38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
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.
87 citations
,
March 2011 in “Australasian Journal of Dermatology” Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
87 citations
,
July 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Human beard hair medulla contains a unique and complex mix of keratins not found in other human tissues.