نتایج جستجو برای: rare mutation
تعداد نتایج: 516877 فیلتر نتایج به سال:
Introduction: Recent molecular studies on Iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. Although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. We detected and explained the common mutations in north-western Iran previously and detection of the ra...
chédiak-higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. the affected subjects have light-colored hair, vision problems, blood clotting (coagulation) abnormalities and in adulthood varying neurologic disorders. recurrent infections, particularly viral infection with other disorders in childhood are us...
Cumin is an important spice that has been used for centuries in various cuisines around the world. Two cumin varieties (GC 3 and GC 4) were subjected to mutation understand macromutational modifications. Ethyl methane sulphonate (EMS) @ 0.6% gamma rays (190 Gy) significantly reduced germination plant survival percentage as compared 0.2% EMS 130 Gy. Physical mutagens showed higher suravival than...
Here, we report a case of splenic artery aneurysm rupture in patient with known heterozygosity mutation the ACTN2 gene (variant c.971G > A p.Arg324Gln). The came to our emergency department epigastric pain radiating lumbar area, an absence peritonism signs. An abdominal computed tomography angiography showed ruptured huge (5 cm) aneurysm. Therefore, underwent endovascular coil embolization c...
Oligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in Parkinson's (PD) by assessing the potential burden of additional rare variants in established Mendelian genes and/or GBA, in individuals with and without a primary pathogenic genetic cause in two large independent cohorts totaling 7,900 PD cases and 6,166 controls. An exce...
The MSH2*1906GRC mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in easter...
Bacterial mutation rates can increase and produce genetic novelty, as shown by in vitro and in silico experiments. Despite the cost due to a heavy deleterious mutation load, mutator alleles, which increase the mutation rate, can spread in asexual populations during adaptation because they remain associated with the rare favorable mutations they generate. This indirect selection for a genetic sy...
BACKGROUND Inherited cardiac conduction diseases (CCD) are rare but are caused by mutations in a myriad of genes. Recently, whole-exome sequencing has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. OBJECTIVE To investigate the genetic background of a family affected by inherited CCD. METHODS AND RESULTS We used whole-exome sequencing to stu...
1 Rare stochastic mutations may accumulate during dormancy of stem-like cells, but technical 2 limitations in DNA sequencing have limited exploring this possibility. In this study, we 3 employed a recently established deep sequencing method termed Duplex Sequencing to conduct 4 a genome-wide analysis of mitochondrial (mt) DNA mutations in a human breast stem cell 5 model that recapitulates the ...
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that mor...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید