expression profiles in 20–29 year old and 65–71 year old women | |
Sei et al. | A hereditary form of small intestinal carcinoid associated with a germline mutation in inositol polyphosphate multikinase | |
Ciciliot et al. | Muscle type and fiber type specificity in muscle wasting | |
Bonora et al. | Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction | |
Simpson et al. | Regulation of neuronal cell adhesion molecule expression by NF-κB | |
Tihaya et al. | Facioscapulohumeral muscular dystrophy: the road to targeted therapies | |
KR20210049117A (en) | Bronchial Precancerous Lesion Severity and Methods Related to Progression | |
Maretina et al. | Molecular factors involved in spinal muscular atrophy pathways as possible disease-modifying candidates | |
Welle et al. | Skeletal muscle gene expression after myostatin knockout in mature mice | |
Tury et al. | The multiple roles of the cyclin‐dependent kinase inhibitory protein p57KIP2 in cerebral cortical neurogenesis | |
JP4527395B2 (en) | New cellular targets for neurotoxicity | |
Wirth et al. | Spinal muscular atrophy and therapeutic prospects | |
Quijano‐Roy et al. | EMG and nerve conduction studies in children with congenital muscular dystrophy | |
Merlini et al. | Pathophysiological mechanisms of sarcopenia in aging and in muscular dystrophy: a translational approach | |
Orrell | Facioscapulohumeral dystrophy and scapuloperoneal syndromes | |
Christiansen et al. | ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies | |
Zhou et al. | Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy | |
Cocco et al. | Nuclear inositides: PI-PLC signaling in cell growth, differentiation and pathology | |
Gropman et al. | Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood | |
AU2006214489A1 (en) | Metabolic-based methods for modulating gene expression | |
US10357543B2 (en) | Methods and compositions for treating disorders and diseases using Survival Motor Neuron (SMN) protein | |
Cocco et al. | Nuclear phospholipase C β1, regulation of the cell cycle and progression of acute myeloid leukemia |