Search the literature by keyword, topic, or author. Filter to articles with full text available.
10021 results
BACKGROUND: Fabry disease is a rare and non-specific disease that is difficult and expensive to diagnose. This study aimed to investigate the clinical phenotypes and genetic characteristics of patients with Fabry disease characterised by the …
Read PDF<i>ROS1</i> rearrangements are driver events in a subset of nonsmall cell lung carcinomas and may qualify patients for <i>ROS1</i>-directed treatment. ROS1 immunohistochemistry (IHC) is often used for screening of lung carcinomas for <i>ROS1</i> gene rearrangement …
Read PDF<h4>Purpose</h4>Hormone receptor-positive (HR+), HER2-negative (HER2-) metastatic breast cancer (mBC) is biologically distinct from early-stage disease, with a higher prevalence of genomically defined nonluminal subtypes, particularly the HER2-enriched (HER2-E) and basal-like subtypes. These tumors are highly …
Read PDFSalix suchowensis is an important species of Salix, known for its rapid growth property and wide application in environmental construction, ecological restoration, wicker production, and biomass energy production. Due to its significance as a sustainable …
Read PDFBackground Medicine is a field that is continually evolving, and sociopolitical events, medical advances, and challenges have contributed to the development of medicine over time and will continue to impact the future. There is current …
Read PDFNo abstract available.
Read PDFUnderstanding how genetic variants influence disease risk through molecular mechanisms remains a central challenge in complex disease genetics. Nonsyndromic orofacial clefts (OFCs) exemplify this challenge, with most risk loci residing in non-coding regions. We hypothesized …
Read PDFThe genus Microbacterium encompasses a diverse group of Actinobacteria with broad ecological distribution and functional versatility. Here, we report the complete genome sequence of Microbacterium sp. FBCC-B4120, a novel strain isolated from a freshwater ecosystem …
Read PDFLeukocytes at the maternal-fetal interface have critical functions during pregnancy in the prevention of maternal reactivity towards fetal alloantigens, suppression of excess inflammation and promotion of placental angiogenesis. Failed maternal immune adaptations to pregnancy can …
Read PDF<h4>Objectives</h4>Genome Canada has committed significant resources to ensure that racialised groups are included in its initiatives; however, specific equity considerations related to engaging these communities in human genomic research continue to require deeper attention and …
Read PDFCompletion of the Saccharomyces cerevisiae genome sequence three decades ago marked a defining moment in eukaryotic genomics. Beyond a technical milestone, it established a shared reference that transformed how yeast biology is studied, interpreted, and …
Read PDF<h4>Background</h4>Relationships are foundational to successful implementation of innovations in healthcare. In genomic medicine, multidisciplinary teams with good communication are most effective to provide safe genomic care; however, working together could be challenging due to the …
Read PDF<h4>Objectives</h4>Ischemic stroke represents a major global cause of disability and death. Timely recanalization of occluded vessels to salvage the ischemic penumbra is the cornerstone of acute ischemic stroke (AIS) treatment. Nevertheless, the molecular mechanisms driving …
Read PDFOver the past three decades, advances in high-throughput technologies have played a major role in the transformation of biomedical science, which has enabled unprecedented exploration of genomes, transcriptomes, and proteomes [...].
Read PDF<h4>Background</h4>Postmenopausal osteoporosis (PMO) develops as a result of pathological cross-tissue interactions. However, current experimental paradigms are constrained by their single-tissue focus, hindering efforts to discover systemwide regulatory genes.<h4>Objective</h4>We aimed to discover conserved genetic regulators of …
Read PDFIpomoea pes-caprae (IPC) is a perennial halophytic vine with remarkable salt and drought tolerance, playing a critical ecological and medicinal role in tropical and subtropical coastal ecosystems. Despite the availability of a high-quality chromosome-level reference …
Read PDFBACKGROUND: Genomic imprinting at the 11p15.5 region is critically involved in fetal growth regulation. Disturbances in this region are primarily associated with two opposing growth disorders: Silver-Russell syndrome (SRS, growth restriction) and Beckwith-Wiedemann syndrome (BWS, …
Read PDFBACKGROUND: The formation of enamel occurs across multiple developmental stages and is highly sensitive to disruptions in cellular signaling. Perinatal complications, preterm birth, and exposure to environmental chemicals are systemic factors known to contribute to …
Read PDFThe trophectoderm produced from totipotent blastomeres initiates trophoblast development, while placental deficiencies can cause pregnancy disorders. Yet, a culture system that fully recapitulates the entire placenta development is still lacking, greatly limiting related studies. Here, …
Read PDF