87 citations
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July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
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.
60 citations
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November 2023 in “Biology” Aging skin causes inflammation that affects the whole body.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
55 citations
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February 2013 in “The Anatomical Record” Mouse nails are similar to human nails, making them useful for studying nail diseases.
54 citations
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January 2009 in “Development” β-catenin, Shh, and Bmp signaling control hair follicle development.
53 citations
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October 2003 in “Developmental Biology” Too much Sonic Hedgehog protein stops hair growth in embryos.
41 citations
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
37 citations
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May 2018 in “Frontiers in physiology” Certain RNA molecules are important for the development of wool follicles in sheep.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
35 citations
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January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
33 citations
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August 2008 in “American Journal Of Pathology” Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
32 citations
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February 2019 in “eLife” BMP signaling is essential for the development of touch domes.
29 citations
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June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
28 citations
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August 2005 in “Journal of Investigative Dermatology” TG5 helps maintain hair follicle health, while TG3 aids in hair shaft development.
26 citations
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October 2020 in “Biomedicines” Bioengineered skin models help reduce animal testing and advance research in cosmetics and skin disease.
24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
23 citations
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February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
21 citations
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July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
20 citations
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June 2010 in “Dermatology Online Journal” Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
17 citations
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October 2023 in “Molecules” Plant-derived PDRN from ginseng roots effectively heals skin and improves its barrier.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.