218 papers
This study identifies KIF12 as a critical motor protein in human biliary epithelial cells whose dysfunction leads to pediatric liver disease by disrupting the microtubule-dependent localization of mitochondria, lysosomes, and primary cilia, a defect that can be rescued by restoring wildtype KIF12 expression.
This study utilizes multilocus microsatellite typing to reveal high genetic diversity among *Leishmania infantum* strains causing tegumentary leishmaniasis in northern Italy, identifying a distinct parasite population exclusive to skin infections that underscores the necessity of integrated One Health surveillance to understand the disease's epidemiology.
This study utilizes CRISPR-Cas9 to demonstrate that ABCG transporters (white, scarlet, and oily kinshiryu) play conserved, tissue-specific roles in regulating ommochrome and uric acid deposition for integument and eye pigmentation across diverse Lepidoptera, while also revealing gene-specific viability effects that make scarlet mutants a practical tool for future genetic research.
This study demonstrates that a hybrid approach combining One-Class Support Vector Machines with Fisher's Exact Test outperforms traditional statistical and standalone machine learning methods in detecting polygenic adaptation from simulated evolve-and-resequence time-series data, particularly during the late dynamic phase of selection.
This study demonstrates that intranasal administration of the synthetic peptide ACTH(4-7)PGP effectively delays neurological progression and extends lifespan in mouse models of Mucopolysaccharidosis III by reducing neuroinflammation, rescuing synaptic transmission and myelination, and improving cognitive and behavioral deficits without adverse effects.
By leveraging neuro-symbolic analysis of Telomere-to-Telomere pangenome data, this study identifies a 3.3 kb structural variation in the indica rice subspecies that drives the de novo evolution of a virus-resistant NLR gene, thereby resolving the missing heritability in rice viral immunity and offering a new marker for precision breeding.
This study reveals that in *C. elegans*, excess zinc triggers a regulatory cascade where the high-zinc sensor HIZR-1 activates the transcription factor HLH-30/TFEB to drive lysosome remodeling and biogenesis, thereby enabling the organism to detoxify and store surplus zinc.
This study reveals that a naive, abundance-coupled piRNA surveillance system broadly samples the germline transcriptome in diverse species to provide an initial, non-specific defense against invasive elements, which subsequently seeds more efficient, sequence-specific silencing pathways for long-term genome protection.
The study demonstrates that the conserved SIN-3 coregulator is essential for *C. elegans* to adapt to different bacterial diets by modulating vitamin B12-dependent metabolic pathways, specifically the methionine/S-adenosylmethionine cycle, to ensure survival during dietary shifts.
This study presents a non-invasive quantitative PCR method using skin swabs to accurately determine the sex of dwarf cuttlefish and other cephalopod species from three hours post-hatching by detecting Z chromosome dosage differences, a technique applicable across diverse species using low-coverage genomic data.
This study demonstrates that genomic selection, implemented via single-step GBLUP models with scaled relationship matrices, significantly outperforms conventional breeding in loblolly pine by achieving high prediction accuracies and approximately 50% greater annual genetic gain, validating its integration into operational conifer breeding programs.
This study presents evidence from a large human pedigree that a specific family exhibits a 2:1 male-to-female offspring ratio, suggesting the existence of a rare Y-chromosome-driven segregation distorter in humans.
Using whole-genome sequencing and metabolomics data from the HCHS/SOL study, this research demonstrates that while rare variants show replicated associations with metabolite levels, expanding the genomic search region for common variants, rather than including rare variants, is the primary factor explaining previously unexplained admixture mapping signals.
This paper presents a cost-effective ultra-low pass sequencing pipeline for maize that enables diverse genetic applications, including genotyping, locus mapping, and pedigree analysis of unknown origins, at a low cost of $21 per sample.
This study integrates bulk and single-cell RNA sequencing to identify a novel proliferation-centric gene module in idiopathic pulmonary fibrosis that shares oncogenic pathways with cancer, suggesting potential new diagnostic biomarkers and therapeutic targets involving cell cycle inhibitors.
This cohort profile describes the curation and initial analyses of molecular genetic and epigenetic data from the TwinSNPs and TECS satellite projects within the German TwinLife study, highlighting the high correlation of epigenetic clocks with age, the predictive value of polygenic scores for sample retention, and the potential of combining (epi)genomic data with within-family designs to advance research on social inequalities.
The authors present TRU-PE, a versatile toolkit utilizing a split-vector architecture and fluorescence-guided enrichment to overcome delivery and efficiency barriers in prime editing, thereby enabling robust single- and multi-locus genome engineering that accelerates functional genomics and therapeutic development.
This study demonstrates that the large *Manihot glaziovii* introgression on cassava chromosome 1 does not directly confer the previously attributed dry matter benefits but instead exhibits segregation distortion and deleterious effects on vigor, suggesting that recombination and purging of this region are necessary for cassava improvement.
This study reveals that diverse sour cherry accessions exhibit significant variation in subgenome dosage through homoeologous exchanges and replacements, alongside dynamic expression biases favoring the *P. fruticosa*-derived subgenomes over the *P. avium*-derived subgenome, which collectively influence key breeding traits like fruit softening.
This study integrates extensive phenotyping with genome-wide association analysis in Colombian Andean blueberry (Vaccinium meridionale) to identify 24 QTLs and specific candidate genes, such as glycosyltransferases and pectin methylesterases, that govern the polygenic architecture of dietary fiber content and composition, thereby providing molecular targets for breeding improved nutritional and processing traits.