8 citations
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July 2022 in “International Journal of Molecular Sciences” 17β-estradiol lowers polyamine oxidase levels in breast cancer cells through estrogen receptor 2.
1 citations
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December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
686 citations
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February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
February 2024 in “International Journal of Dermatology” The document concludes that more local research on African skin and hair is needed despite increased scientific output from Sub-Saharan Africa.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
135 citations
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March 2000 in “Journal of Biological Chemistry” Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
124 citations
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July 2017 in “eLife” Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development 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.
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.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
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.
1 citations
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
September 2025 in “Frontiers in Immunology” Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
9 citations
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March 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium concluded that understanding the molecular mechanisms of skin aging could lead to better clinical practices and treatments.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
March 2024 in “International journal of molecular sciences” Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
May 2023 in “Health science reports” Coloring shampoos for gray hair may cause gene mutation, reproductive issues, and skin damage, needing stricter regulation and expert consultation.
October 2022 in “Frontiers in Cell and Developmental Biology” Aging skin is affected by inflammation, reduced stem cell function, and slower wound healing.