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Incidence and Prognosis of Surgical Heart Block in Patients with L-transposition of the Great Arteries.
Pediatr Cardiol
January 2025
Division of Cardiology, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
L-transposition of the great arteries (L-TGA) represents a spectrum of congenital heart defects (CHD) associated with atrioventricular block (AVB). However, the incidence and prognosis of postoperative AVB among patients with variants of L-TGA is uncertain. Assess the incidence and risk factors for postoperative AVB requiring permanent pacemaker (PPM) implantation for pediatric patients with L-TGA undergoing cardiac surgery.
View Article and Find Full Text PDFThe human () gene encodes a plasma membrane protein SLC39A8 (ZIP8) that mediates the specific uptake of the metals Cd, Mn, Zn, Fe, Co, and Se Pathogenic variants within are associated with congenital disorder of glycosylation type 2 (CDG type II) or Leigh-like syndrome. However, numerous mutations of uncertain significance are also linked to different conditions or benign traits. Our study characterized 21 variants and measured their impact on protein localization and intracellular levels of Cd, Zn, and Mn We identified four variants that disrupt protein expression, five variants with high retention in the endoplasmic reticulum, and 12 variants with localization to the plasma membrane.
View Article and Find Full Text PDFEvaluating vitamin C-related gene-environment and metabolite-environment interaction effects on intraocular pressure in the Canadian Longitudinal Study on Aging.
BMC Genom Data
January 2025
School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 101E, Ottawa, Ontario, K1G 5Z3, Canada.
High intraocular pressure (IOP) is an important risk factor for glaucoma, which is influenced by genetic and environmental factors. However, the etiology of high IOP remains uncertain. Metabolites are compounds involved in metabolism which provide a link between the internal (genetic) and external environments.
View Article and Find Full Text PDFResolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFEmerging insights into the genetics and evolution of human same-sex sexual behavior.
Trends Genet
January 2025
Centre for Psychology and Evolution, School of Psychology, University of Queensland, Queensland, Australia.
Thanks to twin studies, it has been known for decades that human same-sex sexual behavior (SSB) has a substantial heritable component. However, only recently have large genome-wide association studies (GWAS) begun to illuminate the complex genetics involved. These studies have established that SSB is influenced by many common genetic variants, each with tiny but cumulative effects.
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