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Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFEvolution of dirofilariasis diagnostic techniques from traditional morphological analysis to molecular-based techniques: a comprehensive review.
Front Parasitol
August 2024
Department of Zoology and Environmental Management, Faculty of Science, University of Kelaniya, Dalugama, Kelaniya, Sri Lanka.
Dirofilariasis, caused by the nematode spp., poses significant challenges in diagnosis due to its diverse clinical manifestations and complex life cycle. This comprehensive literature review focuses on the evolution of diagnostic methodologies, spanning from traditional morphological analyses to modern emerging techniques in the context of dirofilariasis diagnosis.
View Article and Find Full Text PDFManipulation of mitochondrial poly(A) polymerase family proteins in impacts mRNA termini processing.
Front Parasitol
January 2024
Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, United States.
RNA-specific nucleotidyltransferases (rNTrs) add nontemplated nucleotides to the 3 end of RNA. Two noncanonical rNTRs that are thought to be poly(A) polymerases (PAPs) have been identified in the mitochondria of trypanosomes - KPAP1 and KPAP2. KPAP1 is the primary polymerase that adds adenines (As) to trypanosome mitochondrial mRNA 3 tails, while KPAP2 is a non-essential putative polymerase whose role in the mitochondria is ambiguous.
View Article and Find Full Text PDF"Post-Kasai Portoenterostomy Cholangitis: What Have We Learnt So Far?".
J Clin Exp Hepatol
December 2024
Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India.
Post-Kasai portoenterostomy (KPE) cholangitis is one of the most common complications that has a negative impact on liver function and native liver survival. Early diagnosis and judicious empiric antimicrobial management are, therefore, important to prevent further liver damage and decompensation. However, there is no consensus regarding the standard definition of post-KPE cholangitis, and established guidelines on evaluation and management are also lacking.
View Article and Find Full Text PDFIntegrative genomics would strengthen AMR understanding through ONE health approach.
Heliyon
July 2024
Division of Immunology and Infectious Disease Biology, INtegrative GENomics of HOst-PathogEn (INGEN-HOPE) Laboratory, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Mall Road, Delhi, 110007, India.
Emergence of drug-induced antimicrobial resistance (AMR) forms a crippling health and economic crisis worldwide, causing high mortality from otherwise treatable diseases and infections. Next Generation Sequencing (NGS) has significantly augmented detection of culture independent microbes, potential AMR in pathogens and elucidation of mechanisms underlying it. Here, we review recent findings of AMR evolution in pathogens aided by integrated genomic investigation strategies inclusive of bacteria, virus, fungi and AMR alleles.
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