نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
Autophagy is a natural cellular mechanism in which components such as long-lived proteins and damaged organelles are degraded response to starvation by forming autophagosomes. Viruses activate the autophagy process, generates innate immune protection host against infection. While actual molecular of this contagious viral infection remains unknown, studies on some other betacoronavirus show that...
Abstract Background Breast cancer is the most common cause of in women affecting 1 7 UK. Hereditary breast cancers are present up to 10% all cases and commonly related BRCA gene mutations. Bilateral risk reducing mastectomy (RRM) +/- reconstruction effective strategy mortality risk. Reconstruction options can be classified into immediate vs delayed autologous alloplastic reconstruction. Complet...
BACKGROUND Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes a sudden increase in body temperature after exposure to common anesthetic agents. The disease is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of...
Byzantine fault-tolerant algorithms promise agreement on a correct value, even if subset of processes can deviate from the algorithm arbitrarily. While these provide strong guarantees in theory, practice, protocol bugs and implementation mistakes may still cause them to go wrong. This paper introduces ByzzFuzz, simple yet effective method for automatically finding errors implementations through...
Cancer research would greatly benefit from technologies that allow simultaneous screening of several unknown gene mutations. Lack of such methods currently hampers the large-scale detection of genetic alterations in complex DNA samples. We present a novel mismatch-capture methodology for the highly efficient isolation and amplification of mutation-containing DNA from diverse nucleic acid fragme...
Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by excessive trabeculation of the left ventricle. To date, mutations in more than 40 genes have been associated with LVNC, however exact mechanisms underlying disease remain unknown. Here, we describe an induced pluripotent stem cell (iPSC) line (UALGi001-A) from a LVNC patient (LVNC-iPSC) that does not present most commonly ...
Buruli ulcer disease is a neglected necrotizing and disabling cutaneous tropical illness caused by Mycobacterium ulcerans (Mul). Fluoroquinolone (FQ), used in the treatment of this disease, has been known to act inhibiting enzymatic activities DNA gyrase; however, detailed molecular basis these characteristics FQ resistance mechanisms Mul remains unknown. In study investigated mechanism gyrase ...
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