Integrating summarized data from multiple genetic variants in Mendelian randomization: bias and coverage properties of inverse-variance weighted methods [PDF]
Mendelian randomization is the use of genetic variants as instrumental variables to assess whether a risk factor is a cause of a disease outcome. Increasingly, Mendelian randomization investigations are conducted on the basis of summarized data, rather than individual-level data.
arxiv
GENETIC ANALYSIS OF ASPARTATE AMINOTRANSFERASE ISOZYMES FROM HYBRIDS BETWEEN DROSOPHILA MELANOGASTER AND DROSOPHILA SIMULANS AND MUTAGEN-INDUCED ISOZYME VARIANTS [PDF]
E. H. Grell
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Crosstalk between gut microbiota and tumor: tumors could cause gut dysbiosis and metabolic imbalance
In this research, we analyzed the relationship between gut microbiota and tumor. We discovered that both subcutaneous and metastatic tumors would alter the composition and metabolic function of gut microbiota. Meanwhile, fecal microbiota transplantation also indicated the anti‐tumor role of the gut microbiota, revealing the crosstalk between tumor and ...
Siyuan Zhang+8 more
wiley +1 more source
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa
Introduction Retinitis pigmentosa (RP) is a type of inherited retinal degeneration (IRD) that typically leads to vision loss in individuals of working age. Currently, over 100 genes and loci, as well as over 1000 individual variants, have been identified
He‐nan Sun+14 more
doaj +1 more source
Clinical Interpretation and Management of Genetic Variants
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances in the short-read sequencing technologies, despite some shortcomings, have enabled identification of the vast majority of the genetic variants in each genome.
openaire +4 more sources
This study simultaneously investigated circulating tumor cells (CTCs) and exosomes from small‐cell lung cancer (SCLC) patients. The elevated expression of JUNB and CXCR4 in CTCs was a poor prognostic factor for SCLC patients, whereas exosomal overexpression of these biomarkers revealed a high discrimination ability of patients from healthy individuals,
Dimitrios Papakonstantinou+13 more
wiley +1 more source
Background Colorectal cancer (CRC) ranks third in cancer incidence globally and is the second leading cause of cancer-related mortality. The nucleoside diphosphate kinase 1 (NME1) and netrin 1 receptor (DCC) genes have been associated with resistance ...
Rosa María Márquez-González+10 more
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Glucose Phosphate Isomerase Deficiency with Congenital Nonspherocytic Hemolytic Anemia: A New Variant (Type Nordhorn) I. Clinical and Genetic Studies [PDF]
W. Schröter+6 more
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This study explores how sepsis affects GC progression by creating an immunosuppressive environment. Our findings reveal that sepsis promotes immune dysregulation, enhancing tumor growth and metastasis. Targeting the PD‐1/PD‐L1 pathway with monoclonal antibodies shows potential for restoring immune function and improving outcomes in cancer patients ...
Yiding Wang+10 more
wiley +1 more source
Improvement of variant reclassification in genetic neurodevelopmental conditions
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants ...
Michelle Kowanda+8 more
doaj