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[HTML][HTML] KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf
Inherited channelopathies are a clinically and heritably heterogeneous group of disorders
that result from ion channel dysfunction. The aim of this study was to characterize the …
that result from ion channel dysfunction. The aim of this study was to characterize the …
[HTML][HTML] In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein …
The thrombopoietin receptor (MPL) gene is a critical regulator of hematopoiesis, and any
alterations in its structure or function can result in a range of hematological disorders. Non …
alterations in its structure or function can result in a range of hematological disorders. Non …
XGBMUT: Predicting the Functional Impact of Missense Mutations Using an Extreme Gradient Boost Classifier
Millions of new mutations have been discovered largely due to advancements in genome
projects, but characterizing their effects through traditional wet-lab experiments remains …
projects, but characterizing their effects through traditional wet-lab experiments remains …
[HTML][HTML] Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis
Different phenotypes of normal cells might influence genetic profiles, epigenetic profiles, and
tumorigenicities of their transformed derivatives. In this study, we investigate whether the …
tumorigenicities of their transformed derivatives. In this study, we investigate whether the …
Novel somatic mutations of the CDH1 gene associated with gastric cancer: prediction of pathogenicity using comprehensive in silico methods
Background: Mutations in the CDH1 and the role of E-cadherin proteins are well established
in gastric cancer. Several in silico tools are available to predict the pathogenicity of the …
in gastric cancer. Several in silico tools are available to predict the pathogenicity of the …
Computational prediction of nsSNPs effects on protein function and structure, a prioritization approach for further in vitro studies applied to bovine GSTP1
The development of high-throughput technologies in the last decade produced an
exponential increase in the amount of biological data available. The case of redox biology …
exponential increase in the amount of biological data available. The case of redox biology …
[HTML][HTML] Search Aggiornamenti in Medicina
AI Vickrey, R Bruders, Z Kronenberg, E Mackey… - aggiornamentimedicina.it
Gli uccelli e gli altri vertebrati mostrano una variazione sorprendente nel pattern di
pigmentazione, ma i geni che controllano questa diversità rimangono in gran parte …
pigmentazione, ma i geni che controllano questa diversità rimangono in gran parte …