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April 2001 in “Current Biology” c-Myc activation in mouse skin increases sebaceous gland growth and affects hair follicle development.
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
April 2023 in “Digital Library of Theses and Dissertations (Universidade de São Paulo)” Mesenchymal stem cells from laser-assisted liposuction are as effective and safe as those from conventional liposuction for cell therapy.
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.
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August 2016 in “Dermatology - Open Journal” Mitochondria change shape to meet energy needs during cell movement.
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There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
Mesenchymal stem cells from laser-assisted liposuction are as effective and safe as those from conventional methods for cell therapy.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
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August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
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February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
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January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
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September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
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September 2007 in “Neuromuscular disorders” The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.