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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
4 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” ELL is crucial for gene transcription related to skin cell growth.
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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.
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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.
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.
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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.
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.
305 citations
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February 2007 in “Hormone and metabolic research” Human skin makes sexual hormones that affect hair growth, skin health, and healing; too much can cause acne and hair loss, while treatments can manage these conditions.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
291 citations
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April 2010 in “Gastroenterology” Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
260 citations
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June 2011 in “Cell” Wnt signaling is crucial for pigmented hair regeneration by controlling stem cell activation and differentiation.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
253 citations
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March 2006 in “The Journal of Clinical Endocrinology and Metabolism” Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
252 citations
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April 2009 in “Seminars in Cell & Developmental Biology” The immune system plays a key role in tissue repair, affecting both healing quality and regenerative ability.
249 citations
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April 2002 in “The FASEB journal” Human skin can make serotonin and melatonin.
243 citations
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October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
233 citations
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November 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.
232 citations
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January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
216 citations
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November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.