Insight of fetal to adult hemoglobin switch: Genetic modulators and therapeutic targets.
Sign Up to like & getrecommendations! Published in 2021 at "Blood reviews"
DOI: 10.1016/j.blre.2021.100823
Abstract: The clinical heterogeneity of β-hemoglobinopathies is so variable that it prompted the researchers to identify the genetic modulators of these diseases. Though the primary modulator is the type of β-globin mutation which affects the degree… read more here.
Keywords: insight fetal; hemoglobin; therapeutic targets; genetic modulators ... See more keywords
Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx229
Abstract: TDP-43 is a critical RNA-binding factor associated with RNA metabolism. In the physiological state, maintaining normal TDP-43 protein levels is critical for proper physiological functions of the cells. As such, TDP-43 expression is tightly regulated… read more here.
Keywords: tdp production; drosophila model; production; genetic modulators ... See more keywords
Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0263469
Abstract: In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of involvement. It is difficult to establish… read more here.
Keywords: genetic modulators; modulators phenotypic; phenotypic heterogeneity; brugada syndrome ... See more keywords