Search the literature by keyword, topic, or author. Filter to articles with full text available.
10021 results
Tung oil, obtained from the seeds of the tung tree (Vernicia fordii), holds significant economic value. Nevertheless, the low proportion of female flowers in tung trees limits tung oil yield. Studying the expression of genes …
Read PDF<h4>Purpose</h4>The American College of Medical Genetics and Genomics Medical Directors' Special Interest Group (SIG) began in 2021 as a forum for directors of medical genetics clinical groups to share questions, concerns, current practices, and solutions …
Read PDF<h4>Objective</h4>This study completed the karyotyping of a patient with a complex chromosomal insertion and identified the location of the breakpoint for implementing preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) to differentiate between normal and …
Read PDFBACKGROUND: Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities in …
Read PDF<h4>Objective</h4>To investigate the distribution of the apolipoprotein E ( ApoE ) and solute carrier organic anion transporter family member 1B1 ( SLCO1B1 ) polymorphisms in dyslipidemia patients and their impact on statin efficacy and safety.<h4>Methods</h4>A …
Read PDFBACKGROUND: Telomere length (TL) is a biomarker of biological aging and has been linked to various health outcomes; however, its relationship with periodontitis remains inconsistent. This meta-analysis aimed to evaluate the association between periodontitis and …
Read PDF<h4>Background</h4>It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from …
Read PDFWolbachia, a widespread endosymbiotic bacterium that infects a broad range of arthropods and nematodes, relies on vertical transmission from mother to offspring. This process often involves colonisation of the host germline, subsequent transfer to developing …
Read PDFWith rapid advancements in breeding technologies, phenomics, and artificial intelligence, crop breeding is progressively entering an era of greater precision and efficiency. In this context, three-dimensional (3D) phenotyping techniques-leveraging multidimensional spatial resolution capabilities-have overcome the …
Read PDFNeurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome associated with an increased risk of pheochromocytoma. Pheochromocytoma typically presents with hypertension and catecholamine excess; however, atypical clinical features may occur. A 58-year-old Turkish …
Read PDFAccurate detection of insertions and deletions (indels) is critical for applications in disease genomics, population genetics, and personalized healthcare. Despite advancements in sequencing technologies, indel detection remains challenging, particularly in difficult-to-map genomic regions. In this …
Read PDFUnderstanding changes in gene expression and cell-cell signaling among spatial regions in diseased tissues adds critical biological information to understanding mechanisms. Here, we present a protocol to investigate molecular transcriptional drivers within intact murine tissue …
Read PDF<h4>Introduction</h4>After a patient receives genetic test results that indicate an actionable health condition, cascade genetic screening (CGS) is the process of evaluating the patient's relatives for a potentially elevated genetic risk of disease. The United …
Read PDFREs play critical roles in modulating gene expression and shaping phenotypic diversity; however, their evolutionary dynamics in pigs remain incompletely understood. Based on genome alignments across 13 species, we characterized the hierarchical structure of REs …
Read PDFA systematic dissection of the functional impacts of non-coding variations across diverse tissues and cell types is essential for deciphering the molecular architecture underlying complex traits. Given the significance of chickens as both a key …
Read PDFPhytoplasmas are insect-transmitted plant pathogens that manipulate host development through secreted effector proteins. While they are notorious for causing agricultural losses, in the ornamental plant poinsettia (<i>Euphorbia pulcherrima</i>), phytoplasma infection is uniquely harnessed to induce …
Read PDF