11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
5 citations
,
February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
January 2005 in “Experimental Dermatology” Genetic factors play a major role in acne.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
36 citations
,
July 2007 in “Journal of Investigative Dermatology” Certain HLA class II alleles increase or decrease the risk of alopecia areata.
77 citations
,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
6 citations
,
May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
May 2025 in “Texas Digital Library (University of Texas)” Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
1 citations
,
May 2011 in “Molecular Medicine Reports” The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
89 citations
,
August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
2 citations
,
February 2024 in “Medicine” A mutation in the IL2RA gene increases the risk of alopecia areata.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
20 citations
,
October 2005 in “Archives of Dermatological Research”
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
18 citations
,
September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
57 citations
,
November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.