8 citations
,
January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
November 2022 in “Scientific Reports” This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.
15 citations
,
June 2011 in “British Journal of Dermatology” This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
January 2003 in “Hepatology”
In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.
57 citations
,
November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
93 citations
,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.
1 citations
,
April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
December 2023 in “Research Square (Research Square)” This study found that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms do not have a significant association with alopecia areata susceptibility in the Egyptian population.
11 citations
,
November 2014 in “Behavior Genetics” 8 citations
,
April 2018 in “Journal of the European Academy of Dermatology and Venereology” This letter discusses azathioprine-induced alopecia and leukopenia potentially linked to NUDT15 polymorphisms, reporting no new clinical results.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” This study reported no significant association between vaspin and visfatin -4689G/T gene polymorphisms and alopecia areata in the Turkish population, although the visfatin GT genotype may pose a risk factor for the condition.
29 citations
,
November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
234 citations
,
November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
288 citations
,
January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
12 citations
,
October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
77 citations
,
April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.