「Branchpoints as potential targets of exon-skipping therapies for genetic disorders」の関連論文
-
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
-
Dual CRISPR-Cas3 system for inducing multi-exon skipping in DMD patient-derived iPSCs
-
All reported non-canonical splice site variants in GLA cause aberrant splicing
-
Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion
-
Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
-
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN
-
Orthogonal Protein-Responsive mRNA Switches for Mammalian Synthetic Biology
-
Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells
-
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
-
Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
-
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
-
Robust and efficient knock-in in embryonic stem cells and early-stage embryos of the common marmoset using the CRISPR-Cas9 system (本文)
-
MECHANISTIC ANALYSIS OF THE INITIATION OF RETROVIRAL GENE SILENCING BY REPROGRAMMING FACTORS
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
-
Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
-
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
-
Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice
-
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
-
Efficient ssODN-Mediated Targeting by Avoiding Cellular Inhibitory RNAs through Precomplexed CRISPR-Cas9/sgRNA Ribonucleoprotein
-
Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
-
HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
-
Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
-
ILF2 enhances the DNA cytosine deaminase activity of tumor mutator APOBEC3B in multiple myeloma cells
-
EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
-
Cytosine base editing systems with minimized off-target effect and molecular size
-
Conformational change of RNA‐helicase DHX30 by ALS/FTD‐linked FUS induces mitochondrial dysfunction and cytosolic aggregates
-
An ancient retroviral RNA element hidden in mammalian genomes and its involvement in co-opted retroviral gene regulation
-
Chemical biology studies on nucleic acid recognition, modification, and secondary structures
-
Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
-
DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
-
Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs
-
Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
-
Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
-
Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model
-
Genome-scale CRISPR/Cas9 screening for gemcitabine modulators in pancreatic cancer
-
Development and optimization of CRISPR-Cas9-based artificial transcription activator systems
-
Development and optimization of CRISPR-Cas9-based artificial transcription activator systems
-
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
-
Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
-
Local application of Usag-1 siRNA can promote tooth regeneration in Runx2-deficient mice
-
Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation (本文)
-
Synthetic circular RNA switches and circuits that control protein expression in mammalian cells
-
Uniform transgene activation in Tet-On systems depends on sustained rtTA expression
-
Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology