2 citations
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May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
May 2018 in “European Journal of Dermatology” Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
180 citations
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April 2002 in “Cell Death and Differentiation” 21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
10 citations
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January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
101 citations
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August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
June 2021 in “Asian Journal of Medical Sciences” Vitamin B12 deficiency can cause reversible skin darkening.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
8 citations
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
70 citations
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March 1997 in “Journal of Investigative Dermatology”
9 citations
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July 2018 in “Current Pharmaceutical Design” HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.
April 2026 in “The FASEB Journal” Exosomal miR-199a-3p from dermal papilla cells helps control hair color by affecting melanocytes.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
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.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.