80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
57 citations
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May 1986 in “Clinics in endocrinology and metabolism” Androstanediol glucuronide is a reliable marker for hirsutism in women.
56 citations
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November 2022 in “Biomolecules” Targeting macrophages may improve wound healing.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
46 citations
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November 1998 in “Experimental Cell Research” K15 gene is mainly active in the basal layers of hair follicles and epithelia, aiding early skin cell development.
44 citations
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January 2019 in “Journal of Translational Medicine” Macrophages are essential for successful skin growth in reconstructive surgery.
42 citations
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August 2022 in “Diagnostics” Diagnose PCOS in teens using irregular periods and high androgen levels, not ultrasound.
40 citations
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January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
28 citations
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July 2017 in “Journal of Endocrinological Investigation” Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
28 citations
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May 2017 in “Molecular ecology” Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
23 citations
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May 2009 in “International Journal of Dermatology” AR gene not major factor in female hair loss; different from male hair loss.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
19 citations
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March 2016 in “Frontiers in Plant Science” Spermidine is essential for plant growth and adaptation to stress.
18 citations
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January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
17 citations
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June 2018 in “Sexual Medicine Reviews” The document concludes that non-operative treatment for gender dysphoria is safe and effective, and hormone therapy does not increase cancer risk.
17 citations
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January 2007 in “Annals of Medicine” Cutaneous gene therapy could become a viable treatment for skin and hair disorders with improved vector development and gene expression control.
16 citations
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July 2020 in “Health and Quality of Life Outcomes” Women with Polycystic Ovary Syndrome (PCOS) have a lower health-related quality of life, especially those with an anovulatory phenotype, and may need specific interventions to improve it.