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.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
28 citations
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August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
September 2019 in “Journal of Investigative Dermatology” PCE-DP brightens skin and promotes hair growth by enhancing cell growth and reducing melanin uptake.
21 citations
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June 2004 in “Experimental Dermatology” Ber‐EP4 marks cells related to the secondary hair germ in hair follicles.
8 citations
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
17 citations
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August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
41 citations
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December 1988 in “Journal of Investigative Dermatology”
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
1 citations
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January 2015 in “China Animal Husbandry & Veterinary Medicine” Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
44 citations
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May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
26 citations
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December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
September 2025 in “American Journal of Dermatopathology” PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
47 citations
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July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
49 citations
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August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
7 citations
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September 2003 in “Journal of Investigative Dermatology” PAR-1 may play a role in hair growth regulation in human hair follicles.