4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
8 citations
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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
November 2024 in “Journal of Investigative Dermatology” Reducing neutrophils or inhibiting NETs improves wound healing in sickle cell disease.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
1 citations
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January 2025 in “Therapeutic Advances in Drug Safety” Antituberculosis drugs can cause severe skin reactions, requiring careful diagnosis and treatment.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
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.
10 citations
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April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
28 citations
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August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
1 citations
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July 2025 in “Cancer Medicine” Colorectal cancer cells can adapt without losing their traits or drug sensitivity.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” EGM2 and SOX2 help form beige adipocytes by maintaining ASC immaturity and activating brown adipocytes.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
108 citations
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April 2004 in “Medicinal Research Reviews” Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.
42 citations
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January 2002 in “Skin Pharmacology and Physiology” Reconstructed skin models are useful for studying how skin processes certain chemicals.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.