36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
9 citations
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December 2023 in “BMC Genomics” This study examined noninvasive tissue samples, including buccal swabs, hair follicles, saliva, and urine cell pellets, and found hair follicles and urine cell pellets promising for transcriptomic and clinical analyses due to their sample quality and performance in disease-relevant applications.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
April 2026 in “Frontiers in Immunology” In this study, researchers did not find any genome-wide significant genetic signals linked to comorbid chronic inflammatory disorders in patients with alopecia areata, but exploratory analysis suggested potential associations worth further study.
23 citations
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March 2001 in “Clinics in dermatology” This study found that 363 genes were differentially expressed in alopecia areata skin compared to non-lesional skin, suggesting T-cell mediated immune responses and distinct gene profiles related to the disease's stage.
10 citations
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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.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
60 citations
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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.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
51 citations
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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.
27 citations
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January 2010 in “Animal” In these studies, researchers found that Peruvian camelids reach mature skin follicle development early, with specific cuticular characteristics useful for distinguishing fleece types, while Bolivian llamas have a mature follicle apparatus present at birth.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
10 citations
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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.
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.
5 citations
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May 2019 in “Archives of Dermatological Research” This study reported that narrowband UVB treatment significantly increased WNT7B, WNT10B, and TCF7L2 gene expression in lesional skin of psoriasis patients, suggesting these genes may play a role in psoriasis pathogenesis.
This review explores the risk factors, associated comorbidities, and psychological impacts of early-onset androgenetic alopecia, highlighting its complexity and potential implications for treatment response and overall health.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
July 2004 in “British Journal of Dermatology” This paper summarizes the main findings presented in the plenary sessions of the British Journal of Dermatology, July 2004 issue, and provides no new research results.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
59 citations
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September 2007 in “Biochemical and Biophysical Research Communications” This study found that a gain-of-function mutation in the TRPV3 channel leads to altered hair development in DS-Nh mice by affecting the anagen and telogen phases, highlighting TRPV3's role in hair growth regulation.
55 citations
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August 2008 in “Reviews in endocrine and metabolic disorders” This review discusses clinical, hormonal, and genetic aspects of nonclassic adrenal hyperplasia and reports no new findings; the condition is highlighted as a potential cause of premature adrenarche and other symptoms in young people.
34 citations
,
August 2002 in “British Journal of Dermatology” This study observed that two patients treated with interferon α-2b and ribavirin for chronic hepatitis C experienced complete and reversible straightening of their natural curly hair, which recurred with treatment resumption.
23 citations
,
August 2017 in “Scientific Reports” Darker hair may lead to higher cortisol readings, suggesting a need to adjust for hair color in studies.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
6 citations
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January 2007 in “Journal of the European Academy of Dermatology and Venereology” Mercury allergy linked to specific genes may contribute to burning mouth syndrome, and silicon might play a role in maintaining healthy hair.
This study developed a new analytical method to identify a wide range of endocrine disrupting compounds in full-term amniotic fluid, revealing diverse substances with potential endocrine activity.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.