25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
224 citations
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February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” ERG increases SOX9, promoting prostate cancer growth and invasion.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Rodent spiny hair traits are due to genetic factors other than the Edar gene.
51 citations
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September 2020 in “Nucleic Acids Research” The package helps analyze and interpret gene expression data by comparing it to a database of conditions.
26 citations
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January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” BBS7 is essential for healthy gums by supporting cell function and blood flow.
8 citations
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August 2014 in “Biochemical and Biophysical Research Communications” ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
February 2013 in “Journal of the American Academy of Dermatology” Certain gene variations might increase the risk of a hair loss condition in Koreans.
March 2018 in “Suez Canal University Medical Journal” NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
24 citations
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March 2022 in “Stem Cell Research & Therapy” Dendritic epidermal T cells help wounds heal faster by boosting skin stem cell growth.
41 citations
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January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
2 citations
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August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
July 2024 in “Journal of Investigative Dermatology” ATR04-484 ointment shows promise for treating skin issues from cancer therapies.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
March 2024 in “BMC cancer” High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.