October 2021 in “QJM: An International Journal of Medicine” Vitiligo patients have higher hydrogen peroxide levels and lower E-cadherin, affecting skin cell adhesion and pigmentation.
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September 2021 in “Antimicrobial Agents and Chemotherapy” Olorofim effectively treats fungal skin infections.
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
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September 2000 in “Journal of Medicinal Chemistry” Benzo[c]quinolizin-3-ones are effective nonsteroidal inhibitors of human steroid 5α-reductase 1.
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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
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December 1999 in “International Journal of Dermatology” Dihydroxyacetone in self-tanning lotion helped reduce sun-related skin issues in a woman with variegate porphyria.
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October 1975 in “Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis” 612 citations
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February 2004 in “Nature” OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
Defective protein folding due to a mutation is key in ANE syndrome.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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May 1988 in “Journal of Molecular Evolution”
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August 2007 in “Bioorganic & medicinal chemistry letters” A new compound effectively inhibits human 5α-reductase 1.
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January 2014 in “RSC Advances” A new, less toxic and more efficient method to create the anti-baldness compound RU58841 was developed in 2014.
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September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
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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.
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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.
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June 1976 in “Journal of Investigative Dermatology” 10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
July 2024 in “Journal of Investigative Dermatology” May 2026 in “Free Radical Biology and Medicine”
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September 2015 in “Journal of Medicinal Chemistry” The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.