PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
January 2000 in “Medical Entomology and Zoology” 37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
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November 1984 in “Journal of Investigative Dermatology” 29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
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October 2023 in “PROTOPLASMA” 92 citations
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May 2004 in “Journal of Investigative Dermatology”
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
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October 2015 in “Journal of Cutaneous Pathology” Erythematous papulopustular eruptions in cancer patients using EGFR inhibitors show specific skin changes that vary with severity and treatment type.
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
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January 1992 in “Journal of Investigative Dermatology” 3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
24 citations
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September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
47 citations
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January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
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December 1994 in “Journal of Investigative Dermatology”
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December 2009 in “Canadian Journal of Animal Science” The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.