April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
2 citations,
January 2018 in “Open journal of stomatology” Tongue cancer cells show more plectin-1 than non-cancer cells, but both have similar levels of trichohyalin.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
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November 2022 in “Journal of Investigative Dermatology” Neutrophils quickly respond to skin injury.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.