27 citations
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October 2011 in “British Journal of Dermatology” ESR2 gene variations may be linked to female pattern hair loss.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
44 citations
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February 2021 in “Scientific Reports” Mutations in the spike protein affect drug binding and effectiveness.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
4 citations
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October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
35 citations
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January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
10 citations
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November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
6 citations
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November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
76 citations
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February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.