[HTML][HTML] KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf

JGP Jacinto, IM Häfliger, EE Akyürek, R Sacchetto… - Genes, 2021‏ - mdpi.com
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 …

[HTML][HTML] In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein …

HH Al-Nakhle, HS Yagoub, SH Anbarkhan… - Current Issues in …, 2023‏ - mdpi.com
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 …

XGBMUT: Predicting the Functional Impact of Missense Mutations Using an Extreme Gradient Boost Classifier

GRC Pereira, LMA Da Conceição… - ACS …, 2025‏ - ACS Publications
Millions of new mutations have been discovered largely due to advancements in genome
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

S Kwon, SS Kim, HE Nebeck, EH Ahn - International journal of molecular …, 2019‏ - mdpi.com
Different phenotypes of normal cells might influence genetic profiles, epigenetic profiles, and
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

P Chakraborty, S Ghatak, RP Yadav… - Current …, 2020‏ - benthamdirect.com
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 …

Computational prediction of nsSNPs effects on protein function and structure, a prioritization approach for further in vitro studies applied to bovine GSTP1

AH Falomir-Lockhart, EE Villegas-Castagnaso… - Free Radical Biology …, 2018‏ - Elsevier
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 …

[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 …