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View article: Establishment of human Leber’s hereditary optic neuropathy model using iPSC-derived retinal organoids
Establishment of human Leber’s hereditary optic neuropathy model using iPSC-derived retinal organoids Open
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease caused by mitochondrial DNA mutations, leading to central vision loss and retinal ganglion cell (RGC) degeneration. Progress in understanding LHON and developing treatme…
View article: Establishment of vascularized human retinal organoids from induced pluripotent stem cells
Establishment of vascularized human retinal organoids from induced pluripotent stem cells Open
Stem cell-derived retinal organoids (ROs) have been investigated for applications in regenerative medicine, retinal disease models, and compound safety evaluation. Although the development of 3D organoids has provided novel opportunities f…
View article: Association of the immunogenicity of intramuscular SARS-CoV-2 mRNA vaccination with computed tomography muscle images in patients with muscular disorders
Association of the immunogenicity of intramuscular SARS-CoV-2 mRNA vaccination with computed tomography muscle images in patients with muscular disorders Open
Backgrounds Intramuscular mRNA vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have a low intensity and latency of antibody response in patients with muscular disorders (MDs). However, the mechanisms involved …
View article: Consideration for the appropriate use of antimicrobials in long-term care wards
Consideration for the appropriate use of antimicrobials in long-term care wards Open
Background Antimicrobials need to be prescribed appropriately and used optimally to minimize the propagation of multidrug-resistant pathogens. Few studies have explored the appropriate use of antimicrobials in long-term care wards for pati…
View article: Natural history of Becker muscular dystrophy: a multicenter study of 225 patients
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients Open
Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central ner…
View article: Efficacy of 5% sofpironium bromide gel in Duchenne muscular dystrophy with palmoplantar hyperhidrosis: A retrospective case study
Efficacy of 5% sofpironium bromide gel in Duchenne muscular dystrophy with palmoplantar hyperhidrosis: A retrospective case study Open
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle‐wasting disease. Notably, several extramuscular manifestations and complications of advanced DMD, including skin disorders, are known. However, hyperhidrosis and its treatm…
View article: Efficacy and safety of nemolizumab in paediatric patients aged 6–12 years with atopic dermatitis with moderate-to-severe pruritus: results from a phase III, randomized, double-blind, placebo-controlled, multicentre study
Efficacy and safety of nemolizumab in paediatric patients aged 6–12 years with atopic dermatitis with moderate-to-severe pruritus: results from a phase III, randomized, double-blind, placebo-controlled, multicentre study Open
Background Atopic dermatitis (AD) is a chronic, inflammatory skin condition affecting up to one-quarter of children. Uncontrolled pruritus associated with childhood AD, and the accompanying scratching, negatively impacts quality of life (Q…
View article: Immunogenicity of SARS-CoV-2 mRNA intramuscular vaccination in patients with muscular disorders
Immunogenicity of SARS-CoV-2 mRNA intramuscular vaccination in patients with muscular disorders Open
Backgrounds Little clinical data is available on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients with muscular disorders (MDs). The immunogenicity of SARS-CoV-2 vaccines against MDs, in particular, remains unknown.…
View article: Development of an osteosarcoma model with <i>MYCN</i> amplification and <i>TP53</i> mutation in hiPS cell‐derived neural crest cells
Development of an osteosarcoma model with <i>MYCN</i> amplification and <i>TP53</i> mutation in hiPS cell‐derived neural crest cells Open
Mesenchymal stem cell‐ or osteoblast‐derived osteosarcoma is the most common malignant bone tumor. Its highly metastatic malignant phenotypes, which are often associated with a poor prognosis, have been correlated with the modulation of TP…
View article: Efficacy of interferential current transcutaneous electrical sensory stimulation through the neck skin for treating dysphagia in children with disabilities: A case series
Efficacy of interferential current transcutaneous electrical sensory stimulation through the neck skin for treating dysphagia in children with disabilities: A case series Open
Finding a suitable treatment for dysphagia has been challenging and the efficacy of neuromuscular electrical stimulation has been recognized. Moreover, the beneficial effect of interferential current transcutaneous electrical sensory stimu…
View article: RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathy
RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathy Open
Dystrophinopathy is caused by alterations in DMD . Approximately 1% of patients remain genetically undiagnosed because intronic variations are not detected by standard methods. Here, we combined laboratory and in silico analyses to identif…
View article: Development of diabetic retinopathy model using retinal organoids
Development of diabetic retinopathy model using retinal organoids Open
Stem cell-derived retinal organoids (ROs) have been investigated for applications in regenerative medicine, retinal disease models, and the safety evaluation of compounds. Although the advent of 3D organoids has provided innovative avenues…
View article: Threshold dose of cow’s milk in sensitization to casein higher than those of casein and β-lactoglobulin in children with cow’s milk allergy
Threshold dose of cow’s milk in sensitization to casein higher than those of casein and β-lactoglobulin in children with cow’s milk allergy Open
Our results suggest that children with CM allergy sensitized to casein alone have a higher threshold dose than those sensitized to both casein and BLG.
