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Recognition of transcript features by nonsense-mediated decay. During spli...
Published: 28 April 2025
Figure 1
Recognition of transcript features by nonsense-mediated decay. During splicing in the nucleus, exon junction complexes (EJCs) consisting of eukaryotic translation initiation factor 4A3 (eIF4A3), MAGOH, Y14 (also called RBM8A), and the NMD factors UPF2 and UPF3b are deposited onto the RNA transcript
Journal Article
Recent developments in population biobanks and the genetic architecture of complex disease Get access
Human Molecular Genetics, ddaf036, https://doi.org/10.1093/hmg/ddaf036
Published: 28 April 2025
Journal Article
The dynamic interactions between virus infections and nonsense-mediated decay
Human Molecular Genetics, ddae151, https://doi.org/10.1093/hmg/ddae151
Published: 28 April 2025
Journal Article
STING: a multifaced player in cellular homeostasis Get access
Human Molecular Genetics, ddae175, https://doi.org/10.1093/hmg/ddae175
Published: 28 April 2025
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The nonsense-mediated decay RNA degradation process. (1) Following binding...
Published: 28 April 2025
Figure 2
The nonsense-mediated decay RNA degradation process. (1) Following binding of activated UPF1, the SMG1-8-9 complex is recruited to RNA transcripts. (2) SMG1 is subsequently released from SMG8-9, activating SMG1’s kinase activity and enabling phosphorylation of UPF1 at residues T28 and S1096, provid
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Omics data in combination with appropriate statistical methods can be used ... Get access
Published: 28 April 2025
Figure 1
Omics data in combination with appropriate statistical methods can be used to combine data from multiple biobanks and identify candidate genes, tissues, cell-types, and pathways associated with a trait of interest.
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The cGAS-STING signaling pathway. cGAS senses cytosolic self-DNA or pathoge... Get access
Published: 28 April 2025
Figure 1
The cGAS-STING signaling pathway. cGAS senses cytosolic self-DNA or pathogenic DNA and synthesizes cGAMP, which binds to STING. Apo-STING is autoinhibited through several mechanisms such as sequestration of the C-terminal tail. Once bound to cGAMP, STING oligomerizes and translocates to the ERGIC an
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Monogenic diseases associated with the cGAS-STING pathway. Loss-of-function... Get access
Published: 28 April 2025
Figure 2
Monogenic diseases associated with the cGAS-STING pathway. Loss-of-function variants (TREX1, RNASEH2, COPA, ARF1, NPC1, HEXB, GLA) or gain-of function variants (STING) are associated with cGAS-STING signaling hyperactivity.
Journal Article
Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling Get access
Human Molecular Genetics, ddaf060, https://doi.org/10.1093/hmg/ddaf060
Published: 27 April 2025
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Leishmania sensing in the skin. Skin resident cells that include k...
Published: 27 April 2025
Figure 1
Leishmania sensing in the skin. Skin resident cells that include keratinocytes, Langerhans cells, and γδ T cells are the first line of defense following infection with Leishmania spp. (A) Keratinocytes can harbor parasite and secrete cytokines—To both shape the immune response and promote healing
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Roles of mast cells and eosinophils in disease control during Leishmani...
Published: 27 April 2025
Figure 2
Roles of mast cells and eosinophils in disease control during Leishmania infection. (A) Mast cells present in the epidermis have been shown to mediate both susceptibility and resistance, contingent on genetic background. (B) Eosinophils can promote susceptibility to disease via continued secretion
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Neutrophils and macrophages in leishmaniases. Both neutrophils and macropha...
Published: 27 April 2025
Figure 3
Neutrophils and macrophages in leishmaniases. Both neutrophils and macrophages play key roles in establishment and resolution of leishmaniases. Neutrophils: Neutrophils phagocytose Leishmania spp . and temporarily become the primary cellular reservoir for Leishmania spp. soon after, macrophages p
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B cells and antibodies in leishmaniasis. B cells play critical roles during...
Published: 27 April 2025
Figure 7
B cells and antibodies in leishmaniasis. B cells play critical roles during leishmania infections, however the mechanistic details of how this occurs are still being elucidated. B1 cells have been shown to play both protective and pathogenic roles in CL, and pathogenic roles in VL. Low affinity anti
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Pathway analysis reveals a transcriptome signature indicating heart failure... Get access
Published: 27 April 2025
Figure 2
Pathway analysis reveals a transcriptome signature indicating heart failure, dysregulation of calcium signaling, and activation of hypoxia-dependent pathways in P5 SMA mouse hearts. (a) Differential expression of selected genes from the 5208 differentially expressed genes suggest dysregulation of he
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Specific neutrophil subsets contribute to COVID-19 severity and immune dysr... Get access
Published: 27 April 2025
Figure 3
Specific neutrophil subsets contribute to COVID-19 severity and immune dysregulation. In severe COVID-19 patients, αMβ2 and αLβ2 integrins and CD66b are upregulated, while α4β1 is downregulated. CD16 dim neutrophils are associated with immature and dysfunctional immune responses, contributing to hy
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Neutrophil heterogeneity contributes to clinical outcomes in IS. In patient... Get access
Published: 27 April 2025
Figure 4
Neutrophil heterogeneity contributes to clinical outcomes in IS. In patients with IS, αMβ2 + /CXCR4 + /L-seletin Low proinflammatory N1 neutrophils contribute to tissue damage by producing ROS and NETs. In contrast, YM1 + /CD206 + anti-inflammatory N2 neutrophils promote inflammation resolution an
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Tumor banks, the emerging platforms for multi-OMICS-based precision oncolog... Get access
Published: 27 April 2025
Figure 1
Tumor banks, the emerging platforms for multi-OMICS-based precision oncology the journey of a given cancer patient is highlighted illustrating the contribution of tumor banking in the collection of different biological specimens such as solid tumours and body fluids (blood, urine, saliva etc) both a
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Title: The Symbiosis of biobanking and multi-OMICS in personalized cancer c... Get access
Published: 27 April 2025
Figure 2
Title: The Symbiosis of biobanking and multi-OMICS in personalized cancer care figure description: This figure illustrates the essential synergy between biobanking and the multi-OMICS approach in the realm of personalized cancer care. At its core is a representation of a biobank, symbolizing the col
