39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
4 citations
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October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
232 citations
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July 1995 in “Nature Genetics”
23 citations
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March 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” ATP increases melanin production in skin after UV exposure, with the P2X7 receptor being crucial for this process.
BMD-1141 effectively regrows hair in alopecia areata with less frequent dosing than current treatments.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
April 2023 in “Journal of Investigative Dermatology” SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
101 citations
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
147 citations
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September 2006 in “Developmental Cell” Too much Smad7 changes skin and hair development by breaking down a protein called β-catenin, leading to more oil glands and fewer hair follicles.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
67 citations
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December 2011 in “Stem Cells and Development” NADPH oxidase 4 is key for stem cell activity and growth under low oxygen.
77 citations
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January 1980 in “Carcinogenesis” TPA is about 50 times more effective at promoting tumors than MZ.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
Erythropoietin overexpression disrupts hair growth and fat formation in mice.
324 citations
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May 2002 in “Oncogene”
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
April 2026 in “Research Square”
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.