1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
6 citations,
February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
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.
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.
23 citations,
January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
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.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
21 citations,
February 2013 in “Clinics in Dermatology” New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
3 citations,
May 2023 in “Frontiers in immunology” Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
74 citations,
June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
September 2022 in “Scientific Reports” Scalp melanoma is more common and easier to diagnose early in people with androgenetic alopecia due to sun damage.
5 citations,
July 2019 in “Applied statistics/Journal of the Royal Statistical Society. Series C, Applied statistics” Case-only trees and random forests improve predictions of treatment effects in clinical trials.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
21 citations,
June 2002 in “PubMed” The conclusion is that there might be a link between certain types of baldness and prostate cancer, which could be due to shared hormonal pathways.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
13 citations,
September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
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.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.