نتایج جستجو برای: frameshift mutation
تعداد نتایج: 291994 فیلتر نتایج به سال:
We report on a young boy with neurodevelopmental disorder who is carrier of novel frameshift mutation in gene MAP7D3 (MAP7 domain containing 3) Xq26.3. The protein encoded by this belongs to the MAP7 (microtubuleassociated 7) family that proposed regulate kinesin-1 (KIF5B)-dependent intracellular transport, acting as Microtubule (MT)-tethered recruitment factors and activators kinesin [1-3]. An...
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...
BACKGROUND Multidrug-resistant Pseudomonas aeruginosa has emerged as one of the most important healthcare-associated pathogens. Colistin is regarded as the last-resort antibiotic for multidrug-resistant Gram-negative bacteria, but is associated with high rates of acute kidney injury. The aim of this in vitro study is to search for an alternative treatment to colistin for multidrug-resistant P. ...
It is generally accepted that longer microsatellites mutate more frequently in defective DNA mismatch repair (MMR) than shorter microsatellites. Indeed, we have previously observed that the A10 microsatellite of transforming growth factor beta type II receptor (TGFBR2) frameshifts -1 bp at a faster rate than the A8 microsatellite of activin type II receptor (ACVR2), although both genes become f...
We investigated the prognostic value of p53 mutation type for 145 soft tissue sarcoma patients. In a PCR-SSCP-sequencing analysis, 15 mutations were identified: 10 non-frameshift (non-fs) and 5 frameshift (fs) mutations. Patients possessing non-fs mutations had a significantly poorer prognosis than patients without p53 mutations (P = 0.014), according to Cox's multivariate analysis. In contrast...
Thrombotic microangiopathy (TMA) is a pathological lesion associated with broad range of underlying disorders. Although the kidney most frequently involved organ, kidney-limited or -predominant TMA not infrequently encountered1. In addition to common complement- and coagulation-associated gene mutations, there are still other unidentified genes in process.
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