「Branchpoints as potential targets of exon-skipping therapies for genetic disorders」の関連論文
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Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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Identification of distinct loci for de novo DNA methylation by DNMT3A and DNMT3B during mammalian development
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Identification and Characterization of Zn2+-Dependent DNAzymes
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CEBPγ facilitates lamellipodia formation and cancer cell migration through CERS6 upregulation
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Transposon delivery for CRISPR-based loss-of-function screen in mice identifies NF2 as a cooperating gene involved with the canonical WNT signaling molecular class of hepatocellular carcinoma
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
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Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
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Target-dependent RNA polymerase as universal platform for gene expression control in response to intracellular molecules
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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Setd1a plays pivotal roles for the survival and proliferation of retinal progenitors via histone modifications of Uhrf1
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G-quadruplex-forming nucleic acids interact with splicing factor 3B subunit 2 and suppress innate immune gene expression
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CRISPR/Cas9-mediated genome-edited mice reveal 10 testis-enriched genes are dispensable for male fecundity
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Characterization of FLOWERING LOCUS C 5 in Brassica rapa L.
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Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis
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Characterization of an active LINE-1 in the naked mole-rat genome.
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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The role of GPNMB ectodomain in breast cancer development
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An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22
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Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
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Extrahepatic gene delivery for cancer treatment and an investigation of factors that affect in vivo functional gene delivery [an abstract of entire text]
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Identification of FMRP target genes expressed during corticogenesis: Implication for common phenotypes among neurodevelopmental disorders
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A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Molecular Mechanism of Quinclorac Resistance in Multiple-Herbicide Resistant Echinochloa phyllopogon
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An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
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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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Construction of Fosmid-based SARS-CoV-2 replicons for antiviral drug screening and replication analyses in biosafety level 2 facilities
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Functional analysis of P53 negative regulators in Bombyx mori
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A two-step screening to optimize the signal response of an auto-fluorescent protein-based biosensor
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Next Generation Sequencing-Based Transcriptome Predicts Bevacizumab Efficacy in Combination with Temozolomide in Glioblastoma
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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A muscle fatigue-like contractile decline was recapitulated using skeletal myotubes from Duchenne muscular dystrophy patient-derived iPSCs
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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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Epigenomic dysregulation in AFP-producing gastric cancer
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Quantitation of Residual Host Cell DNA in Recombinant Adeno-Associated Virus Using Droplet Digital Polymerase Chain Reaction
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Study on Accessory Gene Regulator(AGR)Variants in Staphylococcus aureus
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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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Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
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miR-142 induces accumulation of reactive oxygen species (ROS) by inhibiting pexophagy in aged bone marrow mesenchymal stem cells
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Research for elucidation of immune evasion mechanisms and development of a novel immunotherapy for cancer in dogs [an abstract of entire text]
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Real-life progression of the use of a genetic panel in to diagnose neonatal cholestasis
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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia