A Novel Variant of Desmoplakin Is Potentially Associated with Silicosis Risk.
Sign Up to like & getrecommendations! Published in 2018 at "DNA and cell biology"
DOI: 10.1089/dna.2018.4370
Abstract: Two genome-wide association studies and one sequencing study have coincidently reported significant associations of single nucleotide polymorphisms (SNPs) in the desmoplakin (DSP) gene with the risk of pulmonary fibrosis (mainly idiopathic pulmonary fibrosis). However, these… read more here.
Keywords: risk; silicosis risk; silicosis; pulmonary fibrosis ... See more keywords
A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle‐specific intermediate filament desmin
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Dermatology"
DOI: 10.1111/bjd.16832
Abstract: Desmoplakin (DSP) is a cytolinker of the plakin family. It mediates the connection of intermediate filaments (IFs) to desmosomes, intercellular adhesion junctions. The carboxyl (C)-terminal tail of DSP binds to IFs, while its amino-terminal part… read more here.
Keywords: gene linked; recessive mutation; linked cardiomyopathy; mutation dsp ... See more keywords