1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
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.
15 citations
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June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
7 citations
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July 2016 in “Journal of Biomedical Materials Research Part A” cGEL hydrogel improves melanin production in skin cells, making it a promising option for skin treatments.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
10 citations
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June 2021 in “Journal of Investigative Dermatology” 23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
13 citations
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March 2022 in “Cell Death and Differentiation” Sema3A can both slow and speed up wound healing, depending on its form and combination with EGF.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
24 citations
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September 2024 in “Journal of Investigative Dermatology”
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
35 citations
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July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
26 citations
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October 2016 in “Biomolecules & Therapeutics” 3-Deoxysappanchalcone helps human hair cells grow and stimulates hair growth in mice by affecting certain cell signaling pathways.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
32 citations
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January 2000 in “International Journal of Cancer” Transglutaminase-3 is often reduced in esophageal cancer.
June 2026 in “Precision medicine and engineering.” The hydrogel dressing RD@PVA helps heal diabetic wounds by reducing stress and improving blood vessel growth.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
193 citations
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June 1990 in “Journal of Investigative Dermatology” 32 citations
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January 2016 in “Development” Sebaceous lipids are crucial for keeping skin and eyes healthy in mice.
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” Sub3 is essential for fungus adherence but not for skin invasion.