5 citations,
June 2016 in “Twin research and human genetics” Hair diameter and curvature are mostly determined by genetics.
3 citations,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
1 citations,
March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
April 2023 in “Medizinische Genetik” Male-pattern hair loss is largely influenced by genetics, with key genes identified.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
59 citations,
August 2007 in “Clinical Endocrinology” The current methods for diagnosing polycystic ovary syndrome are too vague and may lead to misdiagnosis and problems in research.
43 citations,
September 2014 in “Molecular Plant” CLE40 and CRN/CLV2 pathways have opposite effects on root growth in Arabidopsis.
39 citations,
September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
37 citations,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
20 citations,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
16 citations,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
3 citations,
June 2019 in “Clinical nursing studies” Polycystic ovary syndrome (PCOS) lowers women's quality of life, especially mentally and socially, but nursing guidelines can improve their understanding of the condition.
1 citations,
April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
March 2013 in “Endocrine Abstracts” Ethnicity affects how polycystic ovary syndrome shows up in women, with white women having higher metabolic risks but less diabetes, and South Asian women showing more androgenic symptoms and being younger at presentation.
124 citations,
July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
82 citations,
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.
80 citations,
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,
May 1986 in “Clinics in endocrinology and metabolism” Androstanediol glucuronide is a reliable marker for hirsutism in women.
50 citations,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
49 citations,
January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
44 citations,
January 2019 in “Journal of Translational Medicine” Macrophages are essential for successful skin growth in reconstructive surgery.
40 citations,
January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
39 citations,
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,
March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
30 citations,
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.