November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
November 2025 in “Journal of Investigative Dermatology” Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
Alpha-ketoglutaric acid may help treat aging and age-related diseases.
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July 2021 in “Endocrinology, diabetes & metabolism” Glioblastoma cells can make androgens, which might help the tumor grow.
Defective protein folding due to a mutation is key in ANE syndrome.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
April 2021 in “Research Square (Research Square)” N-acetylcysteine improved symptoms of trichotillomania and bulimia.
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July 1996 in “Human & Experimental Toxicology” Human enzymes can detoxify harmful substances but might also increase their cancer risk.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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February 1991 in “Journal of Biological Chemistry”
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
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March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
April 2024 in “Journal of microbiology and biotechnology” 62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
March 2021 in “Juniper Online Journal Material Science” Energy healing treatment improved L-cysteine's stability, solubility, bioavailability, and shelf-life.
March 2024 in “Plant physiology” GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
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November 2024 in “Biomedicine & Pharmacotherapy” The chitosan-peptide system helps cartilage regeneration using fat-derived cells.
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
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July 2022 in “Clinical and Experimental Dermatology” Amino acid supplements may not be necessary for all women with chronic hair loss.
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May 1990 in “Journal of the American Academy of Dermatology” Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.