16 citations,
January 2012 in “European Journal of Endocrinology” The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
16 citations,
January 2007 in “Dermatology” Scientists have made progress in understanding hair follicle stem cells, identifying specific genes and markers, and suggesting their use in treating hair and skin conditions.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
14 citations,
June 2022 in “BMC genomics” Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
13 citations,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
11 citations,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
11 citations,
April 2019 in “International Journal of Molecular Sciences” Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
9 citations,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
6 citations,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
6 citations,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
6 citations,
January 2013 in “Journal of Veterinary Medical Science” The dog's skin and anemia issues returned after stopping treatment for Babesia gibsoni.
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.
4 citations,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
2 citations,
June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
1 citations,
July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
1 citations,
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.
1 citations,
January 2011 The document concludes that androgenetic alopecia is common, has a genetic link, and can be diagnosed and treated with medications like finasteride and minoxidil.
September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.