June 2026 in “Biomolecules and Biomedicine” This study found that women with PCOS had higher levels of serum phoenixin isoforms, which correlated with reproductive and metabolic markers, suggesting these isoforms may have a potential diagnostic role.
99 citations
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February 2000 in “PubMed” This study found that overexpression of PKCepsilon in transgenic mice reduced papilloma development but accelerated carcinoma formation in a skin tumor promotion model.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
60 citations
,
April 2003 in “Human Reproduction” This study found that Czech women with polycystic ovary syndrome in their thirties had a significantly worse cardiovascular risk profile compared to a control group, independent of obesity.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
January 2025 in “Pakistan Journal of Health Sciences” This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.
10 citations
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January 2013 in “Journal of skin cancer” In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.
January 2021 in “International Journal of Research in Pharmaceutical Sciences” This review discusses the diagnosis and treatment strategies for polycystic ovary syndrome, particularly using the "MY PCOS" mnemonic, and reports no new experimental results.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
9 citations
,
February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
4 citations
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April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
January 2006 in “Atherosclerosis Supplements” This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
35 citations
,
January 2006 in “Cancer Research” This study found that overexpressing PKCδ in transgenic mice did not reduce squamous cell carcinoma development induced by UV radiation, despite its effectiveness against TPA-promoted cancer in these mice.
21 citations
,
July 2016 in “Gynecological Endocrinology” This study found that women with polycystic ovary syndrome have elevated cardiovascular risk markers, with levels being higher in obese participants compared to non-obese participants.
In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
87 citations
,
September 2006 in “Clinical Cancer Research” This article reviews the diverse roles of protein kinase C (PKC) isozymes in cancer biology, highlighting their potential as therapeutic targets, but reports no new experimental results.
6 citations
,
December 2021 in “International Journal of Endocrinology” This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
December 2020 in “International Journal of Research in Pharmaceutical Sciences” This review analyzes the mnemonic MY PCOS, exploring diagnosis and treatment strategies for the metabolic, cosmetic, and reproductive complications of polycystic ovary syndrome, without reporting new clinical findings.