Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.05.003
Abstract: SUMMARY Cells have evolved quality control pathways to prevent the accumulation of improperly localized proteins, which are often toxic. One of these pathways, regulation of aberrant protein production (RAPP), recognizes aberrant secretory proteins during translation… read more here.
Keywords: progranulin disrupt; signal sequence; grn; sequence mutations ... See more keywords
Dynamics and predicted drug response of a gene network linking dedifferentiation with beta-catenin dysfunction in hepatocellular carcinoma.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2019.03.024
Abstract: BACKGROUND & AIMS Alterations of individual genes variably affect the development of hepatocellular carcinoma (HCC). Thus, we aimed to characterize the function of tumor-promoting genes in the context of gene regulatory networks (GRNs). METHODS Using… read more here.
Keywords: hepatocellular carcinoma; hcc; gene; network ... See more keywords
Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD
Sign Up to like & getrecommendations! Published in 2025 at "Communications Biology"
DOI: 10.1038/s42003-025-08368-2
Abstract: Genetic mutations in the progranulin gene, GRN, cause frontotemporal dementia and a lysosomal storage disorder. Using single-nuclei RNA sequencing of the post-mortem brain tissue from adult heterozygous pathogenic granulin variant (GRN+/−) carriers we find dysregulation… read more here.
Keywords: mertk axl; phagocytic receptors; ftd; grn ... See more keywords
Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease.
Sign Up to like & getrecommendations! Published in 2024 at "Human molecular genetics"
DOI: 10.1093/hmg/ddae113
Abstract: Gaucher disease (GD) is caused by biallelic GBA1/Gba1 mutations that encode defective glucocerebrosidase (GCase). Progranulin (PGRN, encoded by GRN/Grn) is a modifier of GCase, but the interplay between PGRN and GCase, specifically GBA1/Gba1 mutations, contributing… read more here.
Keywords: disease; pgrn; gcase; grn ... See more keywords
GRN+: a simplified generative reinforcement network for tissue layer analysis in 3D ultrasound images for chronic low-back pain
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Medical Imaging"
DOI: 10.1117/1.jmi.12.4.044001
Abstract: Abstract. Purpose 3D ultrasound delivers high-resolution, real-time images of soft tissues, which are essential for pain research. However, manually distinguishing various tissues for quantitative analysis is labor-intensive. We aimed to automate multilayer segmentation in 3D… read more here.
Keywords: generative reinforcement; segmentation; analysis; grn ... See more keywords
Granulin in renal tubular epithelia is associated with interstitial inflammation and activates the TLR9-IFN-α pathway in lupus nephritis
Sign Up to like & getrecommendations! Published in 2024 at "Lupus"
DOI: 10.1177/09612033241232575
Abstract: Objective This study aimed to investigate the possible role of granulin (GRN) in activating the TLR9-IFN-α pathway in renal tubular epithelial cells (RTECs) and explore clues that RTECs regulate the micro-environment of inflammatory response in… read more here.
Keywords: grn; rtecs; ifn pathway; study ... See more keywords
Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0872-6
Abstract: Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation carriers. Progranulin haploinsufficiency… read more here.
Keywords: frontotemporal dementia; glucocerebrosidase activity; grn; glucocerebrosidase ... See more keywords
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000200860
Abstract: Background and Objectives Familial frontotemporal lobar degeneration (f-FTLD) is a phenotypically heterogeneous spectrum of neurodegenerative disorders most often caused by variants within chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), or granulin… read more here.
Keywords: c9orf72 mapt; frontotemporal lobar; grn; lobar degeneration ... See more keywords
A systems biology approach uncovers the core gene regulatory network governing iridophore fate choice from the neural crest
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007402
Abstract: Multipotent neural crest (NC) progenitors generate an astonishing array of derivatives, including neuronal, skeletal components and pigment cells (chromatophores), but the molecular mechanisms allowing balanced selection of each fate remain unknown. In zebrafish, melanocytes, iridophores… read more here.
Keywords: iridophore; grn; fate; biology ... See more keywords
Gene Regulatory Network Construction Based on a Particle Swarm Optimization of a Long Short-term Memory Network
Sign Up to like & getrecommendations! Published in 2020 at "Current Bioinformatics"
DOI: 10.2174/1574893614666191023115224
Abstract: The Gene Regulatory Network (GRN) is a model for studying the function and behavior of genes by treating the genome as a whole, which can reveal the gene expression mechanism. However, due to the dynamics,… read more here.
Keywords: regulatory network; network; grn; gene regulatory ... See more keywords
Evolution and Developmental System Drift in the Endoderm Gene Regulatory Network of Caenorhabditis and Other Nematodes
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2020.00170
Abstract: Developmental gene regulatory networks (GRNs) underpin metazoan embryogenesis and have undergone substantial modification to generate the tremendous variety of animal forms present on Earth today. The nematode Caenorhabditis elegans has been a central model for… read more here.
Keywords: system drift; grn; gene regulatory; developmental system ... See more keywords