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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
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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.
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January 2006 Diagonal earlobe and preauricular creases may indicate higher coronary artery disease risk in men.
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August 2008 in “Cases Journal” A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
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November 1977 in “Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics”
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August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
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April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
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August 2016 in “Journal of Visualized Experiments” The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
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May 1991 in “The journal of investigative dermatology/Journal of investigative dermatology” Trichohyalin is also found in the outer layers of normal human skin.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
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February 1990 in “The journal of cell biology/The Journal of cell biology” Trichohyalin, a hair follicle protein, has a part with repeating patterns of 23 amino acids.
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July 2008 in “Dermatologic Therapy” A scale was made to measure hair loss severity in African American women.
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
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March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
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August 2020 in “Frontiers in Cell and Developmental Biology” Twist1 helps maintain important features of cells crucial for hair growth by working with Tcf4 and β-catenin.
January 2021 in “Medical Research Archives” Genetically modified rats help reveal how vitamin D affects bone and skin health.
July 2025 in “Journal of Investigative Dermatology” September 2017 in “Korean journal of acupuncture” Crataegi Fructus water extract helps hair grow better and thicker.
August 2025 in “Scientific Reports” C4BPA protein may link acne severity and insulin resistance.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
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November 2014 in “Proteins Structure Function and Bioinformatics” Cysteines in wool fibers are accessible and form important disulfide bonds.
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March 2021 in “Molecular and Cellular Endocrinology” CYP11A1 is crucial for skin health and disease by producing important steroids.
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January 2018 in “Advances in experimental medicine and biology” 9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
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June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.