نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
Background: Acute leukemia is the prevalent malignancy in pediatrics. One of the most important causing factors of acute lymphoblastic leukemia is mutations of proto oncogenes and their chang in to oncogenes. Activation of N-RAS proto-oncogene due to point mutations plays a major role in ALL malignancy. Since there was no report on the frequency of N-RAS gene mutation in Iranian pediatric AL...
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
Background: Beta thalassemia is a common inherited disease, resulting from one or more of 200 different mutations in the beta-globin gene. Qazvin province has attracted migrations of several different populations due to industrialization during the past five decades. The aim of this study was to define the molecular spectrum of beta-thalassemia mutations in Qazvin province. Methods: Ethylen dia...
Abstract Pancreatic acinar cells are a cell type of origin for pancreatic cancer that become progressively less sensitive to tumorigenesis induced by oncogenic Kras mutations after birth. This sensitivity is increased when combined with pancreatitis. Molecular mechanisms underlying these observations still largely unknown. To identify mechanisms, we generated the first CRISPR-edited mouse model...
BACKGROUND Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. OBJECTIVE To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-o...
Amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth. The present study aims to analyze functional missense mutations in AMEL-X genes and derive an association with amelogenesis imperfecta. The information on miss...
POEMS syndrome is a disease of unknown pathogenesis. The acronym stands for the disease’s main clinical manifestations: polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin disorders. Recent studies suggest association genetic mutations with immunoglobulin λ. We report case 56-year-old male patient 10-month picture, whose initial signs symptoms were lower limb edema hype...
The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...
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