July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
March 2011 in “Pigment Cell & Melanoma Research” The Agouti gene influences pigmentation and may have a developmental role in deer mice.
64 citations
,
February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
Defective protein folding due to a mutation is key in ANE syndrome.
54 citations
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April 2019 in “Journal of cellular physiology” miR-218-5p helps skin and hair growth by targeting SFRP2 and activating a specific signaling pathway.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
July 2024 in “Journal of Investigative Dermatology” Losing both ERBB2 and ERBB3 receptors in mice causes significant skin problems and inflammation.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
54 citations
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July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
January 1999 in “Praxis sociológica” Melanocyte stem cells can become melanoma, resembling human melanoma.
27 citations
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January 2012 in “Current Topics in Microbiology and Immunology” Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
April 2013 in “Developmental Cell” Brg1 is crucial for keeping hair follicle stem cells and repairing skin, working with the Sonic Hedgehog pathway to promote hair growth.
July 2024 in “International Journal of Molecular Sciences” MicroRNAs could help assess and manage multiple chronic diseases.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
15 citations
,
May 1987 in “Fundamental and applied toxicology” SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe side effects.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
176 citations
,
February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.