44 citations
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May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
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October 2025 in “Cancer” PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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February 2007 in “Hormone and metabolic research” The substance MK386 effectively blocked testosterone conversion and reduced cell growth in certain skin cells, but inhibiting 5α-reductase alone may not greatly improve acne.
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
April 2024 in “Anais Brasileiros de Dermatologia” 32 citations
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March 2013 in “EMBO journal” The plant hormone auxin activates the TOR pathway, affecting gene expression related to growth and cell size.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
11 citations
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April 2019 in “International Journal of Molecular Sciences” Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
46 citations
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July 2010 in “Advances in Therapy” SPET-085 effectively inhibits an enzyme linked to prostate issues, similar to finasteride.
1 citations
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June 2023 in “The FASEB journal” LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.
55 citations
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March 2014 in “EMBO Reports” Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
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March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
November 2024 in “Journal of Investigative Dermatology” Secukinumab reduces immune activity in hidradenitis suppurativa skin.
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
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September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
October 2023 in “Journal of pharmaceutical investigation” Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
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March 2013 in “Journal of Lipid Research” The research explains how a human enzyme binds and processes its substrate, which could relate to its role in biological functions and hair loss.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
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November 2020 in “Journal of The American Academy of Dermatology” GSK-36 downregulation with UTMD improves plaque stability in atherosclerosis treatment.