نتایج جستجو برای: frameshift mutations
تعداد نتایج: 174767 فیلتر نتایج به سال:
Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular fibrill...
Chronic lymphocytic leukemia (CLL) is known as type of originating from clonal mature B lymphocytes and has genetic heterogeneity. Many studies have been done to clarify the genome CLL. In these studies, del(13q) reported most common chromosomal aberration. Although this anomaly associated with good prognosis when isolated, patients clinical addition, in many gene mutations including TP53, NOTC...
Background: DNA hypermethylation and instability due to inactivation mutations in Ten–eleven translocation 2 (TET2) is a key biomarker of hematological malignancies. This study aims at characterizing two intronic noncanonical splice-site variants, c.3954+5_3954+8delGTTT c.3954+5G>A. Methods: We used silico prediction tools, reverse transcription (RT)-PCR, Sanger sequencing on blood/bone marrow-...
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Several new types of suppressor mutants have been isolated. These were identified among revertants of mutants originally generated by mutagens other than the acridine-derived ICR191. The new suppressors correct mutations other than those with runs of C or G which are recognized by the previously described suppressors. Several frameshift mutations are corrected by more than one suppressor type. ...
The present report is a study of GO intragenic suppressors located in the A or E group of the b2 spore-color locus of Ascobolus immersus. The frameshift nature of the suppressors was shown by 19 combinations of plus and minus suppressor mutations. The location of the mutation sites on the genetic map of group A was defined. The conversion pattern ofi the frameshift suppressors is discussed acco...
Functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT). All but one mutation altered a restriction site in the URO-D gene, permitting identification of affected relatives using a combination of polymerase chain rea...
Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling through binding of Fas ligand. Mutation of the Fas gene results in accumulation of lymphoid cells and thus might contribute to lymphomagenesis. Thyroid lymphoma (TL) is supposed to arise from active lymphoid cells formed in the preceding autoimmune chronic lymphocytic thyroiditis (CLTH). We examined the open reading fr...
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