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.
42 citations
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April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
25 citations
,
July 2013 in “Journal of Dermatological Science” Six new hair loss factors in men not linked to female hair loss.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
10 citations
,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
5 citations
,
May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
4 citations
,
June 2021 in “Scientific Reports” Hair fiber shape and curvature are not significantly linked when ancestry is considered.
1 citations
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November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Quantifying hair shape is better than using racial categories for understanding hair characteristics.
March 2026 in “Nature Communications” Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
April 2023 in “Medizinische Genetik” New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
13 citations
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January 2020 in “Neuroscience” Blocking 5α-reductase can harm memory and brain structure, and increase harmful brain changes in male mice used for Alzheimer's disease research.
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.
1514 citations
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December 2011 in “Fertility and sterility” Experts agree that PCOS affects women's health in complex ways, but more research is needed to understand and treat it effectively.
1415 citations
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October 2007 in “European Journal of Epidemiology” The Rotterdam Study investigates diseases in older adults and has produced many research findings.
1341 citations
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January 2014 in “Cardiology Research and Practice” Managing metabolic syndrome needs both lifestyle changes and medical treatments.
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.
555 citations
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July 2001 in “Genes & Development” Tcf3 and Lef1 are key in deciding skin stem cell roles.
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.
405 citations
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May 2007 in “Journal of The American Academy of Dermatology” Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
384 citations
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June 2005 in “Genes & development” β-catenin is essential for stem cell activation and proliferation in hair follicles.
378 citations
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November 2011 in “Human reproduction update” Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
343 citations
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March 2016 in “Nature Communications” IL-17-producing γδ T cells help improve bone healing.
343 citations
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December 2008 in “Endocrine Reviews” Metformin helps with menstrual cycles and insulin levels in PCOS but is less effective for hair growth, diabetes prevention, and weight loss, and may improve fertility and reduce diabetes risk.
286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
266 citations
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November 2013 in “European Journal of Epidemiology” The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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.