Defective protein folding due to a mutation is key in ANE syndrome.
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
49 citations
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August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
30 citations
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October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
4 citations
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June 1998 in “The Journal of Clinical Endocrinology & Metabolism” KGF and its receptor are found in enlarged prostate tissue and KGF strongly increases cell growth.
1 citations
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
11 citations
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January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
12 citations
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September 1982 in “Journal of Investigative Dermatology” 98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
25 citations
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August 2020 in “Experimental eye research/Experimental Eye Research” Different types of cells in the eye express specific keratins at various stages of development.
3 citations
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January 1984 1 citations
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August 2015 in “Experimental Dermatology” KIT's role in skin cells is not entirely independent, as other cells can influence its function.
47 citations
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January 2024 in “iScience” Stress keratins are expressed less in diseased skin and are linked to differentiation, inflammation, and immunity.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
23 citations
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January 2005 in “Nihon Ishinkin Gakkai zasshi” Nested PCR can reliably identify fungal infections when traditional methods fail.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
36 citations
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November 2005 in “Forensic Science International” BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
September 2024 in “Journal of the American Academy of Dermatology” Oxytocin receptors are found in skin cells near touch and pain neurons.
1 citations
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June 2018 in “World rabbit science” Different miRNAs in Rex rabbit skin affect cell processes and hair growth.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.