1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
50 citations
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December 2006 in “Bone” Exemestane may protect bones by stimulating osteoblast growth through androgen-related pathways.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
January 2011 in “Zhongguo nongye Kexue” Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
40 citations
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June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
September 2016 in “Journal of dermatological science” Collagen XVII is crucial for skin cell growth and nail health.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
1744 citations
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August 2006 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.
1540 citations
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October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
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.
667 citations
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May 2008 in “Genes & Development” Histone demethylases can change gene expression and may be linked to diseases like cancer.
658 citations
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June 2003 in “Endocrine reviews” Male hormones may play a role in the development of heart disease, and more research is needed to understand their effects.
556 citations
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September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
520 citations
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February 2001 in “Journal of Clinical Investigation” VEGF helps hair grow and determines follicle size by increasing blood vessel growth.
467 citations
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October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
451 citations
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March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
421 citations
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April 2012 in “The New England Journal of Medicine” Alopecia Areata is an autoimmune condition causing hair loss with no cure and treatments that often don't work well.
402 citations
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August 2011 in “Cancer research” Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.
384 citations
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June 2005 in “Genes & development” β-catenin is essential for stem cell activation and proliferation in hair follicles.
349 citations
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January 2005 in “The FASEB journal” Human skin can make serotonin and melatonin, which help protect and maintain it.
326 citations
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February 2009 in “The American journal of pathology” Lgr5 is a marker for active, self-renewing stem cells in the intestine and skin, important for tissue maintenance.
308 citations
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September 2010 in “Nucleic acids research” Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.