Gene Targeted Mice with Conditional Knock-In (-Out) of NMDAR Mutations.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7321-7_11
Abstract: For the genetic alterations of NMDA receptor (NMDAR) properties like Ca2+-permeability or voltage-dependent gating in mice and for the experimental analysis of nonsense or missense mutations that were identified in human patients, single nucleotide mutations… read more here.
Keywords: gene targeted; nmdar; nmdar mutations; targeting vector ... See more keywords
Heterozygosity for cervid S138N polymorphism results in subclinical CWD in gene-targeted mice and progressive inhibition of prion conversion
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2221060120
Abstract: Significance Amino acid substitutions within the cervid prion protein (PrP) can decrease susceptibility to chronic wasting disease, generally with more prominent effects in homozygous animals. Using novel gene-targeted mouse models expressing S138N reindeer/caribou PrP, we… read more here.
Keywords: gene targeted; prion; prp; conversion ... See more keywords
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
Sign Up to like & getrecommendations! Published in 2017 at "International heart journal"
DOI: 10.1536/ihj.16-133
Abstract: Long QT syndrome (LQTS) has great genetic heterogeneity: more than 500 mutations have been described in several genes. Despite many advances, a genetic diagnosis still cannot be established in 25-30% of patients. The aim of… read more here.
Keywords: russian families; gene targeted; analysis; targeted analysis ... See more keywords