View article: Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT
Characteristics of Li‐Fraumeni syndrome in Japan: A review study by the special committee of JSHT Open
Li‐Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the majority of patients with LFS have been identified with germline variants in the p53 tumor suppressor ( TP53 ) gene. In the past three decades, considerable…
View article: Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study
Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study Open
Objective The novel morpholino antisense oligonucleotide viltolarsen targets exon 53 of the dystrophin gene, and could be an effective treatment for patients with Duchenne muscular dystrophy (DMD). We investigated viltolarsen’s ability to …
View article: Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients. Open
Our data suggested that PEA was one of the possible biomarkers of human SMA reflecting metabolic abnormalities due to the SMN protein deficiency.
View article: Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy
Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy Open
Objective Duchenne muscular dystrophy (DMD) is a progressive muscular disease characterized by chronic cycles of inflammatory and necrotic processes. Prostaglandin D 2 (PGD 2 ) is produced by hematopoietic PGD synthase (HPGDS), which is pa…
View article: Study Protocol for a Multicenter, Open-Label, Single-Arm Study of Tranilast for Cardiomyopathy of Muscular Dystrophy
Study Protocol for a Multicenter, Open-Label, Single-Arm Study of Tranilast for Cardiomyopathy of Muscular Dystrophy Open
Duchenne (DMD) and other forms of muscular dystrophy (MD) are collectively rare and affect approx imately 20 per 100,000 people. The on-going development of exon skipping and other novel therapies for DMD is expected to lead to improvement…
View article: The Effects of Rufinamide on &lt;i&gt;in Vitro&lt;/i&gt; Spinal Muscular Atrophy Model
The Effects of Rufinamide on <i>in Vitro</i> Spinal Muscular Atrophy Model Open
Spinal muscular atrophy (SMA) is devastating genetic disease characterized by progressive loss of motor neuron and skeletal muscle weakness. SMA is the most common lethal genetic disease in infancy. SMA is caused by deletion or mutation of…
View article: Identification of the Stress Which Causes Optineurin Aggregation
Identification of the Stress Which Causes Optineurin Aggregation Open
Glaucoma is a common neurodegenerative disease that can cause blindness and occurs worldwide. Currently, lowering intraocular pressure is the only therapy available to protect retinal ganglion cells (RGCs). However, this therapy does not p…
View article: Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients
Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients Open
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy characterized by progressive muscle degeneration. This disease is caused by the mutation or deletion of the dystrophin gene. Currently, there are no effec…
View article: VGF nerve growth factor inducible is involved in retinal ganglion cells death induced by optic nerve crush
VGF nerve growth factor inducible is involved in retinal ganglion cells death induced by optic nerve crush Open
VGF nerve growth factor inducible (VGF) is a polypeptide that is induced by neurotrophic factors and is involved in neurite growth and neuroprotection. The mRNA of the Vgf gene has been detected in the adult rat retina, however the roles p…
View article: Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma
Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma Open
Timolol should be considered a potential therapeutic agent specific to OPTNE50K-NTG because it can reduce the OPTNE50K aggregation in E50K-iPSCs-RGCs by enhancing autophagic flux and neuroprotective effects.
View article: The protective effects of levetiracetam on spinal muscular atrophy models
The protective effects of levetiracetam on spinal muscular atrophy models Open
Background
View article: The inhibition of Notch signaling ameliorates the motor functional deficits and astrocytic abnormality of in vitro and in vivo spinal muscular atrophy models
The inhibition of Notch signaling ameliorates the motor functional deficits and astrocytic abnormality of in vitro and in vivo spinal muscular atrophy models Open
Background