81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
68 citations
,
May 2011 in “European Journal of Dermatology” Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
58 citations
,
December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
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.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
43 citations
,
November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
39 citations
,
September 2017 in “The Open Rheumatology Journal” This review discusses the role of complement activation in SLE and suggests that while monitoring C3 and C4 remains important, increased levels of cell-bound complement activation products may better indicate disease activity.
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.
29 citations
,
June 2013 in “Journal of the Saudi Society of Dermatology & Dermatologic Surgery” This review outlines the mechanisms, clinical features, and management strategies for alopecia areata and presents no new experimental findings.
27 citations
,
April 2020 in “Molecular Biology and Evolution” This study found that ancient and modern Chinese goats share close genetic ties, originating from the Fertile Crescent, with genetic divergence influenced by China's climatic divisions.
26 citations
,
December 2015 in “Journal of The European Academy of Dermatology and Venereology” This article introduces a new grading system called the FPHL Severity Index to better identify and monitor early stages of female pattern hair loss using clinical criteria.
24 citations
,
June 2018 in “Reviews in endocrine and metabolic disorders” This review discusses the epidemiology, clinical manifestations, and pathogenesis of autoimmune skin diseases and their associations with thyroid diseases, reporting no new clinical results.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
23 citations
,
April 2021 in “Journal of Clinical Medicine” This review compiles existing data on frontal fibrosing alopecia and highlights the promise of 5-alpha reductase inhibitors as a treatment option, while noting the need for clarity on its cause and progression.
20 citations
,
September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
16 citations
,
April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
13 citations
,
August 2017 in “Scientific reports” This study designed a 66 K SNP chip using solution hybrid selection for cashmere goats, reporting SNP call rates between 95.3% and 99.8% and demonstrating its utility in genomic analyses, suggesting potential application for other species.
12 citations
,
September 2017 in “Molecular and Cellular Endocrinology” This review analyzes how androgens impact sexual desire and reproductive behaviors, emphasizing molecular interactions, but provides no new clinical results.
10 citations
,
June 2020 in “Journal of Cosmetic Dermatology” This study found a high prevalence of genital Lichen sclerosus and autoimmune comorbidities in patients with frontal fibrosing alopecia, suggesting a possible shared autoimmune process.
10 citations
,
February 2019 in “Toxicological Sciences” This study reports that chemically induced short anogenital distance in male rat fetuses involved distinctive transcriptional changes, suggesting roles for estrogen and Wnt2 signaling in anogenital tissue development.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
6 citations
,
November 1988 in “Journal of the American Academy of Dermatology” The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.