1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
December 2025 in “Current Issues in Molecular Biology” Cytarabine can cause multiple organ toxicities, especially neurotoxicity, but better research methods are needed to fully understand and predict these effects.
April 2025 in “Frontiers in Genetics” Combining genetic models helps improve heat tolerance in beef cattle.
February 2009 in “Journal of the American Academy of Dermatology” 85 citations
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January 1990 50 citations
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January 1981 Hair is mostly made of three protein types: helical, high-sulfur, and high-tyrosine.
22 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
54 citations
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January 2009 in “Development” β-catenin, Shh, and Bmp signaling control hair follicle development.
51 citations
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August 2012 in “Differentiation” Mouse genital development depends on male or female hormones for specific features.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
22 citations
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August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
22 citations
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July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
7 citations
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October 2022 in “Development” Overactive Wnt5a disrupts hair follicle orientation in mice.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
5 citations
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February 2015 in “Egyptian Journal of Ear Nose Throat and Allied Sciences” A rare benign cheek tumor was successfully removed from a 15-year-old girl without complications or recurrence.
4 citations
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December 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
1 citations
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April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
July 2025 in “International Journal of Trichology” Trichoscopy effectively diagnoses temporal triangular alopecia in children.
May 2025 in “Frontiers in Pharmacology” New treatments are needed for non-scarring alopecia due to current limitations.
May 2005 in “Journal of the American Academy of Dermatology” 83 citations
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January 2023 in “Development” Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
9 citations
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September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
6 citations
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April 2024 in “Journal of Investigative Dermatology” CRISPR-based tools improve understanding and treatment of skin development and conditions.
5 citations
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May 2023 in “Frontiers in Cell and Developmental Biology” Integrin α6 helps identify different neural crest cell types in the skin.