39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
October 2021 in “Authorea (Authorea)” New hair perming method using tyrosine is gentler and can be done with a blow-dryer.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
44 citations
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June 2015 in “British Journal of Pharmacology” Betulinic acid can help treat hepatitis C by stopping virus replication.
January 2014 in “대한피부과학회지” A hepatitis B patient lost hair in patches after starting and stopping a treatment with pegylated interferon alpha2a.
10 citations
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February 2019 in “Journal of cellular physiology” TGF-β2 helps yak hair follicles enter the regression phase, while HSP70 tries to prevent it.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
1 citations
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November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
January 1999 in “Journal of Investigative Dermatology” 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.
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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.
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
3 citations
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October 2022 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” Adding L-glutamine to the diet of Hanwoo steers may boost their immune system and help them cope with heat.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
June 2025 in “Academic Medical Journal” High homocysteine levels in lupus may increase inflammation and cardiovascular risk.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
July 2022 in “Journal of Investigative Dermatology” Cyclohexyl salicylate promotes human hair growth and increases certain hair follicle stem cell progeny.
January 2000 in “Zhongguo yixue wulixue zazhi” Different human hair keratin types have unique structures that affect how they dissolve and can be used to create self-tendons.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
7 citations
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February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
8 citations
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October 2013 in “Chemistry Central Journal” Metabolite 7 is a strong inhibitor for Alzheimer's disease management.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.