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.
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.
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.
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,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
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.
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.
11 citations,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
7 citations,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” The 2004 hair research meeting presented new findings on hair cell differentiation, genetic factors in hair loss, hair pigmentation, and potential targeted therapies.
30 citations,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
18 citations,
January 2020 in “Ecology and evolution” Genes related to pigmentation, body rhythms, and behavior change during hares' seasonal coat color transition, with a common genetic mechanism in two hare species.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
6 citations,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
78 citations,
August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
53 citations,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
48 citations,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
28 citations,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
7 citations,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
359 citations,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
336 citations,
August 2015 in “European Journal of Epidemiology” The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
290 citations,
December 2017 in “Journal of The American Academy of Dermatology” Alopecia areata is an autoimmune condition causing hair loss, influenced by genetics, stress, and diet, and may be prevented by a high soy oil diet.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
247 citations,
August 2011 in “European Journal of Epidemiology” The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
150 citations,
October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.