89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
2 citations
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August 2016 in “Journal of Investigative Dermatology”
April 2017 in “Journal of Investigative Dermatology” Researchers improved a method to study individual cells in newborn mouse skin and found a way to assess the severity of a skin condition in humans.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
1 citations
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August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
4 citations
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December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
18 citations
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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.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
March 2026 in “Journal of Investigative Dermatology” November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
372 citations
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December 2004 in “Nature Genetics”
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
4 citations
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March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
April 2023 in “Journal of Investigative Dermatology” The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.