Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

@article{Cabral2010HomozygousMI,
  title={Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.},
  author={R. M. Cabral and Lu Liu and Carol Hogan and Patricia J C Dopping-Hepenstal and Beatriz C. Winik and Ra{\'u}l A Asial and Richard Dobson and Charles A. Mein and Patricia A Baselaga and Jemima E Mellerio and Arti Nanda and Mar{\'i}a del Carmen Boente and David P Kelsell and J A McGrath and Andrew P South},
  journal={The Journal of investigative dermatology},
  year={2010},
  volume={130 6},
  pages={1543-50}
}
Desmosomes are intercellular adhesive junctions and attachment sites for the intermediate filament (IF) cytoskeleton, prominent in tissues subject to high levels of mechanical stress such as the epidermis and heart. The obligate desmosomal constituent, plakoglobin (PG), is involved in coupling transmembrane desmosomal components with IFs. PG also contributes to intercellular adhesion through adherens junctions and has additional signaling roles. To date, two mutations in the gene encoding PG… CONTINUE READING

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