September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
1 citations
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April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
30 citations
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April 2009 in “Mycoses” Microsporum gypseum fungus breaks down keratin in hair by digesting it enzymatically, starting with less keratinized parts.
79 citations
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
8 citations
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January 2016 in “Journal of fiber science and technology” Bleaching hair increases cysteic acid levels in a predictable way.
February 2011 in “Journal of Clinical Investigation” Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
1 citations
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March 2023 in “Journal of Natural Fibers” A gentler, less damaging method for curling hair using tyrosine works well initially but fades after washing.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
6 citations
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January 2018 in “Advances in experimental medicine and biology”
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
14 citations
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March 1987 in “Journal of Investigative Dermatology” September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
26 citations
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September 2013 in “Journal of Dermatological Science” Serum granulysin levels can indicate the activity and prognosis of alopecia areata.
6 citations
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February 1997 in “International Journal of Dermatology” Kaposi's sarcoma lesions might originate from benign tissue changes.
1 citations
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December 2025 in “International Journal of Molecular Sciences” Atelocollagen boosts collagen production and improves skin elasticity in aged skin.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.