「Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy」の関連論文
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Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN
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Functional Analysis of Cancer-associated IDH mutations
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Wilson’s disease model establishment from human induced pluripotent stem cells
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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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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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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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Inhibition of cell-surface molecular GPR87 with GPR87-suppressing adenoviral vector disturb tumor proliferation in lung cancer cells
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Study on Contribution of Trimethyl Guanosine Synthase Tgs1 to Heterochromatin Formation in Fission Yeast
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
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Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
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All reported non-canonical splice site variants in GLA cause aberrant splicing
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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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Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
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Coxfa4l3, a novel mitochondrial electron transport chain Complex 4 subunit protein, switches from Coxfa4 during spermatogenesis
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Systematic analysis on the seeding activity of familial mutant forms of α-synuclein
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Avoiding entry into intracellular protein degradation pathways by signal mutations increases protein secretion in Pichia pastoris
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De Novo T790M Mutation in an L858R Epidermal Growth Factor Receptor Mutant-Associated Lung Adenocarcinoma
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Characterization of an active LINE-1 in the naked mole-rat genome.
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Site-directed mutagenesis study of host and viral proteins : single nucleotide variants of human TBK1 and functional sites of ebolavirus VP35
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St8sia1-deficiency in mice alters tumor environments of gliomas, leading to reduced disease severity
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Presenilin is essential for ApoE secretion, a novel role of presenilin involved in Alzheimer’s disease pathogenesis
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Combination of tumor necrosis factor-α and epidermal growth factor induces the adrenergic-to-mesenchymal transdifferentiation in SH-SY5Y neuroblastoma cells
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Functional analysis of P53 negative regulators in Bombyx mori
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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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Inflammatory bowel disease-associated ubiquitin ligase RNF183 promotes lysosomal degradation of DR5 and TRAIL- induced caspase activation
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Inflammatory bowel disease-associated ubiquitin ligase RNF183 promotes lysosomal degradation of DR5 and TRAIL- induced caspase activation
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An ancient retroviral RNA element hidden in mammalian genomes and its involvement in co-opted retroviral gene regulation
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PCBP2 knockdown promotes ferroptosis in malignant mesothelioma
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精巣高発現タンパク質の精子形成における機能と応用
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Involvement of Transcription Factor 21 in the Pathogenesis of Fibrosis in Endometriosis
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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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Local application of Usag-1 siRNA can promote tooth regeneration in Runx2-deficient mice
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Identification of PTPRσ-interacting proteins by proximity-labelling assay
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The pluripotent stem cell-specific transcript ESRG is dispensable for human pluripotency
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The role of H3K27 demethylation in retinal development
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Studies on Thermoregulation and Growth Performance in Chicks with av-UCP mutation
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Secretory expression of mammalian NOTCH tandem epidermal growth factor-like repeats based on increased O-glycosylation
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Development of binary vector systems for promoter assay and expression analysis of AtMLLR genes in Arabidopsis thaliana
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Rab35–GEFs, DENND1A and folliculin differentially regulate podocalyxin trafficking in two- and three-dimensional epithelial cell cultures.
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Epstein-Barr Virus BBLF1 Mediates Secretory Vesicle Transport to Facilitate Mature Virion Release
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Phosphorylation of the anaphase promoting complex activator FZR1/CDH1 is required for meiosis II entry in mouse male germ cell (本文)
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Observing the nonvectorial yet cotranslational folding of a multidomain protein, LDL receptor, in the ER of mammalian cells.
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MYCL promotes iPSC-like colony formation via MYC Box 0 and 2 domains
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Functional and genomic characterization of patient-derived xenograft model to study adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma
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N-glycans on EGF domain-specific O-GlcNAc transferase (EOGT) facilitate EOGT maturation and peripheral endoplasmic reticulum localization
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Generation and evaluation of a transgenic zebrafish for tissue-specific expression of a dominant-negative Rho-associated protein kinase-2
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Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias