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Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.
Genes Chromosomes Cancer
January 2025
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK.
View Article and Find Full Text PDFA cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia.
Sci Rep
January 2025
Department of Urology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, 730030, People's Republic of China.
Benign prostatic hyperplasia (BPH) is a prevalent urinary system disorder. Despite evidence of a significant genetic component from previous studies, the specific pathogenic genes and biological mechanisms are still largely unknown. The study utilized the FinnGen R10 dataset, encompassing 177,901 individuals (36,601 cases and 141,300 controls), and the GTEx v8 EQTLs files to conduct single-tissue and cross-tissue transcriptome-wide association studies (TWAS).
View Article and Find Full Text PDFConstruction of a High-Density Genetic Linkage Map and QTL Mapping for Stem Rot Resistance in Passion Fruit ( Sims).
Genes (Basel)
January 2025
Guangxi Key Laboratory of Rice Genetics and Breeding, Rice Research Institute, Guangxi Academy of Agricultural Sciences, Nanning 530007, China.
Background: The passion fruit ( Sims) is a diploid plant (2n = 2x = 18) and is a perennial scrambling vine in Southern China. However, the occurrence and spread of stem rot in passion fruit severely impact its yield and quality.
Methods: In this study, we re-sequenced a BCF population consisting of 158 individuals using whole-genome resequencing.
Identifying Genetic Predisposition to Dozer Lamb Syndrome: A Semi-Lethal Muscle Weakness Disease in Sheep.
Genes (Basel)
January 2025
Department of Animal, Veterinary and Food Science, University of Idaho, Moscow, ID 83844, USA.
Background: Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15-20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed dozer lamb syndrome.
View Article and Find Full Text PDFDevelopment of a Polygenic Risk Score for Metabolic Dysfunction-Associated Steatotic Liver Disease Prediction in UK Biobank.
Genes (Basel)
December 2024
Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is the leading cause of liver-related morbidity and mortality. Although the invasive liver biopsy remains the golden standard for MASLD diagnosis, Magnetic Resonance Imaging-derived Proton Density Fat Fraction (MRI-PDFF) is an accurate, non-invasive method for the assessment of treatment response. This study aimed at developing a Polygenic Risk Score (PRS) to improve MRI-PDFF prediction using UK Biobank data to assess an individual's genetic liability to MASLD.
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