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Chemical shift assignments of DRB2 domains, a dsRNA binding protein in A. thaliana RNAi pathway.
Biomol NMR Assign
January 2025
CSIR-Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, 500007, India.
In Arabidopsis thaliana, micro-RNA regulation is primarily controlled by DCL1, an RNase III enzyme, and its associated proteins. DCL1, together with DRB2, governs a specific group of miRNAs that induce the inhibition of target mRNA translation. DRB2 is a multi-domain protein containing two N-terminal dsRNA binding domains (dsRBD) separated by a linker, followed by an unstructured C-terminal tail.
View Article and Find Full Text PDFWBSCR16 is essential for mitochondrial 16S rRNA processing in mammals.
Nucleic Acids Res
January 2025
Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 573 Xujiahui Road, Huangpu District, Shanghai 200025, China.
Mitochondrial rRNAs play important roles in regulating mtDNA-encoded gene expression and energy metabolism subsequently. However, the proteins that regulate mitochondrial 16S rRNA processing remain poorly understood. Herein, we generated adipose-specific Wbscr16-/-mice and cells, both of which exhibited dramatic mitochondrial changes.
View Article and Find Full Text PDFArgonaute2 modulates megakaryocyte development and sex-specific control of platelet protein expression and reactivity.
Sci Rep
January 2025
Department of Medicine, Division of Hematology, Cardeza Foundation for Hematologic Research, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Platelets are enriched in miRNAs and harbor Ago2 as the principal RNA silencing Argonaute. However, roles in thrombopoiesis and platelet function remain poorly understood. We generated megakaryocyte/platelet-specific Ago2-deleted (Ago2 KO) mice and assessed proteomic and functional effects.
View Article and Find Full Text PDFIncreased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Association of LPCAT1-rs8352 genetic variant with susceptibility and severity of pediatric bronchial asthma: a case-control study.
BMC Pediatr
January 2025
Department of Pediatrics, Faculty of Medicine, Assiut University, Egypt, 71515, Assiut, Egypt.
Background: This study aimed to investigate the possible association of LPCAT1-rs8352 genetic variant (single nucleotide change C to G) with the onset and severity of pediatric asthma. Additionally, the study examined the influence of LPCAT1-rs8352 genotypes on asthma-related biomarkers including blood eosinophils count (BEC), eosinophil cationic protein (ECP), high-sensitivity C-reactive protein (hs-CRP), and immunoglobulin E (IgE) and on lung function [forced expiratory volume in one second (FEV1) and the forced vital capacity (FVC)].
Patients And Methods: The study included ninety-six participant grouped into two groups: G1 (46 asthmatics) and G2 (50 healthy controls).
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