Results 51 to 60 of about 305,611 (291)
netgwas: An R Package for Network-Based Genome-Wide Association Studies
, 2019 Graphical models are powerful tools for modeling and making statistical inferences regarding complex associations among variables in multivariate data.
Arends, Danny +2 more
core +1 more source
Multiple testing correction in linear mixed models. [PDF]
, 2016 BackgroundMultiple hypothesis testing is a major issue in genome-wide association studies (GWAS), which often analyze millions of markers. The permutation test is considered to be the gold standard in multiple testing correction as it accurately takes ...
Eskin, Eleazar +3 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash +4 more
wiley +1 more source
Chromosome Duplication (14q) and The Genotype Phenotype Correlation [PDF]
International Journal of Fertility and Sterility, 2014 The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features.
Ariane Sadr-Nabavi, Morteza Saeidi
doaj
A tractable genotype-phenotype map for the self-assembly of protein quaternary structure
, 2013 The mapping between biological genotypes and phenotypes is central to the study of biological evolution. Here we introduce a rich, intuitive, and biologically realistic genotype-phenotype (GP) map, that serves as a model of self-assembling biological ...
Ahnert, Sebastian E. +3 more
core +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment
, 2013 Imputation using external reference panels is a widely used approach for increasing power in GWAS and meta-analysis. Existing HMM-based imputation approaches require individual-level genotypes.
Bhatia, Gaurav +9 more
core +2 more sources
Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis [PDF]
, 2005 BACKGROUND AND AIMS: The MDR1 gene encodes P-glycoprotein 170, an efflux transporter that is highly expressed in intestinal epithelial cells. The MDR1 exonic single nucleotide polymorphisms (SNPs) C3435T and G2677T have been shown to correlate with ...
Arnott, Ian D +7 more
core +1 more source
Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin
Molecular Oncology, EarlyView.The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla +10 more
wiley +1 more source
Genotype–phenotype correlation in PRKN-associated Parkinson’s disease
npj Parkinson's DiseaseBi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for
Poornima Jayadev Menon +53 more
doaj +1 more source