6 citations
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
April 2019 in “Journal of Investigative Dermatology” The humanized AA mouse model is better for testing new alopecia areata treatments.
Lhx2 helps retinal cells respond to signals for eye development.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
29 citations
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June 2000 in “Endocrinology” Alopecia in VDR knockout mice is due to impaired hair cycle initiation, not keratinocyte issues.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
1 citations
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September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
1 citations
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September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
April 2015 in “The FASEB Journal” Selenium deficiency worsens aging symptoms in mice.
38 citations
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October 2013 in “Gynecologic and Obstetric Investigation” Severe iron deficiency lowers fertility in female rats.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
5 citations
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June 2017 in “in Vivo” Vitamin C deficiency changes gene expression, affecting skin and hair health.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
The naked mutation in mice causes hair loss and helps identify keratin genes.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
April 2016 in “Journal of Investigative Dermatology” Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
133 citations
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January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
12 citations
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August 2007 in “Human Molecular Genetics” Lymphotoxin-β is crucial for proper skin development in embryos.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.