25 citations
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January 1983 in “Archives of dermatology” The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
238 citations
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October 1994 in “Current opinion in genetics & development” The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
February 1999 in “The anatomical record” Two mouse mutants have defective hair cuticle cross-linking.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
68 citations
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August 2014 in “PeerJ” Human hair proteins vary by individual, body site, and ethnicity, useful for forensics.
54 citations
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November 1994 in “Differentiation” Trichohyalin is found in non-hair tissues and works with filaggrin in certain skin areas and conditions.
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.
44 citations
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January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
30 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” TGase 3 helps build hair structure by forming strong bonds between proteins.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
2 citations
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May 2020 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” The study found that specific proteins are markers of hair follicle development in human fetuses.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
1 citations
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April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
November 2021 in “Clinical, cosmetic and investigational dermatology” An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
The conclusion is that there's a link between high testosterone levels, insulin resistance, and certain skin conditions, regardless of obesity.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
15 citations
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January 2012 in “Journal of Veterinary Science” Different dog breeds have varying skin thickness and protein expression in their skin.
108 citations
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November 1980 in “British Journal of Dermatology” Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
70 citations
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January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.