Results 101 to 110 of about 73,771 (300)

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements [PDF]

open access: bronze, 2016
Daniela Tiaki Uehara   +15 more
openalex   +1 more source

Pathway‐Informed Machine Learning Identifies Genetic Predictors of High‐Dose Methotrexate‐Induced Mucositis in Pediatric Acute Lymphoblastic Leukemia

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
High‐dose methotrexate for pediatric cancer treatment is frequently associated with mucositis, which can lead to delayed or discontinued treatment and impact survival. While individual genetic variants have been implicated, the cumulative impact of genetic variation within relevant biological pathways remains unexplored.
Xiao Yu Cindy Zhang   +9 more
wiley   +1 more source

A reference haplotype panel for genome-wide imputation of short tandem repeats

open access: yesNature Communications, 2018
Short-tandem repeats (STR), similar to single nucleotide polymorphisms (SNP), contribute to complex traits, but their ascertainment by next-generation sequencing is costly. Here, Saini et al.
Shubham Saini   +4 more
doaj   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk   +4 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

open access: yesEpilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz   +2 more
wiley   +1 more source

Marine n‐3 Polyunsaturated Fatty Acids Mitigate Obesity Traits Through PRDM16‐Driven Gene–Nutrient Interaction and Spatiotemporal Scale Browning Process

open access: yesFood Frontiers, EarlyView.
This large cohort study of 45,664 participants from the UK Biobank provides strong epidemiological evidence that fish oil use was associated with 12% and 7% lower risks of obesity and high body fat percentage, respectively. Mechanistically, marine n‐3 polyunsaturated fatty acids mitigate obesity traits through PRDM16‐driven gene–nutrient interactions ...
Xiaohui Liu   +12 more
wiley   +1 more source

SNP-specific array-based allele-specific expression analysis [PDF]

open access: hybrid, 2008
Hans T. Björnsson   +8 more
openalex   +1 more source

Linkage disequilibrium score regression identifies genetic correlations between hepatocellular carcinoma and clinically relevant traits

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Hepatocellular carcinoma arises from a combination of environmental and genetic factors, with the latter playing a potentially more significant role in nonviral hepatocellular carcinoma. Here, the authors characterized the genetic correlations and heritability between nonviral hepatocellular carcinoma and 901 epidemiologic, behavioral, and ...
Younghun Han   +37 more
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

open access: yesInternational Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin   +9 more
wiley   +1 more source

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