359 citations
,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
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.
247 citations
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August 2011 in “European Journal of Epidemiology” The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
244 citations
,
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.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
144 citations
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August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
122 citations
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November 2010 in “Journal of Dermatological Science” Male pattern baldness involves hormones and cell signals affecting hair growth.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
115 citations
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March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
106 citations
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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.
105 citations
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August 2010 in “Pharmacology & therapeutics” Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
103 citations
,
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.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
89 citations
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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.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
60 citations
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September 2015 in “Expert Review of Clinical Immunology” Lymphocytes, especially CD8+ T cells, play a key role in causing alopecia areata, and targeting them may lead to new treatments.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
43 citations
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November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
43 citations
,
April 2017 in “Experimental Dermatology” Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
29 citations
,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
26 citations
,
February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
26 citations
,
May 2013 in “British Journal of Dermatology” Hair loss risk is influenced by multiple genes.
26 citations
,
May 2012 in “Cellular and Molecular Life Sciences” NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
20 citations
,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
20 citations
,
June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.