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.
124 citations,
June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
74 citations,
March 2001 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
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.
991 citations,
January 2011 in “Nature Reviews Endocrinology” The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
430 citations,
July 2002 in “Journal of Endocrinology” The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
16 citations,
December 2012 in “The Clinical Journal of Pain” Chronic scalp pain in trichodynia involves both body-wide and localized increased pain sensitivity.
12 citations,
May 2017 in “Journal of Dermatological Treatment” Adult acne severity is influenced by stress, skin sensitivity, makeup, stopping oral contraceptives, and requires female-specific treatment guidelines.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The back of the scalp has more nerve fibers than the front, which may explain why some people feel more sensitivity there.
266 citations,
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.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
40 citations,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
25 citations,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
23 citations,
April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
13 citations,
August 2017 in “Scientific reports” Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
11 citations,
May 2021 in “Journal of Medical Virology” Men are more likely to have severe respiratory viral infections like COVID-19 due to hormonal and genetic differences, while women generally have stronger immune responses.
1 citations,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
Any medication can cause skin reactions, some due to allergies and others due to dosage or genetic factors.
11 citations,
June 2011 in “Expert Review of Dermatology” Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
65 citations,
May 2010 in “Current Women's Health Reviews” Oxidative stress is a key factor in the development of Polycystic Ovary Syndrome, and weight management can improve symptoms.
50 citations,
August 2017 in “Diabetologia” Metformin has limited effectiveness for improving PCOS symptoms and lacks clear benefits, needing more research to confirm its efficacy.
6 citations,
August 2014 in “Toxicologic pathology” Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
75 citations,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.