April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
1533 citations
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October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
1398 citations
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
989 citations
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August 2007 in “The Lancet” PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
532 citations
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August 2011 in “Journal of the American Academy of Dermatology” Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
438 citations
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October 2010 in “Oncogene” Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
411 citations
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April 2010 in “Gastroenterology” Targeting colon cancer stem cells might lead to better treatment results.
291 citations
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January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
258 citations
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July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
256 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Growing human skin cells in a 3D environment can stimulate new hair growth.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
186 citations
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July 1998 in “Journal of Cutaneous Medicine and Surgery” Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
124 citations
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February 2018 in “Nature Reviews Genetics” Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
103 citations
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January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
92 citations
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December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
91 citations
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December 2017 in “Systems Biology in Reproductive Medicine” Lower SHBG levels may increase the risk of PCOS.
88 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Minoxidil and finasteride effectively treat hair loss.
77 citations
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August 2025 in “Signal Transduction and Targeted Therapy” Extracellular vesicles show promise for treating diseases but face challenges in development and regulation.
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
67 citations
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January 2020 in “Cellular & Molecular Immunology/Cellular & molecular immunology” Tissue-resident memory T cells can protect against infections and cancer but may also contribute to autoimmune diseases.
66 citations
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January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
46 citations
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June 2015 in “Fertility and Sterility” Insulin resistance is significantly linked to a higher risk of depression in women with PCOS.