99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
April 2023 in “Journal of Investigative Dermatology” An automated method accurately assesses melanoma risk using 3D body images to analyze skin traits.
April 2023 in “Journal of Investigative Dermatology” Scientists created a 3D skin model that shows typical signs of aging, which can help in aging research.
10 citations
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August 2002 in “Sexualities” The critique suggests that Wilton's work unintentionally supports the very stereotypes it aims to question and calls for a broader, more inclusive approach to understanding gender.
24 citations
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November 2023 in “Nature” The extracellular matrix affects where tumors can start in the body.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
51 citations
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January 2024 in “Burns & Trauma” Engineered extracellular vesicles can improve tissue repair and regeneration.
January 2016 in “Elsevier eBooks” The conclusion is that grasping how cells determine their roles through evolution is key, with expected progress from new research models and genome editing.
30 citations
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December 1996 in “Journal of Investigative Dermatology” 81 citations
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February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
34 citations
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September 2007 in “Experimental Dermatology” The outer layer of Merino wool is rich in sulfur proteins, making it resistant to damage.
December 2025 in “British Journal of Dermatology” January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
February 2020 in “Oxford University Press eBooks” The alpha-helix was confirmed as a key structure in proteins.
3 citations
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August 2024 in “Dermatology and Therapy” Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
2 citations
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November 2024 Machine learning can accurately predict mental disorders.
August 1993 in “Journal of dermatological science” 12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
December 2020 in “Open Repository of the University of Porto (University of Porto)” 11 citations
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June 2017 in “Mathematical Medicine and Biology A Journal of the IMA” The model helps understand and improve treatments for alopecia areata by simulating hair growth and immune cell interactions.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
4 citations
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November 2024 in “Current Opinion in Genetics & Development” 68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.