9 citations
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
1 citations
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September 2025 in “PLoS ONE” Actin and alpha-smooth muscle actin help skin heal in mouse fetuses.
January 2006 in “Journal of Sun Yat-sen University” Engineered skin using stem cells and collagen sponge effectively healed and regenerated complex skin features in mice.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
22 citations
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March 2023 in “Bioengineering” Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
1 citations
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May 2024 in “Journal of Dermatological Science” Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
19 citations
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November 1985 in “Archives of Dermatology” The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
Reprogramming adult fibroblasts may enable scar-free healing.
38 citations
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December 2012 in “Journal of Cutaneous Pathology” EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
June 2026 in “Frontiers in Immunology” EMT plays a key role in skin fibrosis and offers new therapy targets.
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.
15 citations
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January 1995 in “Archives of Dermatological Research” Minoxidil boosts elastin production, potentially helping skin diseases.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
1 citations
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January 2025 in “Journal of Cosmetic Dermatology” Inhibiting ACE2 improves skin regeneration during tissue expansion.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
19 citations
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April 2024 in “Nature Cell Biology”
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
51 citations
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May 2021 in “Nature Communications” High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.