Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10048-025-00802-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An attention-based mRNA transformer network for accurate prediction of melanoma response to immune checkpoint inhibitors.
Sci Rep
August 2025
The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350000, China.
Melanoma immunotherapy urgently requires approaches that can accurately predict drug responses to minimize unnecessary treatments. Deep learning models have emerged as powerful tools in this domain due to their robust predictive capabilities. Integrating functional characteristics with expression data from mRNA transcripts shows promise for enhancing prediction accuracy.
View Article and Find Full Text PDFAssociation of with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.
Genes (Basel)
July 2025
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University, 2-11 Suemori-dori, Chikusa-ku, Nagoya 464-8651, Japan.
Non-syndromic cleft lip with or without palate (NSCL/P) is a common, multifactorial congenital anomaly. As genetic associations can be population-specific, this study aimed to investigate single-nucleotide polymorphisms (SNPs) in the , , and genes for association with NSCL/P in a Japanese cohort. A case-control study was conducted with 310 Japanese patients with NSCL/P and 308 ethnically matched healthy controls from Aichi Gakuin Dental Hospital.
View Article and Find Full Text PDFContribution of , , , , and Genetic Variants to Hepatocellular Carcinoma Development in Mexican Patients.
Int J Mol Sci
August 2025
Department of Immunogenetics, Northeast Biomedical Research Centre, Mexican Social Security Institute, Monterrey 64320, NL, Mexico.
Hepatocellular carcinoma (HCC) is the most prevalent subtype of liver cancer with an increasing incidence worldwide. Single nucleotide polymorphisms (SNPs) may influence disease risk and serve as predictive markers. This study aimed to evaluate the association of (rs738409 and rs2294918), (rs780094), (rs641738), (rs2228603), and (rs58542926) SNPs with the risk of developing HCC in a Mexican population.
View Article and Find Full Text PDFRescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer.
Commun Med (Lond)
April 2025
Genethon, 91000, Evry, France.
Background: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in the LIPA gene, which results in lipid accumulation leading to multi-organ failure. If left untreated, the severe form of LAL-D results in premature death within the first year of life due to failure to thrive and hepatic insufficiency. Weekly systemic injections of recombinant LAL protein, referred as enzyme replacement therapy, is the only available supportive treatment.
View Article and Find Full Text PDFAssociation of maternal prenatal phthalate exposure and genetic polymorphisms of metabolic enzyme genes with spontaneous preterm birth: a nested case-control study in China.
BMC Pregnancy Childbirth
March 2025
National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Sec.3 No.17, RenMin South Road, Chengdu, 610041, Sichuan, China.
Background: The relationship between prenatal phthalate exposure and preterm birth from previous studies has been inconsistent. Meanwhile, few studies have explored the relationship between spontaneous preterm birth (SPTB) and genetic polymorphisms of metabolic enzyme genes or gene-phthalate interactions. The aim of this study is to evaluate the association of maternal phthalate exposure, genetic polymorphisms, and their interactions with SPTB.
View Article and Find Full Text PDF