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A novel polyadenylation signal variant NM_000517.6 (<i>HBA2</i>): c.*92_*97delinsTA causing α-thalassemia in two Chinese families
<h4>Introduction</h4>Thalassemia, the most prevalent recessive genetic disorder in China, predominantly affects the southern coastal regions. The mutational spectrum of α-thalassemia (α-thal) continues to expand with advances in detection technologies.<h4>Methods</h4>Fetal DNA was extracted from amniotic fluid …
Read PDFEnhancing prostate cancer diagnosis: a machine learning-based biomarker approach
BACKGROUND: The lack of reliable screening biomarkers for prostate cancer (PC) diagnosis makes tissue biopsy the gold-standard strategy. However, its frequent inconclusive results often lead to repeated procedures, increasing patient burden and healthcare costs. In …
Read PDFTreating alcohol use disorder: recent advances in pharmacology and genomics
No abstract available.
Read PDFVariants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder
Primary ciliary dyskinesia (PCD) is a rare multi-system cilia-related disorder, and approximately 50% of individuals with PCD exhibit left-right asymmetry disorder. The dynein axonemal heavy chain 11 gene (DNAH11) pathogenic variants are responsible for primary …
Read PDFMendelian randomization and colocalization reveal potential causal effects of average daily gain on carcass composition and reproductive traits in pigs
<h4>Background</h4>Selective breeding has substantially improved productive and reproductive traits in pigs. Yet, these traits are biologically interconnected, and selection for one often affects others in unintended ways. While genome-wide association studies (GWAS) have uncovered many …
Read PDFMulti-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases
Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). There are 930 distinct missense variants in ABCC6 reported, 87% of …
Read PDFDental genomics in Africa: colonial legacies and research gaps
Oral health disparities are closely linked to broader health inequalities, particularly in global health contexts where disproportionate emphasis is placed on diseases other than oral health. In the field of dental genetics, recent investigations have …
Read PDFDevelopment and application of genome-derived SSR markers for genetic diversity analysis, molecular fingerprinting, and core collection construction in bougainvillea (Bougainvillea spp.)
Bougainvillea (Bougainvillea spp.) is an important ornamental shrub, yet its cultivar identification and genetic background remain poorly characterized. To address this, we developed 18 polymorphic SSR markers based on the B. glabra ‘Formosa’ genome and …
Read PDFCombining polygenic risk scores to understand genetic liability to physical-mental health multimorbidity in UK Biobank
<h4>Background</h4>Multimorbidity, also known as multiple long-term conditions, is a major public health concern. Internalising and CardioMetabolic MultiMorbidity (ICM-MM) is a common form of mental-physical health multimorbidity, yet its genetic predisposition is largely unknown. We examined …
Read PDFSpecial Issue “Molecular Research in Bamboo, Tree, Grass, and Other Forest Products”
No abstract available.
Read PDFCombined multi-omics and multi-spectral profiling of plasma extracellular vesicles reveals liquid biopsy biomarkers for glioma diagnosis
Plasma small extracellular vesicles (sEVs) are a promising liquid biopsy tool. This study aims to delineate and validate a multimodal plasma sEV biomarker signature for glioma. We use size exclusion chromatography to separate sEVs from …
Read PDFHigh Burden of High-Risk Human Papillomavirus Infections Among Women Living With HIV in Meru, Kenya
Background Cervical cancer remains a major cause of death among women in Kenya and is primarily driven by persistent infection with high-risk human papillomavirus (HR-HPV). HIV infection increases the burden of the disease, as it …
Read PDFAn entropy-based framework for genomic variability analysis: A South American case study of human papillomavirus
The genetic diversity of Human Papillomavirus (HPV) poses challenges for molecular detection and genotyping, particularly in regions with distinctive circulating variants such as South America. This study aimed to quantitatively characterize HPV genomic variability using …
Read PDFPrecise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification
This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) of small fibroblast cell groups, which mimics the limited cell quantities typical of trophectoderm embryo biopsies. PTA’s consistent amplification reduces allelic dropout (ADO) …
Read PDFEffects of Different SNP Calling and Sequence Mapping Choices on the Inference of Genetic Architecture Underlying Migration Tendency
Genome-wide association studies with identification of biologically relevant genes rely on correct mapping of sequence variation. Here, we re-analysed RADseq data from two migration types of brown trout (<i>Salmo trutta</i>) from Koutajoki and Oulujoki watersheds …
Read PDFVariants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity
Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and …
Read PDFGenetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian
<h4>Research objective</h4>Young-onset Parkinson's disease (YOPD), defined by symptom onset at or before 50 years of age, has a strong genetic component. The mutation spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a …
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