Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

In this Mendelian randomization study, shortened leukocyte telomere length was associated with an increased risk of androgenetic alopecia, but no causal relationship was found with alopecia areata.

In this study, a computational analysis of promoter regions in human fertility-related genes identified several new candidate regulatory motifs, but these require further experimental validation due to the limitations of being an in silico examination.

In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.

This study used whole-genome sequence data to identify numerous putative causal variants and genes affecting key wool traits and skin wrinkle in Merino sheep, highlighting their polygenic and pleiotropic nature.

In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.

This paper discusses prostate cancer diagnosis and treatment controversies and advocates for individualized approaches, reporting no new findings.

This review discusses the complex genetic factors contributing to androgenetic alopecia, highlighting the variability in genetic risk across different populations and the emerging understanding of personalized treatment strategies, but reports no new clinical findings.

This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.

This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.

This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.

In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.

This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.

In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.

This study demonstrates that the CRISPR-Cas9 system can be used to successfully edit genes in large mammals, such as Cashmere goats, creating a valuable model for research on EDAR gene-related phenotypes.

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.

According to this study, forensic DNA phenotyping using Next Generation Sequencing can reliably predict certain visible traits like eye, hair, and skin color, though its routine implementation in forensics is hindered by incomplete genetic knowledge and ethical concerns in some countries.

This study identified core genes and pathways involved in androgenetic alopecia, finding that genes related to hair follicle development are down-regulated, while those linked to immune responses are up-regulated, highlighting potential therapeutic targets.

This study found that human skin grafted onto certain immunodeficient mice resulted in proliferative scars with characteristics similar to human hypertrophic scars, suggesting these models may better represent the condition's natural history.

This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

In this study, researchers identified 32 differentially expressed genes involved in androgenetic alopecia, with down-regulated genes associated with Wnt and TGF-beta signaling and up-regulated genes linked to oxidative stress pathways.

In this study, researchers identified that certain inflammatory cytokines, including osteoprotegerin and leukemia inhibitory factor, are inversely associated with hypertrophic scar risk, whereas others like CDCP1, GDNF, and PD-L1 show a positive association, suggesting potential pathways for intervention in scar formation.

In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.

This thesis explores both environmental and genetic factors in prostate cancer, focusing on surrogate hormone markers, medical radiation, family history, and genetic polymorphisms related to DNA repair and hormone marker genes, but reports no new clinical findings.

This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.

This study found that the proposed Bayesian measurement-error-driven hidden Markov regression model effectively calibrated inflated covariate effect sizes in a community-based survey on androgenetic alopecia regardless of misclassification type.

This study found that in mice, the epidermal microenvironment reverses the oncogenic effects of GNAQQ209L in melanocytes, inhibiting their survival and proliferation through paracrine signals.

This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.

This study explores the potential connection between circulating cytokines and immune skin diseases, offering insights that may enhance understanding of their causes, diagnosis, and treatment approaches.