「Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification」の関連論文
-
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
-
Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
-
Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
-
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)
-
Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1
-
Cell migration is impaired in XPA-deficient cells
-
Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
-
Neuroinflammation in neurodegenerative disease
-
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
-
Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
-
STAT3 induces hypoxic preconditioning against oxidative stress in neural stem cells
-
Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
-
Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
-
Establishment of induced pluripotent stem cells from schizophrenia discordant fraternal twins
-
Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
-
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
-
N-Acetylcysteine prevents amyloid-β secretion in neurons derived from human pluripotent stem cells with trisomy 21
-
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
Optimized sonoreactor for accelerative amyloid-fibril assays through enhancement of primary nucleation and fragmentation
-
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
-
Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations
-
Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
-
Disease modeling of pulmonary fibrosis using human pluripotent stem cell-derived alveolar organoids
-
A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
-
Iinfluence of plasma cytokine levels on the conversion risk from MCI to dementia in the Alzheimer's disease neuroimaging initiative database
-
A clinical and genetic study of SPG31 in Japan
-
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
-
SAK3 Administration Improves Spine Abnormalities and Cognitive Deficits in AppNL-G-F/NL-G-F Knock-in Mice by Increasing Proteasome Activity through CaMKII/Rpt6 Signaling
-
Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans
-
Mature Myotubes Generated From Human-Induced Pluripotent Stem Cells Without Forced Gene Expression
-
Senescence-associated secretory phenotype promotes chronic ocular graft-vs-host disease in mice and humans (本文)
-
Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
-
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
-
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
-
A novel HIF inhibitor halofuginone prevents neurodegeneration in a murine model of retinal ischemia-reperfusion (本文)
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Concepts of Regeneration for Spinal Diseases in 2021
-
Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC
-
Glucose transporter Glut1 controls diffuse invasion phenotype with perineuronal satellitosis in diffuse glioma microenvironment
-
Cellular senescence in white matter microglia is induced during ageing in mice and exacerbates the neuroinflammatory phenotype
-
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
-
Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
-
Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
-
The generation and insights of an inducible diabetes mellitus mouse model based on MafA and MafB double knockout
-
Differentiation of hypertrophic chondrocytes from human iPSCs for the in vitro modeling of chondrodysplasias
-
Telencephalon Organoids Derived from an Individual with ADHD Show Altered Neurodevelopment of Early Cortical Layer Structure
-
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
-
Novel Therapeutic Impact of Isorhamnetin for the Upstream Treatment of Atrial Fibrillation