نتایج جستجو برای: als gene
تعداد نتایج: 1166211 فیلتر نتایج به سال:
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To investigate the pathological role of C9ORF72 in these diseases, we generated a line of mice carrying a bacterial artificial chromosome containing exons 1 to 6 of the human C9ORF72 gene with approximately 5...
Selective neuronal loss is the hallmark of neurodegenerative diseases. In patients with amyotrophic lateral sclerosis (ALS), most motor neurons die but those innervating extraocular, pelvic sphincter, and slow limb muscles exhibit selective resistance. We identified 18 genes that show >10-fold differential expression between resistant and vulnerable motor neurons. One of these, matrix metallopr...
Gene flow between jointed goatgrass and winter wheat is a concern because transfer of herbicide-resistance genes from imidazolinone-resistant (IR) winter wheat cultivars to jointed goatgrass could restrict weed-management options for this serious weed of winter wheat cropping systems. The objectives of this study were (1) to investigate the frequency of interspecific hybridization between IR wh...
To my family " The disease will take my body, but not my soul, not my soul. " Tuesdays with Morrie by Mitch Albom Abstract Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of ...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting upper and lower motoneurons (MNs). The etiology of the disease is still unknown for most patients with sporadic ALS, while in 5-10% of the familial cases, several gene mutations have been linked to the disease. Mutations in the gene encoding Cu, Zn superoxide dismutase (SOD1), reproducing in animal models a patho...
Muscle atrophy is a major hallmark of amyotrophic lateral sclerosis (ALS), the most frequent adult-onset motor neuron disease. To define the full set of alterations in gene expression in skeletal muscle during the course of the disease, we used the G86R superoxide dismutase-1 transgenic mouse model of ALS and performed high-density oligonucleotide microarrays. We compared these data to those ob...
(ALS) is a neurodegenerative disease characterized by the loss of motor neurons leading to paralysis and death. The vast majority of ALS cases are idiopathic; however, at least 2% are caused by mutation of the copper-zinc superoxide dismutase 1 gene on chromosome 21. Here, we propose a three-pronged approach: (1) identify the molecular trigger for the onset of symptomatic ALS using a microray a...
Progress in molecular investigations presents new data facilitating the recognition of pathogenic mechanisms of numerous nervous system diseases, among them amyotrophic lateral sclerosis (ALS). Molecular studies of ALS are mainly concentrated on genetic search, excitotoxicity and astrocytic participation, pathology of neurofilaments, apoptosis, trophic factors, and selective motoneurone degener...
A myotrophic lateral sclerosis (ALS) is an adultonset neurodegenerative disease characterized by progressive loss of motor neurons from the spinal cord, brainstem, and cerebral cortex that typically results in death 2 to 5 years following onset. Approximately 10% of patients with ALS have a family history, of which 15% to 20% are linked to mutations in the SOD1 gene; these patients most frequen...
IMPORTANCE The identification of the chromosome 9 open reading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the understanding of amyotrophic lateral sclerosis (ALS) pathogenesis. The pathophysiological mechanism by which the c9orf72 gene expansion leads to neurodegeneration is not yet elucidated. Cortical hyperexcitability is potentially an important pat...
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