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

Suzuki et al., 2010 - Google Patents

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

Suzuki et al., 2010

View HTML
Document ID
12905768299368355431
Author
Suzuki N
Aoki M
Warita H
Kato M
Mizuno H
Shimakura N
Akiyama T
Furuya H
Hokonohara T
Iwaki A
Togashi S
Konno H
Itoyama Y
Publication year
Publication venue
Journal of human genetics

External Links

Snippet

Mutations in the fused in sarcoma (FUS, also known as translated in liposarcoma) gene have been recently discovered to be associated with familial amyotrophic lateral sclerosis (FALS) in African, European and American populations. In a Japanese family with FALS, we …
Continue reading at www.nature.com (HTML) (other versions)

Classifications

    • 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
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • 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
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/2814—Dementia; Cognitive disorders
    • G01N2800/2821—Alzheimer

Similar Documents

Publication Publication Date Title
Suzuki et al. FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
Dickey et al. PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically
Duric et al. A negative regulator of MAP kinase causes depressive behavior
Holland et al. Higher rates of decline for women and apolipoprotein E ε4 carriers
Yamamoto et al. Rosmarinic acid suppresses tau phosphorylation and cognitive decline by downregulating the JNK signaling pathway
Oh et al. The role of BDNF in age-dependent changes of excitatory and inhibitory synaptic markers in the human prefrontal cortex
Jones et al. Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in Down syndrome
Giess et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene
Souchet et al. Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models
Sukjamnong et al. Prenatal exposure to bisphenol A alters the transcriptome-interactome profiles of genes associated with Alzheimer’s disease in the offspring hippocampus
Foti et al. Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease
Zara et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Zhao et al. Loss of function of CMPK2 causes mitochondria deficiency and brain calcification
O'donovan et al. Glutamate transporter splice variant expression in an enriched pyramidal cell population in schizophrenia
McGoldrick et al. Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression
Higuchi et al. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
Pierson et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
Bagit et al. Exercise and estrogen: common pathways in Alzheimer’s disease pathology
Yabe et al. Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome
Giannoccaro et al. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature
Shimizu et al. Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene
Edgar et al. Resilient emotionality and molecular compensation in mice lacking the oligodendrocyte-specific gene Cnp1
Chiang et al. Novel TARDBP mutations in Nordic ALS patients
Bennouna‐Greene et al. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia
Anttonen et al. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss