2 citations
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August 2023 in “Autophagy” Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
45 citations
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August 2018 in “Journal of Lipid Research” Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.
1 citations
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September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
63 citations
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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
318 citations
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January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
43 citations
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April 2010 in “Developmental Biology” Sebaceous glands can form new hair follicles when activated, but hair follicle bulges cannot.
5 citations
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September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
4 citations
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December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
77 citations
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September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
January 2026 in “Experimental Dermatology” Keratinocytes contribute to hidradenitis suppurativa by causing inflammation and worsening the condition.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
11 citations
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January 2025 in “Regenerative Therapy” Tissue-engineered scaffolds help heal difficult wounds by supporting cell growth and repair.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
December 2024 in “Antioxidants” Luteolin can reduce hair graying in mice, with external treatment being more effective.
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.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
75 citations
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September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
8 citations
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January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
5 citations
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January 2020
4 citations
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December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
2 citations
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February 2025 in “International Journal of Molecular Sciences” Key proteins and pathways regulate yak hair growth, with lipid metabolism aiding adaptation to high altitudes.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.