January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
December 2015 in “University of Birmingham Institutional Research Archive (University of Birmingham)” AKR1C3 could be a treatment target for metabolic issues in PCOS.
A specific gene change in APCDD1 increases the risk of hair loss.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
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.
6 citations
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June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
77 citations
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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.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
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.
34 citations
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May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
10 citations
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April 2020 in “PloS one” Lack of Crif1 in hair follicle stem cells slows down hair growth in mice.
15 citations
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
51 citations
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December 2006 in “Mammalian Genome”
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
341 citations
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November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
62 citations
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December 2007 in “Journal of Cellular and Molecular Medicine” Kremen is crucial for proper development and preventing tumors by regulating Wnt signaling.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
1 citations
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May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
11 citations
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May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
11 citations
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.