31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
28 citations
,
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.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
18 citations
,
November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
8 citations
,
March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
5 citations
,
October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
June 2025 in “Turkish Journal of Dermatology” This study found that patients with acne vulgaris had significantly lower serum paraoxonase 1 (PON1) activity compared to healthy controls, suggesting that oxidative stress might play a role in the condition's development.
19 citations
,
August 2013 in “Facial Plastic Surgery Clinics of North America” This article discusses the evolution and variation of hairlines in men and women across different ages, introducing a modeling system to standardize the anatomical description of hairlines, without reporting new experimental findings.
120 citations
,
June 2008 in “American Journal of Epidemiology” This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.
76 citations
,
December 2006 in “Journal of Dermatological Science” This study observed that Japanese women experience diffuse central hair loss after age 40, characterized by reduced hair density and thicker hair ratio rather than vellus-like hairs.
67 citations
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February 2010 in “Acta Obstetricia et Gynecologica Scandinavica” In this study, hirsutism in women with PCOS was strongly associated with hyperandrogenism and metabolic abnormalities, while acne and androgenic alopecia were not effective markers for hyperandrogenism.
7 citations
,
March 2017 in “Journal of dermatology” This review outlines the clinical and histopathological features that aid in classifying tumors arising from the folliculosebaceous apparatus and reports no new research results.
4 citations
,
June 2021 in “Scientific Reports” This study found that examining hair morphology provides deeper insights than classification, suggesting a potential population stratification artefact between hair curvature and cross-sectional shapes in the examined admixed African-European sample.
2 citations
,
June 2022 in “Northern Clinics of Istanbul” This study found no significant difference in the prevalence of PCOS between women with and without PSD, although some clinical and blood parameters did differ.
1 citations
,
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a new high-throughput method for analyzing scalp hair morphology and found that quantifying hair form provides more accurate information than traditional classification based on racial categories, challenging the belief that cross-sectional morphology predicts hair curvature.
April 2022 in “Research Square (Research Square)” This study found that long COVID symptoms vary over time, with pulmonary symptoms improving the most, while hair loss showed the poorest treatment outcomes and several factors like smoking slowed recovery.
January 2016 in “International Journal of Reproduction Contraception Obstetrics and Gynecology” This study found that insulin resistance varies across different PCOS phenotypes, with the PCOM+MI+HA phenotype showing higher resistance than others.
April 2019 in “Journal of Investigative Dermatology” This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
53 citations
,
September 2014 in “Reproductive Biology and Endocrinology” This study observed that among women with polycystic ovary syndrome, those with the most severe phenotype showed the highest levels of metabolic disturbances, indicating the need for metabolic screening in these cases.
42 citations
,
July 2017 in “Scientific Reports” This study found that insulin resistance was significantly associated with PCOS among infertile women with central obesity, highlighting differences in insulin and phenotype severity.
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
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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.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
1 citations
,
May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
86 citations
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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.
December 2025 in “Reports of Morphology” This study found that young adult Ukrainian men with alopecia areata had significantly different skinfold thickness at several body sites compared to healthy peers, suggesting unique patterns of fat distribution associated with the disease.
16 citations
,
February 2016 in “Gynecological Endocrinology” This study observed two distinct phenotypes among North Indian women with PCOS: obese hyperinsulinaemic dysglycemic women from Delhi and lean hyperandrogenic women from Srinagar, despite being in the same region.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.