89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
October 2023 in “BMC endocrine disorders” A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
February 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
2 citations
,
January 2020 in “Benha Journal of Applied Sciences” 8-OHdG may help diagnose and assess alopecia areata.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
79 citations
,
February 2009 in “Human Genetics”
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
308 citations
,
September 2010 in “Nucleic acids research” Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
242 citations
,
February 2016 in “Science” Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
237 citations
,
December 2001 in “Urology” Blocking the enzyme 5α-reductase can shrink the prostate and help treat enlarged prostate issues.
234 citations
,
September 2004 in “Clinical cancer research” BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
218 citations
,
December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
153 citations
,
March 2017 in “Endocrine” Male pattern baldness involves genetics, hormones, and needs better treatments.
149 citations
,
July 2002 in “Dermatologic clinics” Patients with certain skin symptoms and high ANA titers should be monitored for potential systemic lupus.
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.
134 citations
,
February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
133 citations
,
February 2017 in “PLoS Genetics” Genetic factors can help predict male pattern baldness risk.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
107 citations
,
December 2003 in “Dermatologic Therapy” Interferon, especially alfa interferon, is an effective treatment for cutaneous T-cell lymphoma with manageable side effects.
100 citations
,
April 2010 in “Expert Opinion on Pharmacotherapy” Hair loss in men treated best with early medication or transplant, new treatments researched.
93 citations
,
February 2009 in “Annals of the New York Academy of Sciences” 5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
93 citations
,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.