نتایج جستجو برای: gene defect
تعداد نتایج: 1219432 فیلتر نتایج به سال:
Destruction of tooth support due to the chronic inflammatory disease periodontitis is a major cause of tooth loss. There are limitations with available treatment options to tissue engineer soft tissue periodontal defects. The exogenous application of growth factors (GFs) such as platelet-derived growth factor (PDGF) has shown promise to enhance oral and periodontal tissue regeneration. However,...
a new system is presented for the generation ofrecombinant bacillus subtilis strains without antibioticmarkers. this system is based on two plasmids constructed in escherichia coli. the first plasmid phm30contains an incomplete hisi gene, the last gene in thehistidine biosynthesis operon of b. subtilis and part ofthe genes yvca and yvcb of unkown function flankinghisi at the 3´-end. the spectin...
objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...
Background and purpose: Von Willebrand Disease (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown mutations in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes...
congenital left ventricular diverticulum is a rare cardiac malformation. two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. non-apical diverticula are always isolated defects. diagnosis is established by ...
OBJECTIVE Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder caused by mutations in the low density lipoprotein receptor (LDLR) gene. FH is characterized by elevated plasma LDL cholesterol, premature atherosclerosis, and a high risk of premature myocardial infarction. In general, mutations within LDLR gene can cause five different classes of defects, namely: class I ...
hearing loss (hl) is the most common sensory defect. various genetic as well as environmental factors have been shown to contribute in it. more than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (arnshl). here, we report a 6-year old female patient with bilateral pre-lingual hl in whom a mutation has been identified in triobp gene (c.6362c>t, s2121l). in s...
OBJECTIVES The goal of this study was to investigate the genotype-to-phenotype relationship between SCN5A gene mutation and progressive cardiac conduction defect in order to gain insights into the pathophysiologic mechanisms of the disease. BACKGROUND Progressive cardiac conduction defect is a frequent disease commonly attributed to degeneration and fibrosis of the His bundle and its branches...
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combi...
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