July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
27 citations
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November 2021 in “Scientific Reports” Men are more affected by COVID-19 due to differences in immune responses and protein expression.
6 citations
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June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
3 citations
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September 2015 in “Journal of Vascular Surgery” Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
November 2024 in “Journal of Investigative Dermatology” Reducing neutrophils or inhibiting NETs improves wound healing in sickle cell disease.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.