100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
32 citations
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September 2013 in “Breast cancer research” A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
April 2011 in “Reactions Weekly”
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
1 citations
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January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
January 2026 in “Cosmetics” Cacumen Platycladi extract can safely and effectively reduce hair loss and increase hair density.
6 citations
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October 2016 in “Contraception” The medication cyproterone acetate/ethinylestradiol is usually prescribed correctly for acne after other treatments don't work.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
232 citations
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June 1975 in “Journal of Steroid Biochemistry” Cyproterone acetate is effective for acne but less so for hirsutism and alopecia, with some side effects and quick menstrual cycle recovery after treatment.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
August 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” Finasteride, at doses of 5mg or higher, may negatively affect male fertility by reducing the expression of certain genes involved in sperm production.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
June 2002 in “Science of aging knowledge environment” The cancer gene c-Myc increases harmful chemicals that damage DNA and can lead to cancer, but antioxidants can reduce this damage.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a new way UVB light increases skin pigmentation through the ATP-P2X7 pathway.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
11 citations
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September 2015 in “Theriogenology” Testosterone boosts fluid and electrolyte secretion in seminal vesicles, aiding sperm function.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.