44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
August 2022 in “International Journal of Molecular Sciences” DNA methylation controls lncRNA2919, which negatively affects hair growth.
8 citations
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September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
53 citations
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October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
130 citations
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January 2000 in “Nature biotechnology”
69 citations
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January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
59 citations
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April 2016 in “Cell Reports” EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
January 1999 in “Birkhäuser Basel eBooks” Metallothionein likely helps in cell growth and development in wool follicles of fetal sheep.
222 citations
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August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
73 citations
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December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
14 citations
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September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
2 citations
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June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
12 citations
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September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.