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.
124 citations,
December 2016 in “Pharmaceuticals” TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
68 citations,
May 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
58 citations,
December 2020 in “Mayo Clinic Proceedings” The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
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.
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.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
28 citations,
January 2021 in “Parkinsonism & related disorders (Online)/Parkinsonism & related disorders” Parkinson's disease is linked to skin disorders and skin cells help in studying the disease.
28 citations,
February 2019 in “Genes” Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
25 citations,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
24 citations,
March 2018 in “Experimental Dermatology” Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
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.
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.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
17 citations,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
12 citations,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
10 citations,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
7 citations,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
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.
6 citations,
February 2016 in “American Journal of Dermatopathology” The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
5 citations,
March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
4 citations,
November 2022 in “Acta dermato-venereologica” People with hidradenitis suppurativa often have lower vitamin D levels, weaker hip bones, and altered bone metabolism markers.
2 citations,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” Actinic keratosis is a sun-induced skin condition that can potentially turn into skin cancer and requires various treatments to prevent this.