Reclassification of genetic variants in children with long QT syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1300
Abstract: Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed… read more here.
Keywords: reclassification genetic; long syndrome; genetic variants; children long ... See more keywords
Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series
Sign Up to like & getrecommendations! Published in 2021 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2021.103355
Abstract: Background There is increasing concern that persistent infection of SARS-CoV-2 within immunocompromised hosts could serve as a reservoir for mutation accumulation and subsequent emergence of novel strains with the potential to evade immune responses. Methods… read more here.
Keywords: viral variants; infection; immune escape; sars cov ... See more keywords
How Genetic Variants in Children with Familial Hypercholesterolemia Not Only Guide Detection, but Also Treatment
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030669
Abstract: Familial hypercholesterolemia (FH) is a hereditary disorder that causes severely elevated low-density lipoprotein (LDL-C) levels, which leads to an increased risk for premature cardiovascular disease. A variety of genetic variants can cause FH, namely variants… read more here.
Keywords: genetic variants; ldl; familial hypercholesterolemia; variants children ... See more keywords