Effect of Counting Genetic Variants on Precision Treatment for Pediatric Atopic Dermatitis: Do Count Your Chickens Before They Hatch.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2016.4468
Abstract: Atopic dermatitis (AD) is a common inflammatory skin disorder, and its prevalence in the pediatric population has tripled in the past several decades alone.1 Atopic dermatitis is characterized by xerotic or scaly patches of skin… read more here.
Keywords: flg lof; medicine; dermatology; treatment ... See more keywords
Predicting proprotein convertase subtilisin kexin type-9 loss of function mutations using plasma PCSK9 concentration.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2016.09.015
Abstract: BACKGROUND Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is through… read more here.
Keywords: plasma pcsk9; pcsk9 concentration; concentration; lof mutations ... See more keywords
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant
Sign Up to like & getrecommendations! Published in 2019 at "eNeuro"
DOI: 10.1523/eneuro.0046-19.2019
Abstract: Abstract Christianson syndrome (CS) is an X-linked neurogenetic disorder resulting from loss-of-function (LoF) mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). NHE6 regulates proton efflux from endosomes and, thus, participates in regulating… read more here.
Keywords: nhe6; lof mutations; vivo mouse; mouse ... See more keywords
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
DOI: 10.3390/biom12081030
Abstract: The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple functional domains with specific roles, and four of these RyR2… read more here.
Keywords: ca2 release; lof mutations; disease; ryr2 ... See more keywords