409 citations
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May 1991 in “Genes & Development” TGF-alpha affects skin thickness, hair growth, and may contribute to psoriasis and papilloma formation.
April 2024 in “Anais Brasileiros de Dermatologia” 28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
June 2025 in “British Journal of Dermatology” Tofacitinib was more effective than methotrexate for treating alopecia areata.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
May 2025 in “JEADV Clinical Practice” Tofacitinib and methotrexate successfully treated a woman's severe skin, joint, and hair loss issues.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
188 citations
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October 2014 in “Thyroid” Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.
9 citations
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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.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
The naked mutation in mice causes hair loss and helps identify keratin genes.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
November 2025 in “Cancer Cell International” Cancer-associated fibroblasts promote tumor growth in skin cancer.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
January 2010 in “Zhongguo xiandai yixue/Zhongguo xiandai yixue zazhi” TGF-β1 and TNF-α contribute to lung damage after radiation.
207 citations
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July 2006 in “Development” MTS24 marks a new type of skin cell that helps hair growth and repair.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
January 2022 in “Figshare” lncRNA MTC helps goat skin cells grow and may aid hair growth by controlling proteins linked to cell growth.
November 2025 in “Journal of Investigative Dermatology” TEC kinases may help cause inflammation in vitiligo and could be targeted for treatment.
7 citations
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May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
46 citations
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September 2007 in “Journal of Investigative Dermatology”