نتایج جستجو برای: als gene
تعداد نتایج: 1166211 فیلتر نتایج به سال:
Amyotrophic lateral sclerosis (ALS) is a severe progressive neurodegenerative disease. The cause is unknown, but genetic abnormalities have been identified in subjects with familial ALS and also in subjects with sporadic ALS. Environmental factors such as occupational exposure have been shown to be risk factors for the development of ALS. Patients differ in their clinical features and differ in...
More than 20 distinct gene loci have so far been implicated in amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder characterized by progressive neurodegeneration of motor neurons (MN) and death. Most of this distinct set of ALS-related proteins undergoes toxic deposition specifically in MN for reasons which remain unclear. Here we overview a recent body of evidence indicativ...
C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) ...
Amyotrophic lateral sclerosis (ALS) is the most frequently occurring of the neuromuscular degenerative disorders, with a median survival time of 3-5 years. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. To date 16 genes and loci have been associated with ALS, with mutations in DNA/RNA-regulating gen...
Nonnegative matrix factorization (NMF) is a common method in data mining that have been used in different applications as a dimension reduction, classification or clustering method. Methods in alternating least square (ALS) approach usually used to solve this non-convex minimization problem. At each step of ALS algorithms two convex least square problems should be solved, which causes high com...
Amyotrophic lateral sclerosis (ALS) is a fatal motor disease in adults. Its pathophysiology remains mysterious, but tremendous advances have been made with the discovery of the most frequent mutations of its more common familial form linked to the C9ORF72 gene. Although most cases are still considered sporadic, these genetic mutations have revealed the role of RNA production, processing and tra...
candida albicans is an opportunistic fungal pathogen found as mycoflora in the human body surfaces. sevral genes play a crucial rule in its virulence including hwp1 (hyphal wall protein 1), bcr1 and als gene family. hwp1 gene is a responsible for coding a cell surface protein, which mediates biofilm formation in candida albicans. here we investigated the presence of the hwp1gene was characteris...
More than 100 point mutations spanning the 153 amino acid SOD1 sequence have been identified in individuals with ALS. In 1999 the Amyotrophic Lateral Sclerosis Database (ALSOD) was generated to store these mutations along with ALS patient information to facilitate the identification of a correlation between the SOD1 genotype with the ALS phenotype. Here we report our ongoing development and red...
The authors conducted a 2003-2007 case-control study including 184 cases and 194 controls to examine the association between blood lead and the risk of amyotrophic lateral sclerosis (ALS) among US veterans and to explore the influence on this association of bone turnover and genetic factors related to lead toxicokinetics. Blood lead, plasma biomarkers of bone formation (procollagen type 1 amino...
Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility and phenotypes in sporadic ALS, we performed a genome-wide SNP analysis in sporadic ALS cases and controls. A total of 288,357 SNPs were screened in a set of 1,821 sporadic ...
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