403 citations
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December 2018 in “Cell stem cell” This study suggests that phenotypic plasticity, including processes like dedifferentiation and transdifferentiation, plays a crucial role in cancer initiation, progression, and therapy resistance, broadening our understanding of cancer dynamics and potential treatment strategies.
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.
62 citations
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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.
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.
37 citations
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August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
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.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
12 citations
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April 2015 in “BMC research notes” This study found that root hairs in maize, wheat, and finger millet continued to grow beyond the typical root hair zone when grown with the Turface® fertigation system, highlighting potential for understanding root hair dynamics and crop improvement.
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.
5 citations
,
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.
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
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
3 citations
,
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.
2 citations
,
May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
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.
1 citations
,
August 2022 in “Plant Signaling & Behavior” This study found that certain growth media combinations influence the development of Arabidopsis thaliana root hairs, identifying specific conditions that promote the growth of the longest root hairs.
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.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study highlights the potential of forensic DNA phenotyping using Next Generation Sequencing to predict eye, hair, and skin color, aiding criminal investigations, though adoption faces challenges due to incomplete genetic understanding and ethical, social, and legal concerns.
May 2023 in “GSC biological and pharmaceutical sciences” According to this study, forensic DNA phenotyping using Next Generation Sequencing can reliably predict certain visible traits like eye, hair, and skin color, though its routine implementation in forensics is hindered by incomplete genetic knowledge and ethical concerns in some countries.
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.
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.
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.
April 2024 in “Journal of clinical medicine” The research observed that among Ecuadorian Andean women with polycystic ovary syndrome, classical phenotypes A and B were more prevalent and associated with higher risks of insulin resistance and metabolic disorders compared to phenotypes C and D.
In this study of Andean Ecuadorian women with PCOS, phenotypes A and B were more prevalent and associated with higher risks of insulin resistance, anovulation, and metabolic disorders compared to phenotypes C and D.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
52 citations
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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.
28 citations
,
April 2013 in “Fertility and Sterility” This study found that Caucasian and Asian women with PCOS in the San Francisco Bay Area had a similar prevalence of androgen excess, including hirsutism, across most measures.
28 citations
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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.