303 citations
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October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
5 citations
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January 2016 in “International Journal of Trichology” Erlotinib can cause hair loss and texture changes.
April 2019 in “Journal of Investigative Dermatology” Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
21 citations
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December 1994 in “Journal of Investigative Dermatology” 31 citations
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October 2019 in “Genes & Diseases” Basal cell carcinomas and squamous cell carcinomas have different gene activity patterns, suggesting unique treatment approaches.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
5 citations
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June 2008 in “British Journal of Dermatology”
59 citations
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April 2016 in “Cell Reports” EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
April 2019 in “Journal of Investigative Dermatology” Y27632 increases cell growth through EGFR signaling, not ROCK1/2.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
3 citations
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April 2012 in “Cancer research” Mouse skin cancer progression involves a unique group of cells marked by ABCG2 and MTS24.
11 citations
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September 2021 in “Journal of molecular endocrinology” ERβ has potential in treating prostate cancer and neurodegenerative diseases, but human studies are needed before clinical use.
January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
37 citations
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April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
15 citations
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October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Erlotinib causes skin inflammation through IL-1, which can be reduced by anakinra.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
25 citations
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January 2011 in “Annals of Dermatology” Erlotinib can cause hair loss as a side effect.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.