4 citations
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October 2023 in “Case Reports in Dermatology” Majocchi’s granuloma should be considered when rashes don't improve with typical treatments.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
1 citations
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September 2004 in “Experimental Dermatology” MC-1R is present in skin cells and may help reduce inflammation.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
2 citations
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December 2024 in “eLife” JAK inhibition reduces autoimmune issues in Down syndrome.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
April 2025 in “Journal of the Association for Research in Otolaryngology” NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
5 citations
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September 2023 in “Journal of Cosmetic Dermatology” c-Maf positive macrophages help form hypertrophic scars by affecting fibroblasts and collagen production.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers found three types of melanocytes in developing mouse skin, each with different genes and locations.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
822 citations
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January 2021 in “Genome biology” scMC effectively separates biological signals from technical noise in single-cell genomics data.
1 citations
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January 2024 in “Curēus” Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
May 2021 in “Indian journal of forensic medicine and toxicology” Two patients with heart issues had successful surgeries and improved symptoms.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
234 citations
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April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
July 2026 in “Pediatric Allergy and Immunology”
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
December 2018 in “Dermatologic Surgery” 2 citations
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September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
45 citations
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March 1998 in “Journal of the American Academy of Dermatology” Majocchi's granuloma can occur in kidney transplant patients on tacrolimus and can be treated with antifungal medication.
January 2026 in “Microorganisms” Bifidobacterium animalis subsp. lactis J12 helps reduce atopic dermatitis symptoms.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.