نتایج جستجو برای: missense mutation
تعداد نتایج: 293819 فیلتر نتایج به سال:
Abstract Introduction Hereditary diffuse gastric cancer is an autosomal inherited syndrome associated with the E-cadherin germline mutations. Different types of CDH1 germline mutations have been reported; the missense alterations are rarely identified when compared with truncating mutations. The identification of missense mutation represents a clinical burden, since its pathogenicity is still u...
molecular screening of r117h mutation in non caucasian cystic fibrosis patients in the north of iran
cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...
background: mucopolysaccharidosis type-vi (mps-vi), which is inherited as an autosomal recessive trait, results from the deficiency of n-acetylgalactosamine 4-sulfatase (arylsulfatase b) activity and the lysosomal accumulation of dermatan sulfate. in this study, arsb mutation analysis was performed on three unrelated patients who were originally from the west azerbaijan province of iran. method...
Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematicall...
The translocation between chromosomes 15 and 17 t(15;17) at the promyelocytic leukemia (PML) retinoic acid receptor alpha (RARA) is thought to be specific for acute (APL). We present a case of with evidence by banding karyotype, FISH, PCR, rare microgranular promyelocytes significant basophilia detected on marrow aspirate, an ETV6 missense mutation molecular diagnostic testing. patient underwen...
BACKGROUND High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. METHODS AND RESULTS Here we combine whole genome sequencing with linkage analysis in a 3-generatio...
Introduction: P53 is a tumor suppressor protein with numerous missense mutations identified in its gene. These mutations are observed in a vast number of cancers. R213G is one of them which has a role in metastatic lung cancers. In this research, R213G was studied in comparison with the wild type via molecular dynamics simulation. Method: For the three-dimensional structure of the wild-type P53...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year. Materials and Methods In the present study, a two-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suf...
BACKGROUND In hereditary non-polyposis colorectal cancer, over 90% of the identified mutations are in two genes, hMSH2 and hMLH1. A large proportion of the mutations detected in these genes are of the missense type which may be either deleterious mutations or harmless polymorphisms. AIM To investigate whether nine missense and one splice site mutation of hMLH1 and hMSH2, in 10 kindreds with a...
BACKGROUND Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity between BMPR2 mutation carriers and noncarriers, it is likely disease severity is not equal among BMPR2 mutations. We hypothesized that patien...
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