37 citations
,
October 2015 in “European Journal of Human Genetics” This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
January 2024 in “Research Square (Research Square)” This study identified robust susceptibility genes and potential drug candidates for male-pattern baldness, providing insights into the condition's molecular mechanisms.
October 2023 in “Journal of pharmaceutical investigation” In this study, researchers found that among healthy Korean males, the clearance of finasteride was about 34% lower in individuals with the CYP3A5*3 homozygous allele compared to other genotypes, suggesting dosage adjustments may be necessary considering CYP3A5 and ALT levels to avoid adverse effects.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
This study found that a data-driven model using XGBoost effectively predicts individualized responses to minoxidil for androgenetic alopecia, outperforming traditional methods in accuracy and reliability.
April 2024 in “American Journal of Biological Anthropology” This study suggests moving away from using rigid racial categorizations and outdated typologies in favor of analyzing detailed trait patterns, providing a foundation for future research on human variation and hair traits in relation to population affinity.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
18 citations
,
June 2019 in “Twin research and human genetics” This article describes the 25Up study on psychological and behavioral risk factors for mental illness in Australian twins and their siblings and reports prevalence data for various mental disorders.
55 citations
,
December 2021 in “BMC Veterinary Research” This study identified several candidate genes related to wool production traits and adaptation to hot, arid environments in Iranian sheep, highlighting potential targets for future inbreeding programs.
October 2023 in “Pediatric dermatology” This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.
2 citations
,
November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
157 citations
,
October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
45 citations
,
May 2003 in “Journal of Cell Science” This study found that α3β1-integrin is crucial for maintaining normal hair follicle morphology in mice, as its deficiency leads to severe abnormalities despite not affecting interfollicular epidermal differentiation.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
This study reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
5 citations
,
July 2019 in “Applied statistics/Journal of the Royal Statistical Society. Series C, Applied statistics” In this study, applying case-only trees and random forests to a prostate cancer prevention trial revealed genotypes that may influence the efficacy of finasteride for prostate cancer prevention.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
14 citations
,
January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
January 2024 in “Wiadomości Lekarskie” This analysis of England's National End of Life Care Intelligence Network reports that the initiative improved palliative care using national data, addressing disparities in care especially among the poorest patients and those from non-white ethnicities over 14 years.
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.
In this study with mice, simultaneous inactivation of Smad4 and PTEN genes led to rapid development of invasive forestomach squamous cell carcinomas, mirroring human esophageal SCCs.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.