122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
118 citations
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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.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
111 citations
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January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
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.
102 citations
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July 2007 in “Genes & Development” A mother's PPARγ is crucial for preventing harmful milk that can cause inflammation and growth problems in babies.
101 citations
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
101 citations
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August 2010 in “PLoS ONE” Selenoproteins are crucial for healthy skin and hair.
99 citations
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
95 citations
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July 2010 in “Genes & development” Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
86 citations
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April 2016 in “Nature Communications” Notch1 helps skin heal by attracting specific immune cells.
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
84 citations
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October 2014 in “PLoS Genetics” Wnt signaling is essential for forming the skin's spinous layer through a BMP-FGF pathway.
82 citations
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June 2020 in “Inflammation Research” Skin problems in COVID-19 patients are rare and may be due to the body's complex immune response or blood clotting issues.
82 citations
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October 2019 in “Frontiers in Immunology” Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
81 citations
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January 2003 in “The FASEB Journal” Follistatin helps hair growth and cycling, while activin prevents it.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
80 citations
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April 2011 in “Plant physiology” White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
67 citations
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August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
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November 2019 in “Nature Communications” Oncogenic melanocyte stem cells can develop into melanoma similar to human cases.
66 citations
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December 2013 in “Nature Cell Biology” Inactive hair follicle stem cells help prevent skin cancer.
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.
64 citations
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August 2019 in “Circulation” ADT, especially enzalutamide, may increase the risk of heart rhythm problems and sudden death in men.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.