In this study, the deletion of Smad4 and PTEN genes in mice was associated with rapid and invasive squamous cell carcinoma formation in the forestomach, modeling human esophageal cancer progression.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
232 citations
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January 2016 in “BMC Bioinformatics” This study found that using curated biomedical databases as training examples for information extraction tasks in Genome-Wide Association Studies can outperform cost-insensitive methods, demonstrating their potential use without expert annotation.
10 citations
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September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
20 citations
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July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
16 citations
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January 2012 in “European Journal of Endocrinology” This study reports an increased frequency of the DI genotype of the ACE gene polymorphism among women with PCOS, notably in those with hyperandrogenism, and an association of the II genotype with insulin resistance.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
20 citations
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June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
13 citations
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March 2019 in “Pharmacology Research & Perspectives” This study analyzed CADR reports in Singapore, finding nonsteroidal anti-inflammatory drugs, antibiotics, and iohexol frequently associated with serious skin reactions like rash and angioedema, with trends varying by demographics.
52 citations
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October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
In this study, analyzing over 400 million tweets revealed a broader and milder spectrum of COVID-19 symptoms than clinical research, and illustrated symptom evolution and co-occurrence throughout the pandemic.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
2 citations
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January 2022 in “Journal of Oleo Science” This study found that oil from CG17 garden cress seeds had higher amounts of β-carotenoids, tocopherols, and vitamins compared to other genotypes, with varying physiochemical properties across all seeds.
48 citations
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May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
20 citations
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May 2007 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.
15 citations
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January 2019 in “Gynecological Endocrinology” This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.
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.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical 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.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
January 2025 in “Journal of the European Academy of Dermatology and Venereology” This study highlights that Trichophyton mentagrophytes genotype VII, primarily transmitted sexually among men who have sex with men, has established itself in Europe, necessitating awareness and surveillance to prevent its spread.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
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.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
42 citations
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January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
23 citations
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May 2009 in “International Journal of Dermatology” In this study, no association was found between the AR gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for predisposition.
21 citations
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December 2013 in “Archives of Dermatological Research” No link found between new male baldness genes and female hair loss.