April 2024 in “Prostate international” Male pattern baldness does not cause an increased risk of prostate cancer.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
221 citations,
July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
218 citations,
September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
136 citations,
September 2019 in “Journal of Clinical Investigation” Dermal adipose tissue in mice can change and revert to help with skin health.
105 citations,
April 2014 in “Trends in Pharmacological Sciences” Targeting the Smoothened receptor shows promise for treating certain cancers.
101 citations,
March 2019 in “Cell Stem Cell” Certain immune cells in the skin release a protein that stops hair growth by keeping hair stem cells inactive.
100 citations,
November 2017 in “EMBO Reports” Metabolic signals and cell shape influence how cells develop and change.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
87 citations,
March 2013 in “Expert Review of Anticancer Therapy” Afatinib often causes skin problems that need proactive management.
82 citations,
March 2013 in “PLoS ONE” Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
49 citations,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
46 citations,
October 2018 in “JCI insight” CD8+ T cells are involved in alopecia areata and may cause disease relapse.
39 citations,
April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
36 citations,
August 2022 in “Molecular Therapy — Nucleic Acids” Gene therapy shows promise for healing chronic wounds but needs more research to overcome challenges.
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.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
34 citations,
June 2015 in “Journal of cardiovascular pharmacology and therapeutics” Direct vasodilators and sympatholytic agents are still useful for certain conditions despite being less common due to side effects and newer drugs.
33 citations,
April 2020 in “Journal of Clinical Investigation” Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
31 citations,
November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
29 citations,
March 2021 in “Frontiers in Endocrinology” Testosterone may influence COVID-19 severity and outcomes.
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.