11 citations,
November 2021 in “JBMR plus” The vitamin D receptor can act without its usual activating molecule, affecting hair growth and skin cancer, but its full range of actions is not well understood.
119 citations,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
17 citations,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
54 citations,
January 2016 in “Cell reports” Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
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.
3 citations,
February 2018 in “Human Reproduction” A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
128 citations,
October 2011 in “Development” Activating a protein called β-catenin in adult skin can make it behave like young skin, potentially helping with skin aging and hair loss.
81 citations,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
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.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
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.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
384 citations,
June 2005 in “Genes & development” β-catenin is essential for stem cell activation and proliferation in hair follicles.
232 citations,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
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.
15 citations,
July 2013 in “Cell Reports” Indian Hedgehog helps control skin cell growth and protects against aggressive skin cancer.
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.
93 citations,
October 2006 in “The International Journal of Biochemistry & Cell Biology” Melanocytes are crucial for skin pigmentation and can affect conditions like melanoma, vitiligo, and albinism, as well as hair color and hearing.
70 citations,
October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
37 citations,
April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
30 citations,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
16 citations,
May 2011 in “The Journal of clinical investigation/The journal of clinical investigation” Some skin tumors may start from hair follicle stem cells.
29 citations,
July 2013 in “Journal of Investigative Dermatology” UV radiation causes skin cancer, but sunscreens and certain drugs can help prevent it.
854 citations,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.