5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
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.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
11 citations
,
December 2013 in “International Journal of Dermatology” This study found that variations in the IL16 gene, specifically SNPs rs17875491 and rs11073001, may be associated with increased risk and phenotype expression of alopecia areata in the Korean population.
August 2024 in “Clinical and Medical Engineering Live” This abstract highlights that alopecia treatment requires moving beyond outdated methods to a sophisticated approach that considers the complex interplay between genetic susceptibility and immune response in different types of hair loss. Results are not reported.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
September 2022 in “Frontiers in Immunology” This study reports that comorbidities and anti-androgen therapy were associated with lower SARS-CoV-2 vaccination rates among patients with androgenetic alopecia, emphasizing the need to promote vaccination within this group.
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.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
December 2025 in “Regenerative Biomaterials” In this study, researchers developed a responsive bilayer hydrogel for diabetic wounds that delivers drugs and oxygen in sync with healing stages, achieving a 99.1% wound closure rate in 14 days by integrating anti-inflammatory, antibacterial, and anti-fouling functions.
13 citations
,
February 1999 in “International Journal of Cosmetic Science” This study observed a higher incidence of telogen effluvium from July to October, suggesting a summer-related effect in populations above the Tropic of Cancer, possibly influenced by ultraviolet light.
32 citations
,
February 2017 in “Oncotarget” This workshop review discusses the dual role of cellular senescence in cancer, highlighting both its anticancer effects and pro-tumorigenic potential, while reporting no new research results.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
April 2018 in “Journal of Investigative Dermatology” This study found that the cell of origin in mouse skin affects melanoma phenotype and response to therapies, despite the presence of the same genetic mutations.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
36 citations
,
July 2007 in “Journal of Investigative Dermatology” This study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
21 citations
,
May 2019 in “Pediatrics in review” This review examines primary and secondary immunodeficiencies, focusing on how healthcare providers can recognize and manage these conditions in children; it reports no new clinical results.
6 citations
,
December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
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.
July 2013 in “Neurosurgery” This review discusses the use of spinal fMRI to investigate the brainstem and spinal cord and highlights its potential for understanding functional integration, but it reports no new experimental results.
883 citations
,
August 2016 in “Nature Reviews Disease Primers” This review discusses the current understanding of polycystic ovary syndrome, focusing on its epidemiology, pathophysiology, diagnosis, management, and future research directions, but reports no new clinical results.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
86 citations
,
October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
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.
32 citations
,
January 2012 in “Clinical & Developmental Immunology” In this study, rheumatoid arthritis patients showed no changes in the number of circulating follicular helper T cells, but these cells had increased CD200 expression, implicating them in disease pathogenesis and suggesting CD200/CD200R as a potential therapeutic target.
7 citations
,
June 2021 in “Trends in Food Science and Technology” This commentary reviews potential dietary and mineral influences on androgenetic alopecia and suggests considering a diet low in cholesterol and glycaemic index with improved glucose control and magnesium fortification, without new clinical results.