76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
January 2024 in “International Journal of Biochemistry and Molecular Biology” This study found that Iraqi women with PCOS who carry the reference wild type alleles of OCT1 had a significant hormonal and metabolic response to metformin, unlike those with mutant alleles.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
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.
37 citations
,
January 2008 in “Gynecological Endocrinology” This study found that in women with polycystic ovary syndrome, shorter CAG repeat lengths in the androgen receptor gene were associated with lower dihydrotestosterone and androstenedione levels, but a higher prevalence of acne and hirsutism.
36 citations
,
January 2017 in “Journal of Obstetrics and Gynaecology Research” This review discusses the association between vitamin D receptor polymorphisms and polycystic ovary syndrome, noting the need for further research on their impact on the disorder's manifestations.
23 citations
,
May 2009 in “International Journal of Dermatology” In this study, no association was found between the AR gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for predisposition.
14 citations
,
January 2008 in “Gene therapy” Gene therapy shows promise for enhancing physical traits but faces ethical, safety, and regulatory challenges.
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.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
1 citations
,
October 2014 in “Skin Pharmacology and Physiology” This study found that osteopontin expression was significantly higher in alopecia areata lesions compared to healthy controls, suggesting it may play a role in the disease's pathogenesis.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
January 2025 in “Pakistan Journal of Health Sciences” This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
60 citations
,
January 2007 in “Human Genetics” In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.
47 citations
,
July 2004 in “Journal of Dermatological Science” In this study, decreased expression of BMP2 and ephrin A3 and increased NT-4 gene expression were observed in dermal papilla cells from androgenic alopecia-affected skin, suggesting potential roles in hair growth regulation.
28 citations
,
August 2003 in “Steroids” This study found that untreated hirsute patients have lower expression of type 2 17β-HSD mRNA in scalp hairs, indicating potential disturbances in androgen metabolism, compared to treated hirsute patients.
17 citations
,
July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
15 citations
,
December 2013 This study found that in men with androgenic alopecia, moderate to severe cases were associated with the AA genotype of rs1160312, blood vanadium concentrations, and regular consumption of soy bean drinks.
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.
15 citations
,
November 2015 in “Trends in biotechnology” This article discusses strategies for changing hair color by regulating target genes in hair follicles using advanced delivery systems, but it reports no new experimental findings.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” This case series found that patients with the NUDT15 415C>T variant experienced severe azathioprine toxicity, suggesting genotype-based dosing could reduce adverse effects.
6 citations
,
October 2017 in “Oncotarget” In this study, NIH hairless mice showed increased susceptibility to Listeria monocytogenes infection compared to NIH mice, potentially due to differences in gut microbiota and monocyte levels.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
2 citations
,
April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
1 citations
,
October 1996 in “Journal of Cutaneous Medicine and Surgery” This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
June 2025 in “Turkish Journal of Dermatology” This study found that patients with acne vulgaris had significantly lower serum paraoxonase 1 (PON1) activity compared to healthy controls, suggesting that oxidative stress might play a role in the condition's development.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.