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.
37 citations
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October 2024 in “JAMA Network Open” This study found that among reproductive-age women across India, there was a high prevalence of PCOS, with phenotype C being predominant and most women exhibiting metabolic abnormalities, highlighting the importance of integrating PCOS management into national health strategies.
32 citations
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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.
9 citations
,
March 2022 in “Frontiers in Endocrinology” This study found that PCOS is common among Iranian women, with phenotypes involving hyperandrogenism exhibiting worse lipid profiles and higher rates of metabolic syndrome compared to healthy women.
2 citations
,
April 2021 in “Reproductive health of woman” This study found that among women with PCOS, the most common clinical symptoms were menstrual dysfunction, infertility, acne, and hirsutism, with the non-androgenic phenotype being the most frequently identified.
1 citations
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November 2023 in “Reproductive biology and endocrinology” This study found that among Iranian women with PCOS, phenotype B displayed the highest prevalence of insulin resistance, significantly differing from other phenotypes, suggesting phenotype could guide management of PCOS-related insulin issues.
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.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
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.
5 citations
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March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
3 citations
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March 2024 in “Frontiers in Cell and Developmental Biology” This study observed that both prenatal androgen exposure and postnatal early-life environment influence the development of PCOS-like phenotypes and changes in the gut microbiota in prenatally androgenized offspring.
19 citations
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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.
June 2026 in “International Journal of Medical Science and Dental Health” In this study, researchers found that women with Type 2 Diabetes Mellitus and hair loss had significantly lower levels of ferritin, zinc, and vitamin D compared to men, and constructed a validated risk score to predict severe nutrient deficiencies in these patients.
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.
50 citations
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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
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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.
35 citations
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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.
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.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
9 citations
,
March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
5 citations
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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.
2 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that darker hair is typical in wetter regions for the Indriidae family, while within Propithecus, dark black hair is common in colder forests, suggesting evolutionary adaptations to environmental pressures.
1 citations
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September 2025 in “Frontiers in Immunology” In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
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.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
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.
86 citations
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June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.