「Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion」の関連論文
-
Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
-
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
-
Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
-
Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
-
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
Regulated splicing of large exons is linked to phase‐separation of vertebrate transcription factors
-
Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
-
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
All reported non-canonical splice site variants in GLA cause aberrant splicing
-
Neuroinflammation in neurodegenerative disease
-
Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
-
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
-
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
-
FRET-based detection and quantification of HIV-1 Virion Maturation
-
Studies on Age-related Changes of Lipid Metabolisms
-
Initiation of Supporting Cell Activation for Hair Cell Regeneration in the Avian Auditory Epithelium: An Explant Culture Model
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
-
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
-
Networking and Specificity-Changing DNA Methyltransferases in Helicobacter pylori.
-
Genetic and Epigenetic Pathogenesis of Acromegaly
-
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
-
Development of genetic management methods for rice varieties and prediction of spontaneous mutation frequencies using next-generation sequencing technology [an abstract of entire text]
-
Clinicopathological impacts of DNA methylation alterations on pancreatic ductal adenocarcinoma : prediction of early recurrence based on genome-wide DNA methylation profiling (本文)
-
Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
-
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
-
Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
-
Studies on Forensic Species Identification by Fluorescent Multiplex PCR
-
Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Dual CRISPR-Cas3 system for inducing multi-exon skipping in DMD patient-derived iPSCs
-
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
-
An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
-
Concepts of Regeneration for Spinal Diseases in 2021
-
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
-
Functional analysis of an opioid precursor gene expressed in regulatory T cells
-
Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
-
Study on the role of CtBP2 in pancreatic β cell
-
DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
-
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
-
TEAD1 trapping by the Q353R–Lamin A/C causes dilated cardiomyopathy
-
Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
-
Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
-
Disease modeling of pulmonary fibrosis using human pluripotent stem cell-derived alveolar organoids
-
Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
-
Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)