نتایج جستجو برای: gene defect
تعداد نتایج: 1219432 فیلتر نتایج به سال:
fixed myocardial defects in both stress and rest images, could be artifactual as a result of soft tissue attenuation. to increase specificity and identify the false positive results, we used gated technique to evaluate the wall motion and wall thickening as an index to differentiate real ischemic lesions from artifactual defects. 93 patients were studied. in 46 patients (48.8%) fixed perfusion ...
Background: Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system with presumed autoimmune origin. T cells are considered to play a pivotal role in orchestrating the self-reactive immune responses in multiple sclerosis (MS). This study was performed to investigate the role of polymorphisms of the programmed cell death 1 (PD-1) gene on susceptibili...
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismat...
by employing the theoretical method based on tight-binding, we study electronic band structure of single-wall carbon nanotube (cnt) superlattices, which the system is the made of the junction between the zigzag and armchair carbon nanotubes. exactly at the place of connection, it is appeared the pentagon–heptagon pairs as topological defect in carbon hexagonal network. the calculations are base...
background: there is some evidence indicating improvement in myocardial performance after atrial septal defect closure, either device closure or surgical, but ventricular dyssynchrony has not been evaluated before and after surgical closure. the aim of this study was to evaluate ventricular mechanical dyssynchrony in patients with atrial septal defect before and after surgical closure. methods:...
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations. We studied 24 Italian and 17 Portuguese patients with cblC defect to illustrate the spectrum of mutations in a southern European population and discuss the imp...
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
The stem cell leukemia (SCL) gene is essential for the development of hematopoietic stem cells in the embryo. Here, we used a conditional gene targeting approach to examine the function of SCL in adult hematopoietic stem cells (HSCs). Flow cytometry of bone marrow from SCL-deleted mice demonstrated a 4-fold increase in number of Lin(neg) c-kit(+) Sca-1(+) cells. Despite this increase in the num...
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