نتایج جستجو برای: polyphen2
تعداد نتایج: 70 فیلتر نتایج به سال:
BACKGROUND Hemophilias A and B are X-linked bleeding disorders caused by mutations in the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulation. METHODS For genotyping, blood samples from...
Alzheimer's disease (AD) is the most common form of dementia, which can be categorized into two main forms: early onset AD and late onset AD. The genetic background of early onset AD is well understood, and three genes, the APP, PSEN1, and PSEN2 have been identified as causative genes. In the current study, we tested three siblings from Malaysia who were diagnosed with early onset dementia, as ...
The role of mitochondria in tumorigenesis has regained much attention as it could dysregulate cellular energetics, oxidative stress and apoptosis. However, the role of mitochondria in different grade gliomasis still unknown. This study aimed to identify mitochondrial DNA (mtDNA) sequence variations that could possibly affect the mitochondrial functions and also the oxidative stress status. Thre...
PURPOSE To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants. METHODS A total of 122 and 65 unrelated HTG and NTG participants, respectively, with early onset advanced POAG, 103 non-glaucoma controls and 993 unscreened ethnicity-matched controls were included in thi...
2. Major Compulsory Revisions “APPL2, an isoform of APPL1 that forms a dimer with APPL1, function as a negative regulator of adiponectin signaling via interaction with adiponectin receptors in muscle cells.” This paragraph has very close resemblance to Wang et al, J Biol Chem. 2009 November 13; 284(46): 31608–31615. [APPL2, an isoform of APPL1 that forms a dimer with APPL1, can interacts with b...
Background: Non-coding RNAs apply regulations on expression or function of a gene. A class of non-coding RNAs, natural antisense transcripts, might overlap with their flanking genes and emerge a new complexity upon regulation. WRAP53, is a natural antisense transcript overlapped in a head-to-head manner on the opposite strand of TP53. It has 3 transcripts of which WRAP53β produ...
Background: About 10-20% of children suffering from acute lymphoblastic leukemia (ALL), experience a relapse, which is a major cause of their death. Purine nucleotide analogs are frequently prescribed to maintain the treatment of ALL. Cytosolic 5´-nucleotidase (NT5C2) catalyzes the 5´ dephosphorylation of purine analogs. Gain-of-function mutations in the NT5C2 gene result in resistance to the t...
Heterozygous mutations in the central glycolytic enzyme glucokinase (GCK) can result in an autosomal dominant inherited disease, namely maturity-onset diabetes of the young, type 2 (MODY 2). MODY 2 is characterised by early onset: it usually appears before 25 years of age and presents as a mild form of hyperglycaemia. In recent years, the number of known GCK mutations has markedly increased. As...
Background. Severe equine asthma is a chronic inflammatory disease of the lung in horses similar to low-Th2 late-onset asthma in humans. The disease in horses has complex inheritance including both dominant and recessive patterns that are ill defined. This study aimed to determine the utility of RNA-Seq to call gene variants and identify mutations potentially linked to disease. Methods. RNA-Seq...
The application of massively parallel sequencing (MPS) platforms has begun to revolutionize our understanding of the immense variation in the human genome and the complexity that can underlie genetic susceptibility to disease. The utility of exome capture MPS through the identification of genes for rare Mendelian disorders based on analysis of only a few individuals has been eloquently demonstr...
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