July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
7 citations
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March 2011 in “Hormone and Metabolic Research” This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
2 citations
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June 2020 in “Journal of Applied Pharmaceutical Sciences and Research” This study reported an association between the rs6259 polymorphism affecting SHBG levels and PCOS in most Indian women, suggesting a potential genetic link in this population.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
January 2017 in “Murdoch Research Repository (Murdoch University)” This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.
This study identified seven novel CYP17A1 inhibitor scaffolds as potential leads for treating polycystic ovary syndrome through an in silico approach, demonstrating favorable interactions, drug-like properties, and predicted bioactivities warranting further experimental validation.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
August 2023 in “International Journal of Molecular Sciences” This review highlights that liposomes offer a promising method for delivering CRISPR/Cas9 components for precise and efficient genetic modifications, with potential applications in correcting genetic diseases and enhancing immune cell function.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
10 citations
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October 2014 in “Journal of Ovarian Research” This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
5 citations
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January 2020 in “Bioscience Reports” This meta-analysis suggests that certain VEGF gene polymorphisms may be linked to polycystic ovary syndrome risk, potentially serving as early detection biomarkers.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” This study identified a cytochrome P450 enzyme, CYP-pa1 from Pseudonocardia autotrophica, as responsible for the specific hydroxylation of cyclosporin A at the 9th N-methyl leucine, suggesting potential for biotechnological applications.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.
November 2023 in “ACS Omega” This study reported that a novel cationic liposome formulation for delivering encapsulated Cas9 protein and sgRNA successfully decreased SRD5α2 mRNA expression by 29.7% in vitro, suggesting a potential alternative treatment option for conditions like prostate cancer and benign prostatic hyperplasia without current drug side effects.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
December 2015 in “Vascular Pharmacology” Prasugrel is better than clopidogrel at preventing heart damage and improving blood flow in small heart vessels during heart artery procedures.
2 citations
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July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
April 2026 in “Biomolecules” This review highlights recent advancements in molecular understanding and treatment approaches for PCOS, including innovative drug delivery systems and AI-driven precision medicine, but provides no new clinical results.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.