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.
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.
2 citations
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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.
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.
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.
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.
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.
54 citations
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May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
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.
9 citations
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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.
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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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
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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.
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.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
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.
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.
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.
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.
7 citations
,
August 2019 in “Endokrynologia Polska” This study reported that women with metabolic PCOS phenotype have free androgen index values approximately twice as high as those with the reproductive phenotype.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that targeting skin-infiltrated memory phenotype T cells could offer a new therapeutic approach to manage lymphopenia-related diseases like graft-versus-host disease and immune reconstitution inflammatory syndrome.
23 citations
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March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
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.
This study observed that women with PCOS had significant differences in body composition and some physiological markers compared to healthy women, which may have implications for pregnancy outcomes and long-term health risks.
125 citations
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August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.