24 citations
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February 2022 in “Journal of Biological Chemistry” Carvacrol activates the TRPV3 channel, which may help design new skin treatments.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
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.
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.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
October 2025 in “International Journal of Molecular Sciences” Stem cells have great potential for treating various medical conditions.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
209 citations
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October 2008 in “The Journal of Pathology” Stem cell niches are essential for tissue health and repair.
122 citations
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January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
2 citations
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August 2006 in “Journal of Dermatological Science” Automated image analysis helps diagnose and monitor alopecia areata by efficiently measuring hair follicles.
June 2023 in “Pharmaceuticals” Men and women respond differently to drugs for COVID-19, high cholesterol, and diabetes, which suggests a need for personalized treatments.
177 citations
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March 2018 in “International Journal of Molecular Sciences” mTOR inhibitors may help treat lung fibrosis.
14 citations
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February 2024 in “Biomolecules” TRPV channels are important in osteoarthritis and could be key to new treatments.
2 citations
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December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
2 citations
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November 2023 in “Biomolecules” WNT signaling is crucial for skin development and healing.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
23 citations
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May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
56 citations
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January 2023 in “Genes & Diseases” Repurposing existing drugs and using micronutrients may effectively target cancer stem cells and improve cancer treatment.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
74 citations
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September 1980 in “Medical Clinics of North America” Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.