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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
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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.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
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January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
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September 2024 in “Frontiers in Physiology” Overexpression of R-spondin 3 leads to sparse hair and impaired hair regeneration.
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
February 1999 in “The anatomical record” Two mouse mutants have defective hair cuticle cross-linking.
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July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
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July 2019 in “Nature Communications” Par3 protein is essential for skin cell balance and stability.
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April 2008 in “PROTEOMICS” Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
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January 1968 in “PubMed” Sulfur-containing radioprotectors can protect hair from X-ray damage if given before exposure but worsen damage if given after.
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October 2009 in “Cancer research” Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
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June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
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June 2013 in “Science” Mice without the Sept4/ARTS gene heal wounds better due to more stem cells that don't die easily.
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December 1991 in “Annals of the New York Academy of Sciences” Minoxidil boosts hair growth in genetically modified mice.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.