27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
51 citations
,
March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
66 citations
,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
The combination of high-dose toremifene and capecitabine was effective for advanced recurrent breast cancer.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
10 citations
,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
5 citations
,
July 2021 in “Endocrinology, diabetes & metabolism” Glioblastoma cells can make androgens, which might help the tumor grow.
19 citations
,
May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
December 2006 in “Lancet Oncology” The document concludes that better training and education are needed for proper cancer screening and criticizes the GMC's inaction as harmful to clinical ethics in the UK.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
Bcl-2 helps hair regeneration but can also increase cancer risk.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
December 2025 in “npj Breast Cancer” Capivasertib improves survival in certain breast cancer cases but requires careful management of side effects.
March 2010 in “Ejc Supplements” CK 5/6 expression in breast cancer is linked to negative hormone receptor status and higher tumor grade.
50 citations
,
January 2016 in “The FEBS journal” RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
3 citations
,
October 2024 in “All Life” New treatments targeting genetic mutations in lung cancer are needed for better outcomes.
6 citations
,
April 2013 in “Current Dermatology Reports” Dermatologists are crucial for managing skin side effects in metastatic melanoma patients using vemurafenib and ipilimumab.
11 citations
,
November 2014 in “Behavior Genetics” May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
333 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.