[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

Van Der Maarel et al., 2007 - Google Patents

Facioscapulohumeral muscular dystrophy

Van 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 …
Continue reading at www.sciencedirect.com (HTML) (other versions)

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Hybridisation probes
    • C12Q1/6883Hybridisation probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/33Heterocyclic compounds
    • A61K31/395Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/5005Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008Chemical 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
    • G01N33/502Chemical 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/70Carbohydrates; Sugars; Derivatives thereof
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K45/00Medicinal 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