27 citations
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
73 citations
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April 2013 in “Stem cells” LGR5 helps maintain corneal cell characteristics and prevents unwanted changes by controlling specific cell signaling pathways.
19 citations
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August 2012 in “Cell death and differentiation” Intu gene is crucial for hair follicle formation by helping keratinocytes differentiate through primary cilia.
April 2018 in “Journal of Investigative Dermatology” Ceramide synthase 4 is essential for maintaining skin barrier health.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
8 citations
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September 2017 in “Journal of Investigative Dermatology” CXXC5 is a protein that prevents hair growth and could be a target for hair loss treatment.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
January 2025 in “Cellular and Molecular Biology” The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
September 2023 in “Nature communications” Alk1 in specific cells is crucial for proper nerve branching and hair function.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
October 2024 in “SPIRE - Sciences Po Institutional REpository”
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
April 2010 in “Cancer Research” CDK4 levels affect the number of hair follicle stem cells in mice.
April 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration by supporting stem cells.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
July 2024 in “Journal of Investigative Dermatology”
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
August 2019 in “International journal of dermatology and venereology” The calcineurin/NFAT pathway plays a significant role in the development and growth of a type of skin cancer called cutaneous squamous cell carcinoma.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
67 citations
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December 2008 in “Developmental Biology” Msx2 and Foxn1 are both crucial for hair growth and health.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
37 citations
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January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
February 2026 in “Pediatric Dermatology”
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
25 citations
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October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.