نتایج جستجو برای: ivs4
تعداد نتایج: 128 فیلتر نتایج به سال:
BACKGROUND In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patients with left ventricular hypertrophy and this mutation METHODS AND RESULTS...
Abstract Background: Inactivation of tumor suppressor genes can cause irreversible uncontrolled growth. PTEN is a tumor suppressor gene and its polymorphism (IVS4) role in breast cancer was investigated in this study. Methods: Forty nine female subjects with confirmed breast cancer comprised the case group and 43 healthy women participated as a control group in this study. The PTEN polymor...
BACKGROUND AND PURPOSE Different mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported in approximately 10% of cases of familial amyotrophic lateral sclerosis (ALS). The aim of this study was to analyze for mutations in the SOD1 gene and clinical characteristics in Korean family of ALS. METHODS A subpopulation of the family reported here has been described previously. I...
چکیده سابقه و هدف: غیر فعال شدن ژن های سرکوبگر توموری نظیر ژن pten (phosphatase and tensin homologue) به دلیل موتاسیون و یا پلی مرفیسم سبب رشد کنترل نشده و غیر قابل برگشت می شود. در این مطالعه، ارتباط پلی مرفیسم ivs4 (intron vector splicing 4) ژن pten در سرطان پستان زنان مراجعه کننده به بیمارستان شهدای تجریش در سال 1385 بررسی شد. روش بررسی: در این مطالعه مورد-شاهدی، 49 داوطلب زن با سرطان تایید ...
We examined whether common single nucleotide polymorphisms (SNP) in SULT1A1 (c.779G>A, *14A>G, and *85C>T) and SULT1E1 (IVS1-447C>A, IVS4-1653T>C, and *959G>A) genes influenced the risk and survival of breast cancer. Our study population consisted of 989 histologically confirmed sporadic breast cancer patients and 1,054 controls without history of cancer recruited from three teaching hospitals ...
PTEN (phosphatase and tensin homologue), as a tumor suppressor gene, plays a significant role in regulating cell growth, proliferation, and apoptosis. Results from published studies for association between the PTEN IVS4 I/D (rs3830675) polymorphism and cancer risk are inconsistent and inconclusive. We therefore conducted a meta-analysis to evaluate the potential association between PTEN IVS4 I/...
BACKGROUND Cell cycle checkpoint regulation is crucial for prevention of tumor in mammalian cells. Cyclin-dependant kinase 4 (CDK4) is important in cell cycle regulation, as it controls the G1-S phase of the cell cycle. CDK4 has potential mitogenic properties through phosphorylation of target proteins. We aimed at identifying a role of CDK4 IVS4-nt40 G-->A gene variant in benign and/or malignan...
RATIONALE A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement treatment (ERT) remain unknown. OBJECTIVE Using FC patients carrying IVS4+919 G>A mutation, we construct...
BACKGROUND Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed. METHODS AND RESULTS To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns were screened by assaying the alpha-galactosidase A (alpha-Gal A) activity using dry blood spots. Low p...
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