June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
1 citations
,
August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
45 citations
,
August 2023 in “Trends in Cell Biology” Controlling cellular changes can enable safe rejuvenation without cancer risk.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
1 citations
,
January 2025 in “medRxiv” Trichotillomania may have a genetic link to psychiatric disorders.
12 citations
,
May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
17 citations
,
August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
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.
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.
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.
130 citations
,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Estrogen Receptor ß (ERß) is the main hormone controller in human skin and hair follicles, not Estrogen Receptor α (ERα) or the Androgen Receptor (AR).
107 citations
,
December 2003 in “Dermatologic Therapy” Interferon, especially alfa interferon, is an effective treatment for cutaneous T-cell lymphoma with manageable side effects.
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.
86 citations
,
August 2011 in “Toxicological sciences” TCDD speeds up skin barrier formation by increasing certain gene expressions.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
72 citations
,
April 2008 in “Organogenesis” Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
71 citations
,
March 2009 in “Seminars in cutaneous medicine and surgery” Alopecia areata can cause unpredictable hair loss, and treatments like corticosteroids and minoxidil may help but have varying side effects.