Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1757-z
Abstract: Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the… read more here.
Keywords: coffin siris; mutations individuals; swi snf; gene ... See more keywords
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh
Sign Up to like & getrecommendations! Published in 2023 at "Hemoglobin"
DOI: 10.1080/03630269.2023.2166526
Abstract: Abstract Hemoglobinopathies, including α- and β-thalassemias and sickle cell disease, are among the most widely disseminated hereditary blood disorders worldwide. Bangladesh is considered a hotspot for hemoglobinopathies, and these diseases cause a significant health concern… read more here.
Keywords: gene mutations; pcr based; hemoglobinopathies chattogram; globin gene ... See more keywords