December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
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.
DNA methylation affects BMP7 gene expression, influencing cell growth in Hu sheep.
Epimorphin helps shape and develop epithelial cells, like those in hair follicles.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein is important for controlling hair growth cycles.
82 citations
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December 2011 in “Journal of Biological Chemistry” p63 is essential for skin cell growth and differentiation by controlling specific gene networks.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
10 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
November 2024 in “The Journal of Cell Biology” Basement membrane changes are crucial for hair follicle development.
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.
28 citations
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February 2007 in “Cancer Research” Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
9 citations
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August 2013 in “Archives of Dermatological Research” A gene called BMAL1 plays a role in controlling hair growth.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
September 2025 in “American Journal of Dermatopathology” PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.