A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
70 citations
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May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Notch/RBP-J signaling is crucial for proper placement and timing of melanocyte development in hair follicles.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
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October 2002 in “Journal of Investigative Dermatology” IL-10 may worsen alopecia areata instead of helping it.
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July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
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February 2019 in “Experimental Dermatology” Spiny mice are better at regenerating hair after injury than laboratory mice and could help us understand how to improve human skin repair.
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
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December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” 18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
January 2008 in “한국미용학회지” Certain enzymes and a growth factor were higher in mice treated with minoxidil or a peppermint and rosemary oil mix, which may be good indicators of hair growth.
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April 1997 in “Oncogene” Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
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January 2002 in “Mechanisms of development” Different enzymes are active in different parts of developing mouse organs.
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
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March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
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March 2006 in “Regulatory Peptides” Mice skin has components that could help with hair growth and might be used for diabetes treatment.
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January 1943 in “Endocrinology” Adrenalectomy boosts hair growth and melanin in black rats, even with vitamin B¹ deficiency.
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January 2004 in “Experimental Dermatology” Topical anthralin helped regrow hair in mice with a condition similar to human alopecia.
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
49 citations
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August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
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January 2022 in “Health Science Reports” Gremlin proteins help regulate hair growth by balancing signals in hair follicles.
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January 2020 in “Scientific Reports” The African spiny mouse heals skin without scarring due to different protein activity compared to the common house mouse, which heals with scarring.