A deleterious recessive mutation in NUAK2 causes absence of brain in humans
Sign Up to like & getrecommendations! Published in 2017 at "Mechanisms of Development"
DOI: 10.1016/j.mod.2017.04.025
Abstract: Hirschsprung disease (HSCR) is a complex developmental disorder characterised by the lack of enteric neurons in distal portions of the gut. Importantly, HSCR presents a dramatic sex bias with at least 4 times more males… read more here.
Keywords: deleterious recessive; sex bias; recessive mutation; sex ... 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