Escape from X inactivation drives sex differences in gene expression. [PDF]
Zhu C, Xu L, Harpak A.
europepmc +1 more source
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov +14 more
wiley +1 more source
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis +25 more
wiley +1 more source
Six IL-8 gene polymorphisms and the entire cancer susceptibility according to a comprehensive analysis especially in prostate cancer. [PDF]
Zhang X, Sun J, Ding X.
europepmc +1 more source
The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin +7 more
wiley +1 more source
<i>TNF-α</i> rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates. [PDF]
Nguyen HM +6 more
europepmc +1 more source
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
Genome-wide exploration of bacterial leaf blight resistance and fine mapping of major resistance gene (Bb13) in upland cotton (Gossypium hirsutum L.). [PDF]
Gandhadmath SS +6 more
europepmc +1 more source
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source
Genomic analysis of the genetic background underlying Streptococcus pneumoniae beta-lactam nonsusceptibility in central Vietnam: increased beta-lactam nonsusceptibility and dynamics of the pbp2x gene. [PDF]
Fujii H +16 more
europepmc +1 more source

