「Branchpoints as potential targets of exon-skipping therapies for genetic disorders」の関連論文
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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Small molecule-based detection of non-canonical RNA G-quadruplex structures that modulate protein translation
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Development of antisense oligonucleotides for suppressing breast cancer cell proliferation and the system for evaluating drug response of cardiomyocytes
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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Inhibition of heat shock protein 90 destabilizes receptor tyrosine kinase ROR1 in lung adenocarcinoma
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
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Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
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KANPHOS: A Database of Kinase-Associated Neural Protein Phosphorylation in the Brain
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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PML-RARαはMED1との結合を介して全トランス型レチノイン酸依存性の転写活性化を誘導する
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Study on Contribution of Trimethyl Guanosine Synthase Tgs1 to Heterochromatin Formation in Fission Yeast
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Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC
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De novo Selection of Macrocyclic Peptides Binding to TMEPAI family by Means of Random Non-standard Peptides Integrated Discovery System
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Distinctive roles of syntaxin binding protein 4 and its action target, TP63, in lung squamous cell carcinoma: a theranostic study for the precision medicine
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Regulated splicing of large exons is linked to phase‐separation of vertebrate transcription factors
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Identification of T cell receptors targeting a neoantigen derived from recurrently mutated FGFR3
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Systemic recombination in a novel Cre transgenic line, CAG-Cre C57BL/6N mouse
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Identification of the ultrahigh-risk subgroup in neuroblastoma cases through DNA methylation analysis and its treatment exploiting cancer metabolism
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
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Inhibition of microRNA-33b specifically ameliorates abdominal aortic aneurysm formation via suppression of inflammatory pathways
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Comprehensive analysis of TCR function using a novel system reveals the multiple unconventional tumor-reactive T cells in breast cancer-infiltrating lymphocytes
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Gut contractile organoids: a novel model system to study the cellular synchronization in gastrointestinal motility
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Mature Myotubes Generated From Human-Induced Pluripotent Stem Cells Without Forced Gene Expression
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Study on the role of CtBP2 in pancreatic β cell
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A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells
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Discovery of Non-Cysteine-Targeting Covalent Inhibitors by Activity-Based Proteomic Screening with a Cysteine-Reactive Probe
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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice
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One-step induction of photoreceptor-like cells from human iPSCs by delivering transcription factors
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Alternative transcription start sites of the enolase-encoding gene enoA are stringently used in glycolytic/gluconeogenic conditions in Aspergillus oryzae
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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Comprehensive genomics in androgen receptor-dependent castration-resistant prostate cancer identifies an adaptation pathway mediated by opioid receptor kappa 1
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SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
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Immunobiochemical, molecular biological, and reverse genetical studies on vitellogenin receptor candidates in medaka, Oryzias latipes [an abstract of entire text]
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Design and In vivo Evaluation of Novel mRNA Lipid Nanoparticles Beyond the Hepatocytes Towards a New Era of Personalized Gene Therapies [an abstract of entire text]
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias