| scholarly article | Q13442814 |
| P2093 | author name string | Kenji Sakai | |
| Jun-Ichi Satoh | |||
| Yoshihiro Kino | |||
| Motoaki Yanaizu | |||
| Youhei Tosaki | |||
| P2860 | cites work | TREM2 Variants in Alzheimer's Disease | Q22250873 |
| Variant of TREM2 Associated with the Risk of Alzheimer's Disease | Q22250874 | ||
| MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 | Q24311381 | ||
| Genomic sequence, splicing, and gene annotation | Q24538898 | ||
| Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene | Q47100690 | ||
| Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. | Q48953001 | ||
| Mutations in TREM2 lead to pure early-onset dementia without bone cysts. | Q52587424 | ||
| Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs | Q24569504 | ||
| Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype | Q24611595 | ||
| Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy | Q24631244 | ||
| DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features | Q24672682 | ||
| Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement | Q28283330 | ||
| Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping | Q28291830 | ||
| The nonsense-mediated decay RNA surveillance pathway | Q28292588 | ||
| Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence | Q28302547 | ||
| Recombinant adeno-associated viral (rAAV) vectors mediate efficient gene transduction in cultured neonatal and adult microglia | Q28386583 | ||
| The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences | Q29619441 | ||
| Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon | Q33278100 | ||
| TMEM106B expression is reduced in Alzheimer's disease brains | Q33746240 | ||
| Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. | Q33908939 | ||
| Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model | Q34030144 | ||
| Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. | Q34169373 | ||
| Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron | Q34353625 | ||
| SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice | Q34478749 | ||
| Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. | Q34902920 | ||
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals | Q34973311 | ||
| Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells | Q34994553 | ||
| Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy | Q35221624 | ||
| Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects | Q35720396 | ||
| Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains | Q36204253 | ||
| Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2). | Q36283527 | ||
| Therapeutic activity of modified U1 core spliceosomal particles | Q36768787 | ||
| Pick one, but be quick: 5' splice sites and the problems of too many choices | Q38076663 | ||
| TREM2 Binds to Apolipoproteins, Including APOE and CLU/APOJ, and Thereby Facilitates Uptake of Amyloid-Beta by Microglia. | Q38754523 | ||
| Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions | Q39094922 | ||
| TREM2, Microglia, and Neurodegenerative Diseases. | Q39262121 | ||
| Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations | Q39627330 | ||
| Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene | Q40569597 | ||
| Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease | Q41845995 | ||
| An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects | Q42156108 | ||
| Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements | Q45217144 | ||
| Selective gene expression in brain microglia mediated via adeno-associated virus type 2 and type 5 vectors | Q45727079 | ||
| U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation | Q45869556 | ||
| A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs | Q45882595 | ||
| Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy | Q46272554 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 1 | |
| P304 | page(s) | 6937 | |
| P577 | publication date | 2018-05-02 | |
| P1433 | published in | Scientific Reports | Q2261792 |
| P1476 | title | Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation | |
| P478 | volume | 8 |
| Q100946066 | CELF2 regulates the species-specific alternative splicing of TREM2 |
| Q98224914 | Innovative Therapeutic and Delivery Approaches Using Nanotechnology to Correct Splicing Defects Underlying Disease |
| Q92511294 | Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis |
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