Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S1474-4422(23)00289-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFAnatomy and transcriptomics of the common jingle shell (Bivalvia, Anomiidae) support a sensory function for bivalve tentacles.
Sci Rep
December 2024
Department of Zoology, University of São Paulo, São Paulo, SP, Brazil.
Animals have evolved numerous mechanisms to perceive and interact with the environment that can be translated into different sensory modalities. However, the genomic and phenotypic features that support sensory functions remain enigmatic for many invertebrates, such as bivalves, an ecologically and economically important taxonomic group. No repertoire of sensory genes has been characterized in bivalves, representing a significant knowledge gap in molluscan sensory biology.
View Article and Find Full Text PDFGenome-wide association mapping in safflower (Carthamus tinctorius L.) for genetic dissection of drought tolerance using DArTseq markers.
Sci Rep
December 2024
Department of Agronomy and Plant Breeding, Sanandaj Branch, Islamic Azad University, Sanandaj, Iran.
Understanding the genetic basis of drought tolerance in safflower (Carthamus tinctorius L.) is essential for developing resilient varieties. In this study, we performed a genome-wide association study (GWAS) using DArTseq markers to identify marker-trait associations (MTAs) linked to drought tolerance across 90 globally diverse safflower genotypes.
View Article and Find Full Text PDFTranscriptomic and genetic profiling in a spontaneous non-human primate model of hypertrophic cardiomyopathy and sudden cardiac death.
Sci Rep
December 2024
Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Dr, Raleigh, NC, 27607, USA.
Hypertrophic cardiomyopathy (HCM) afflicts humans, cats, pigs, and rhesus macaques. Disease sequelae include congestive heart failure, thromboembolism, and sudden cardiac death (SCD). Sarcomeric mutations explain some human and cat cases, however, the molecular basis in rhesus macaques remains unknown.
View Article and Find Full Text PDFEthnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians.
Sci Rep
December 2024
Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, 11451, Saudi Arabia.
Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024-576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!