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June 2000 in “Modern Pathology” Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
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June 2005 in “Genes & development” β-catenin is essential for stem cell activation and proliferation in hair follicles.
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
March 2025 in “Laboratory Investigation” Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
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January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
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February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
January 2017 in “Elsevier eBooks” Antioxidants may help improve mitochondrial health and could be used to treat diseases related to cell damage.
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
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December 2025 in “Stem Cell Research & Therapy” Mesenchymal stem cells help heal wounds by using Cx43 hemichannels to improve tissue repair.
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
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June 2011 in “American Journal of Dermatopathology” Molluscum contagiosum can occur in epidermoid cysts, especially with prolonged steroid use.
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February 2009 in “Cell and tissue biology” 91 citations
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May 1972 in “Journal of Biological Chemistry” Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
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January 2014 in “Journal of Cutaneous and Aesthetic Surgery” A woman had 13 non-cancerous cysts on her scalp successfully removed in one surgery.
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April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
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