This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
32 citations
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June 2003 in “The American Journal of Dermatopathology” This report describes the third known case of lipedematous scalp in a 51-year-old woman, marked by progressive thickening of the scalp without hair loss, and notes its association with early meningitis symptoms.
July 2025 in “Russian Journal of Transplantology and Artificial Organs” This research highlights advancements in reconstructive surgery for managing scars, emphasizing the importance of combined surgical and nonsurgical interventions like platelet-rich plasma and stem cell therapy to prevent and treat thick scar tissue while enhancing functionality and aesthetic outcomes.
20 citations
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January 2019 in “Frontiers of Hormone Research” This paper reviews the endocrinological aspects of hirsutism, focusing on the role of androgens in excessive hair growth and the related disorders, without presenting new findings.