26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
97 citations
,
May 2019 in “Frontiers in Cell and Developmental Biology” Abnormal ECM and immune cell interactions can cause skin diseases.
14 citations
,
May 2022 in “Stem cell reports” The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
9 citations
,
July 2021 in “Dermatology and Therapy” New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
2 citations
,
August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
9 citations
,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
20 citations
,
March 2014 in “PubMed” Hair follicle stem cell research has advanced in understanding and using these cells for hair growth and skin repair.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
65 citations
,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
63 citations
,
March 2018 in “Experimental Dermatology” Collagen XVII is vital for skin structure, hair stem cell support, and skin cell regulation.
March 2015 in “Plastic and reconstructive surgery” Human skin has multiple layers and functions, with key roles in protection, temperature control, and appearance.
6 citations
,
January 2016 in “Dermatology Review” Stem cells show promise for treating skin conditions and aiding healing.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
August 2022 in “Tissue Engineering Part A” Advancements in skin treatment and wound healing include promising gene therapy, 3D skin models, and potential new therapies.
17 citations
,
January 2007 in “Annals of Medicine” Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
2 citations
,
December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.