11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
93 citations
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September 2014 in “Diabetes” Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
13 citations
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February 1995 in “Archives of Dermatological Research” Gamma/delta T cells help defend skin against heavy metals.
29 citations
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February 2018 in “European Journal of Immunology” Regulatory T cells are essential for normal and improved wound healing in mice.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
Retinoids can help treat skin pigmentation disorders by affecting melanin production.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
January 2023 in “Integrative Journal of Medical Sciences” A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
16 citations
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October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
134 citations
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January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
July 2020 in “Benha Medical Journal” People with severe Alopecia Areata have higher levels of TGF-β1, which may play a role in the condition.
195 citations
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November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
5 citations
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May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
2 citations
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April 2013 in “PubMed” Abnormal T-cells from thymomas cause non-motor symptoms in some myasthenia gravis patients.
24 citations
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March 2018 in “Experimental Dermatology” Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
IL-18 signaling helps mature Tregs move into the thymus.