June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
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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.
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January 2025 in “The Journal of Cell Biology” Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
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January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
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July 2020 in “Aging” The protein EZH2 blocks microRNA-22, increasing STK40 protein, which helps hair follicle stem cells change and grow hair.
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5 citations
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January 2015 in “Molecular Genetics and Metabolism”
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July 2018 in “Current Pharmaceutical Design” HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
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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.
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February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
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May 2022 in “Research Square (Research Square)” KGF-1 135 is a stable and effective alternative for treating oral mucositis.
April 2018 in “Journal of Investigative Dermatology” STIM1 is essential for sweat secretion.
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
February 2025 in “Iraqi Journal of Science” PCOS patients have higher LDH and lower cortisol, dopamine, zinc, and vitamin D3, which may contribute to their symptoms and obesity.
May 2018 in “The Journal of Immunology” A(1-7) treatment reduces symptoms of lupus in mice.
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August 2007 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Sheep wool follicles absorb different amino acids at various rates and locations, which could affect wool growth based on diet and genetics.
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
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June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
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January 2025 in “动物学研究” YAP1 helps fat cell formation by influencing the Hippo pathway.
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.