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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
4 citations,
May 2021 in “The American Journal of Surgical Pathology” Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
405 citations,
May 2007 in “Journal of The American Academy of Dermatology” Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
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May 2011 in “Human Immunology” Genetics play a role in acne, but how exactly they contribute is not fully understood.
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June 2020 in “British Journal of Pharmacology” Activating TRPV4 in skin cells helps regrow hair in mice, possibly offering a treatment for hair loss.
232 citations,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
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July 2012 in “Cold Spring Harbor perspectives in biology” The skin protects the body and is constantly renewed by stem cells; disruptions can lead to cancer.
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September 2023 in “Frontiers in immunology” Chronic inflammatory skin diseases are caused by disrupted interactions between skin cells and immune cells.
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November 2017 in “Molecular Aspects of Medicine” The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
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March 2013 in “Expert opinion on biological therapy” Epidermal stem cells have potential for personalized regenerative medicine but need careful handling to avoid cancer.
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December 2013 in “Nature Cell Biology” Inactive hair follicle stem cells help prevent skin cancer.
Higher EULAR/ACR scores in SLE patients predict more organ damage.
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April 2019 in “Journal of Cutaneous Pathology” Hair becomes gray and thin as we age, and while most hair loss in older people is due to genetics, there's a chance for gray hair to regain color under certain conditions.
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April 2008 in “Current opinion in cell biology” Notch signalling helps skin cells differentiate and prevents tumors.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
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January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
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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.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
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May 2022 in “Stem cell research & therapy” Disrupted stem cell signals in hairpoor mice cause hair loss.
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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September 2014 in “Cell Death & Differentiation” Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
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March 2017 in “Medical Hypotheses” Aquaporins could be new drug targets for treating polycystic ovary syndrome.