January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
A specific gene change in APCDD1 increases the risk of hair loss.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
17 citations
,
February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” Understanding the APCDD1 gene can lead to new hair loss treatments.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
11 citations
,
June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.