26 citations
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May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
25 citations
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October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
9 citations
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September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
6 citations
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August 2023 in “Journal of Investigative Dermatology” Skin plays a key role in managing iron levels, and inflammation can affect systemic iron, potentially causing anemia.
4 citations
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December 2020 in “Tissue Barriers” Loricrin affects skin immune function and homeostasis.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
100 citations
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May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
61 citations
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January 2011 in “PloS one” Notch signaling is essential for healthy skin and hair follicle maintenance.
375 citations
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June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
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.
165 citations
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January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
61 citations
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October 2011 in “Experimental dermatology” Scalp itching is common and hard to diagnose due to the complex nerve structure of the scalp.
51 citations
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August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
26 citations
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July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
25 citations
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March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
24 citations
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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
23 citations
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December 2021 in “Frontiers in Immunology” IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
22 citations
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August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
11 citations
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November 1998 in “Journal of dermatological science” Knocking out certain genes in mice helps understand skin and hair growth problems.
9 citations
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January 2023 in “Langmuir” Solubility in skin changes with hydration, affecting chemical absorption.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
December 2024 in “Journal of Investigative Dermatology” The conference highlighted new treatments and research in pediatric skin conditions, emphasizing collaboration and innovation.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.