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.
February 2014 in “Revista Argentina de Cardiología” Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
January 2012 in “DigtalCommons @ Texas Medical Center Library (Texas Medical Center)” Stat3 affects skin cancer development by altering keratinocyte stem cell behavior.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
7 citations
,
September 2024 in “The Journal of Dermatology” Ritlecitinib helps regrow hair in people with alopecia totalis and universalis and is safe to use.
March 2010 in “The Journal of Urology” Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
August 2015 in “PubMed Central” Epithelial-derived Pop-Up Keratinocytes (ePUKs) may enhance wound healing in regenerative medicine.
22 citations
,
May 2007 in “Molecular Biotechnology” March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
23 citations
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December 2013 in “Molecular cancer therapeutics” Breast cancer treatments work better with AR activation, improving results and reducing side effects.
3 citations
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April 2015 in “Current problems in dermatology” A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
35 citations
,
January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
46 citations
,
October 2022 in “Biomaterials” March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
August 2012 in “Nature Cell Biology” A pathway helps maintain long telomeres in both stem and cancer cells.
98 citations
,
December 1991 in “Annals of the New York Academy of Sciences” Keratin gene regulation is similar across mammals, affecting hair follicle differentiation.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
40 citations
,
September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
92 citations
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July 2001 in “The FASEB Journal” Overexpressing the glucocorticoid receptor in mice leads to abnormal skin development and reduced inflammation.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
23 citations
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September 2013 in “Molecular Carcinogenesis” Increased Stat3 activity reduces hair follicle stem cells and boosts other stem/progenitor cells.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.