10 citations
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December 2015 in “Experimental dermatology” EGFR helps mouse hair follicles stop growing by reducing certain growth regulators.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
1 citations
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August 2015 in “Experimental Dermatology” KIT's role in skin cells is not entirely independent, as other cells can influence its function.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
November 2024 in “The Journal of Cell Biology” Basement membrane changes are crucial for hair follicle development.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
4 citations
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August 2018 in “Journal of cellular biochemistry” Acid inside cells speeds up aging and turns on aging signs in mice.
89 citations
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August 2013 in “PloS one” Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
2 citations
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May 2019 in “International Journal of Molecular Sciences” Tranexamic acid turns white hair brown in certain mice by affecting specific proteins.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
June 2008 in “Wound Repair and Regeneration” Msx-2 gene removal speeds up skin wound healing in mice.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
15 citations
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January 1991 in “Mammalian Genome”
6 citations
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May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
11 citations
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
100 citations
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May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
27 citations
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February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
October 2005 in “The Journal of clinical investigation/The journal of clinical investigation” Genetic manipulations that extend lifespan in mice may not work as effectively in humans.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.