Gene Mutations
The Contribution of Gene Mutations to the Pathogenesisof Tetralogy of Fallot
... Congenital heart disease (CHD) is considered as an important and developing area in the medical community. Since these patients can reach maturity and have children, the role of genetic determinants in increasing risk of ...
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High frequency of additional gene mutations in acute myeloid leukemia with MLL partial tandem duplication: DNMT3A mutation is associated with poor prognosis
... RUNX1 mutations in our study, MLL-PTD and gene mutations regulating DNA methylation frequently coexisted in our MLLI-PTD AML ...other gene mutations involving DNA methylation, it is ...
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Gene Mutations: One of the Many Roads to Deafness
... each gene causes a significant disruption of hearing (Figure ...VI gene mutations affect the mobility of proteins, which in turn affects the stability of the ...stereocilia. Mutations in the ...
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Differences in gene mutations according to gender among patients with colorectal cancer
... regarding gene mutations of BRAF, N-ras, and high status ...more gene muta- tions than males in terms of high status MSI and BRAF which has been suggested in previous ...
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Galactosialidosis: review and analysis of CTSA gene mutations
... CTSA gene mutations have been reported (HGMD professional ...splicing mutations, but no nonsense ...CTSA gene have been described, and at least three CTSA mRNA sequences have been deposited in ...
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Thrombophilia gene mutations in relation to recurrent miscarriage
... associated gene mutations and adverse obstetric outcome is controversial and data in the literature are ...associated gene mutations (factor V Leiden, prothrombin gene G20210A and ...
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Clinical potential of gene mutations in lung cancer
... [39]. Gene mutations and pro- tein expression can impact patient ...and mutations in exon 21 had a longer overall survival after treatment with gefitinib or erlotinib [7, ...
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Molecular Basis of Human CD36 Gene Mutations
... CD36 may play an important role in the pathogenesis of some metabolic dis- eases. The receptor is responsible for the removal of approximately 50% of oxida- tively modified LDL (ox-LDL) from plasma (10,31). Binding takes ...
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Protective protein gene mutations in galactosialidosis
... galactosialidosis patients with various phenotypic manifestations, and another mutation, 746T-->A (Y249N), in a patient of French-German origin with an atypical clinical course. Y395C was a common mutation in four ...
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KIT exon 11 and PDGFRA exon 18 gene mutations in gastric GIST: proposal of a short panel for predicting therapeutic response
... between gene, mutated exon, tumor location and prognostic factors (Dematteo et ...tumor mutations of KIT gene affect exon 11 (67–75%) and are related to poor ...Moreover, mutations in PDGFR Α ...
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CACNA1A gene mutations in familial hemiplegic migraine
... I1811L mutations, sustained neuronal firing due to an incorrect integration of (otherwise normal) neural stimuli may result in a relative decreased inactivation of cal- cium ...
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<em>IKBKAP/ELP1</em> gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
... the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the release of the human DNA ...disease-causing mutations were ...
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The frequency of NPM1 mutations in childhood acute myeloid leukemia
... genetic mutations, gene rearrangements and chromosomal translocations are involved in the pathogenesis of ...various gene mutations with prognostic relevance in AML, including activating ...
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Antibiotic Resistance of Helicobacter pylori Strains in Japanese Children
... rRNA gene were detected in 11 of 12 (92%) clarithromycin-resistant strains tested ...rdxA gene has been suggested because the PCR amplicon in metronida- zole-resistant strains with the mutational deletion ...
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Coat’s like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options
... CRB1 gene are one of the at least 17 known gene mutations that are accused to cause LCA, and CRB1 mutations are associated with variable phe- notypes of severe retinal dystrophies, ranging ...
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COMPARATIVE MUTAGENESIS OF THE DUMPY LOCUS IN DROSOPHILA MELANOGASTER. I. X-RAY TREATMENT OF MATURE SPERMFREQUENCY AND DISTRIBUTION
... And if the same ratio of about one-third to one-half holds for the incidence of induced mosaic gene mutations at the clot locus to the total of clot gene mutations, then the one [r] ...
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Key words
... comprises mutations in VHL and complex of SDHx ...KIF1Bβ gene mutations, is associated with translation initiation, protein synthesis and kinase ...
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A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population
... α-globin gene deletions detected in the individuals. Different α-globin gene mutations have been shown to be prevalent in Iran accounting up to 30%, 9 among them, α-globin gene deletions ...
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Increased Transmitter Release and Aberrant Synapse Morphology in a Drosophila Calmodulin Mutant
... generated mutations in the single Drosophila Calmodulin (Cam) gene and examined the effects of these mutations on behavior, synaptic transmission at the larval neuromuscular junction, and structure ...
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Advances in gene therapy technologies to treat retinitis pigmentosa
... the gene suffices to produce autosomal-dominant ...Dominant mutations may also lead to disease by causing the buildup of toxic ...simple gene-replacement therapy is often insufficient to overcome the ...
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