52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
41 citations
,
June 2006 in “Journal of Investigative Dermatology” This study identified three genes with significantly higher expression in androgen-sensitive beard dermal papilla cells compared to androgen-insensitive scalp cells, suggesting potential novel signaling pathways in hair follicles.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the occipital scalp had significantly higher epidermal nerve fiber density than the frontoparietal scalp, which may explain increased sensitivity in some patients.
October 2025 in “International Journal of Reproduction Contraception Obstetrics and Gynecology” This study found that Myoinositol and D-chiro inositol treatment improved fertility outcomes in women with PCOS, particularly in Phenotypes A and D, but larger studies are needed to confirm these results.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
32 citations
,
April 2016 in “Journal of Obstetrics and Gynaecology Research” This study found that women with polycystic ovary syndrome phenotypes A and B had the highest prevalence of metabolic syndrome, and that the visceral adiposity index may help predict metabolic risk.
184 citations
,
August 1983 in “The journal of pediatrics/The Journal of pediatrics” In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
121 citations
,
November 2020 in “Endocrine” This review discusses evidence on androgen sensitivity as a potential factor in COVID-19 disease severity, suggesting that androgen receptor interactions could influence virus entry and progression, and reports no new clinical results.
111 citations
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November 2010 in “Human Reproduction” This study found that young indigenous South Asian women with polycystic ovary syndrome are more likely to be centrally obese and have metabolic syndrome, particularly with increasing age, higher BMI, and acanthosis nigricans.
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.
May 2026 in “International Journal of Drug Delivery Technology” This study reports that using machine learning models, particularly XGBoost and Random Forest, can accurately predict PCOS phenotypes based on non-invasive data, with cycle length as the most significant predictor.
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.
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.
January 2018 in “Springer eBooks” Men and women need different facial rejuvenation treatments due to distinct aging processes and anatomical differences.
62 citations
,
March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
197 citations
,
January 2019 in “Neuropsychopharmacology” This review discusses sex differences in the neuroendocrine response to stress, focusing primarily on rodent studies, and highlights open questions about the roles of gonadal hormones and sex chromosomes.
193 citations
,
August 1985 in “Endocrinology” This study found significant species differences in the enzyme activity and inhibitor affinities of prostatic 5α-reductases from rats, dogs, and humans, with variable potencies for different 3-oxo-4-azasteroid inhibitors across species.
152 citations
,
December 2007 in “Gender Medicine” This review discusses recent advances in understanding gender differences in skin and their implications for dermatologic diseases, but it reports no new experimental results; ongoing research is necessary for translating these insights into clinical practice.
113 citations
,
July 2020 in “Communications biology” This review suggests that understanding the biological and molecular reasons for more severe COVID-19 in men, particularly those at risk for prostate cancer, could improve management of these patients, but reports no new results.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
27 citations
,
February 2020 in “Journal of Cardiovascular Translational Research” This review discusses the role of sex hormones in cardiac hypertrophy and notes that estrogen provides protection against hypertrophy in pre-menopausal women, which is reduced after menopause but partially restored with estrogen therapy.
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.
4 citations
,
January 2013 in “European Journal of Dermatology” Epigenetic differences affect hair loss in identical Japanese male twins.
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.
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.
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.
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.
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.
11 citations
,
February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
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.