نتایج جستجو برای: point mutation
تعداد نتایج: 796715 فیلتر نتایج به سال:
The Rosenberg-Hastings paper (4) defends a model much like that of Foster (1) and argues that the observed mutagenesis contradicts predictions of the amplification model. On the contrary, amplification indirectly causes weak mutagenesis and allows that mutagenesis to have a detectable effect on lac reversion. However, this mutagenesis is a minor side effect that is neither sufficient nor necess...
Thousands of proteins need to do their job in the right places at the right time for any cell to function properly. Sometimes, gene mutation prevent one or more of these proteins from working properly. By change in gene instruction, in protein making, a mutation can cause the protein to malfunction or to be missing completely. This may cause severe medical conditions. Any kind of treatment requ...
Background: The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (PML-RARA) fusion gene may contribute to the acute promyelocytic leukemogenesis. Chromosomal alterations and mutation of FLT3 (FMS-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. However, the prognostic significance of FLT3 mutat...
background: non-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point mutations within sodium channel α-subunit (scn4a) gene. because exons 22 and 24 of scn4a gene are recognized as hot spots for this disease, the purpose of the study is to identify mutation in exons 22 and 24 of scn4a gene in iranian non-dystrophic myotonias p...
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...
background: poor ovarian response phenomenon has been observed in some of the in vitro fertilization-embryo transfer patients. some investigations found that follicle stimulating hormone receptor (fshr) gene plays a role in the process, but no direct evidence shows the correlation between genotypes of fshr and ovarian response. objective: exploring the molecular mechanism behind the mutation of...
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