April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
April 2024 in “Authorea (Authorea)” Understanding the nanoscale structure of skin fibrosis can improve knowledge of wound healing and tissue regeneration.
3 citations
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March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
Reprogramming adult fibroblasts may enable scar-free healing.
19 citations
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February 2013 in “Archives of Dermatological Research”
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
28 citations
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February 1999 in “Journal of Investigative Dermatology” Urokinase, a type of protein, helps skin cells multiply faster, especially in newborn mice.
December 2025 in “Animals” TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
7 citations
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March 2020 in “Journal of the American Academy of Dermatology” EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
October 2022 in “JAAD case reports” A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
39 citations
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January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
15 citations
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August 1991 in “Histochemistry and Cell Biology” Enhancing Factor is found in growing tissues like young mouse intestines and skin but not in adults.
4 citations
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April 2018 in “The journal of pediatrics/The Journal of pediatrics” A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
1 citations
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April 2025 in “Clinical Cosmetic and Investigational Dermatology” Erlotinib can cause scalp pustules and hair loss, needing early treatment with antibiotics and steroids.
Loose anagen hair syndrome in children may improve with age, but treatment results vary.
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.
52 citations
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September 2012 in “Oncogene” December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
180 citations
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April 2002 in “Cell Death and Differentiation”