July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
July 2022 in “Dermatology Reports” A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
42 citations
,
January 2002 in “Skin Pharmacology and Physiology” Reconstructed skin models are useful for studying how skin processes certain chemicals.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
249 citations
,
May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
January 2026 in “RSC Advances” Epristeride's metabolism in zebrafish helps improve doping detection methods.
12 citations
,
June 2025 in “Gut Microbes” BroadAMP-GPT effectively creates antimicrobial peptides to fight drug-resistant bacteria.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
April 2016 in “Journal of The American Academy of Dermatology” Ixekizumab is effective and safe for patients who did not improve with etanercept treatment for psoriasis.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
129 citations
,
July 2019 in “Stem Cell Research & Therapy” Epidermal stem cells help heal severe skin wounds and have potential for medical treatments.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
33 citations
,
April 2003 in “Oncogene”
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” EAAT4 decreases with age, harming skin function and calcium balance.
January 2012 in “Journal of Northwest A & F University” The Eda gene helps regulate the hair cycle in goats.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
4 citations
,
January 1994 in “Yakugaku zasshi” EPC-K is stable except at very acidic pH or when exposed to sunlight, and it can decompose in low ethanol concentrations.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
10 citations
,
November 2017 in “Skin Appendage Disorders” Erosive pustular dermatosis in elderly people may be linked to aging immune systems and skin damage.
August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.