نتایج جستجو برای: als gene
تعداد نتایج: 1166211 فیلتر نتایج به سال:
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. METHODS In this study, DNA from 28 Hungarian ALS patients was subjected to targeted high-throughput se...
Several missense mutations in the coding region of angiogenin (ANG) gene have been identified in Amyotrophic Lateral Sclerosis (ALS) patients. These mutations lead to loss of either ribonucleolytic activity or nuclear translocation activity or both of ANG (protein encoded by ANG gene) causing ALS. We present here a cohesive and comprehensive picture of the molecular origins of functional loss o...
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The function of the C9ORF72 protein is unknown, as is the mechanism by which the repeat expansion could cause disease. Induced pluripotent stem cell (iPSC)-differentiated neuron...
Background: Differentiation between amyotrophic lateral sclerosis (ALS) and cervical spondylotic myelopathy (CSM) not only for those similar clinical features but also for different handling is very important in clinical practice. Considering that EMG of the sternocleidomastoid muscle (SCM) is using for differential diagnosis of these diseases in Iran, present study was aimed to evaluate the ...
OBJECTIVE To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. METHODS Allelic association statistics were calculated for polymorphisms in the ANG gene in 859 patients and 1047 controls from Sweden, Ireland and Poland. Plasma, serum and CSF angiogenin l...
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease with higher selectivity in degeneration of motor neurons. However, the molecular mechanism by which the ALS-linked mutants of human superoxide dismutase 1 (SOD1) gene induce neurotoxicity remains obscure yet. Here, we show that depletion of CIIA expression by RNA interference (RNAi) promoted cytotoxicity caused by A...
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predomin...
Amyotrophic lateral sclerosis (ALS) is one of the most common adult-onset neurodegenerative diseases, with progressive paralysis and muscle atrophy. The exact pathogenic mechanism remains unknown, but recent evidence suggests that differential gene expression and gene splicing may play a significant role. We used Affymetrix GeneChip Mouse Exon 1.0 ST Array to investigate the expression profilin...
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