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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.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
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January 2016 in “BMC Bioinformatics” The method can effectively extract biomedical information without needing expert annotation, performing better than previous models.
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September 2009 in “European journal of epidemiology” The Rotterdam Study aims to understand various diseases in older adults.
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December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
160 citations
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January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
156 citations
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August 2016 in “Journal of controlled release” Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
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July 2014 in “Cold Spring Harbor Perspectives in Medicine” The dermal papilla is crucial for hair growth and health, and understanding it could lead to new hair loss treatments.
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November 2020 in “International Journal of Molecular Sciences” Keratinocytes help heal skin wounds by interacting with immune cells and producing substances that kill pathogens.
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February 2019 in “PLoS Biology” Feather patterns in birds are shaped by signaling interactions and cell movements, with EDA/EDAR crucial for pattern formation.
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November 2010 in “Journal of Dermatological Science” Male pattern baldness involves hormones and cell signals affecting hair growth.
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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July 2020 in “Communications biology” Men, especially older ones with health issues like prostate cancer, may have worse COVID-19 outcomes and could benefit from therapies targeting male hormones.
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November 2014 in “Cell Stem Cell” New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
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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.
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
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May 2012 in “PLOS Genetics” Six new genetic regions linked to early hair loss also connect to Parkinson's disease and prostate cancer, possibly leading to new treatments.
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July 1990 in “British Journal of Pharmacology” Diazoxide, minoxidil sulphate, and cromakalim relax rat blood vessels by opening K+ channels, with some differences in their actions.
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March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
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July 2020 in “European Journal of Clinical Pharmacology” Blocking the virus's entry into cells by targeting certain pathways could lead to early COVID-19 treatments.
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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.
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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September 2012 in “Dermatologic Clinics” Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.
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May 2017 in “Nature Cell Biology” Hair can regrow after certain stem cells are lost because other stem cells can take over their role.