16 citations
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September 2004 in “Pediatric dermatology” This study found that children and adolescents with allergic diseases have significantly longer eyelashes compared to nonallergic controls.
March 2023 in “İnönü Üniversitesi Sağlık Hizmetleri Meslek Yüksek Okulu Dergisi” This study found that metabolic syndrome prevalence was significantly higher in obese patients with polycystic ovary syndrome, but no difference was observed among the different phenotypes.
24 citations
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January 2001 in “International Journal of Cancer” This study from Los Angeles supports the idea that using permanent hair dye may increase bladder cancer risk in US women, especially those with a slow NAT2 acetylation phenotype.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
November 2025 in “BMC Genomics” This study identified genetic differences between Australian White Sheep and Hu Sheep that may explain their distinct pelage types, with a focus on subcutaneous adiposity and immunoregulation. The findings suggest potential targets for breeding climate-resilient sheep, enhancing our understanding of heat tolerance in these breeds.
1 citations
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September 2019 in “Journal of cosmetic dermatology” This study found no significant difference in serum levels of lead and selenium between patients with premature hair graying and those without it.
7 citations
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September 2006 in “Molecular Carcinogenesis” This study observed that K5Cre +/+ transgenic mice develop a distinct phenotype characterized by wavy hair, curly whiskers, and an increased rate of papilloma malignant transformation.
25 citations
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January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
This study found no predictive link between mothers’ PCOS symptoms and the adolescent phenotype, but identified certain gene alleles associated with higher testosterone levels in affected adolescents.
March 2026 in “Pigment Cell & Melanoma Research” At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.
12 citations
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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.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study observed that the choice between using Belimumab and Anifrolumab for treating active Systemic Lupus Erythematosus was mainly based on clinical phenotype, with Anifrolumab linked to chronic-active disease and Belimumab associated with relapsing-remitting disease.
June 2020 in “Annals of the Rheumatic Diseases” This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.
This study found that bovine slick mutations may enhance heat stress responses in mice but do not lead to the expected hair phenotype changes.
This study found that transgenic expression of Endothelin 3 in mice can maintain a dark pigmentation phenotype independently of Mc1r signaling by regulating melanogenic genes.
354 citations
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February 2011 in “Genes & Development” This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
14 citations
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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.
10 citations
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May 2017 in “Symmetry” This study observed that among !Kung San males, adult androgen levels, particularly DHT, were negatively associated with indicators of fluctuating and directional asymmetry, suggesting a link to phenotype quality.
2 citations
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December 2022 in “International Journal of Infertility & Fetal Medicine” This study found that women with PCOS who are obese had an altered lipid profile and increased waist-hip ratio compared to lean counterparts, without differences in endocrine parameters.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
1 citations
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September 2019 in “Journal of Investigative Dermatology” This study developed a pemphigus model in mice showing that anti-Desmocollin 3 and anti-Desmoglein 3 antibodies lead to more severe disease, suggesting diverse antigens contribute to varying human pemphigus phenotypes.
August 2026 in “Tropical Journal of Pharmaceutical and Life Sciences” This study highlights that insulin resistance is a key pathological feature for individuals with PCOS, particularly those with obesity, affecting the response of specialized cells and leading to increased inflammation, regardless of Body Mass Index differences within the PCOS population.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
4 citations
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January 2015 in “Endocrinology & metabolic syndrome” This article discusses the role of testosterone in the formation of male characteristics, muscle and bone development, and its impact on skin and hair, but provides no new clinical results.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study using a mouse model, researchers found that expressing Lef1 in dermal fibroblasts may enhance skin regeneration without affecting normal development.
23 citations
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May 2009 in “International Journal of Dermatology” In this study, no association was found between the AR gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for predisposition.
December 2025 in “Cureus” This study suggests that elevated levels of IL-17A and IL-23 in alopecia areata may play roles in disease severity and activity, providing insights into potential therapeutic targets.