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List of works by Kinji Ohno

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

scientific article

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

scientific article published on 7 October 2003

A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space

scientific article published on 8 May 2015

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

scientific article published on 16 January 2012

AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.

scientific article published on May 1998

AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. ⬇️

scientific article

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

scientific article published on 01 March 1999

Activated FGFR3 promotes bone formation via accelerating endochondral ossification in mouse model of distraction osteogenesis

scientific article published on 9 August 2017

Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders

scientific article published on 21 August 2017

Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene

scientific article published on 3 August 2009

An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

scientific article published on 15 September 2017

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

Anti-MuSK antibodies in myasthenia gravis block binding of collagen Q to MuSK ⬇️

scientific article published on January 1, 2012

Anti-MuSK autoantibodies block binding of collagen Q to MuSK ⬇️

scientific article published on October 19, 2011

Author Correction: Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis

scientific article published on 14 February 2020

Beneficial biological effects and the underlying mechanisms of molecular hydrogen - comprehensive review of 321 original articles.

scientific article

Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy

scientific article published in January 2014

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

scientific article published on 31 December 2003

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

scientific journal article

CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay

scientific article

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

scientific article

Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.

scientific article

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

scientific article published on 16 January 2014

Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia.

scientific article

Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice

scientific article

Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling

scientific article

Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis

scientific article published on July 2014

Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms

scientific article

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

scientific article

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

scientific article published on May 2008

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

scientific article

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

scientific article published on 01 May 1999

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

scientific article

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

scientific article published in May 1998

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

scientific article

Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

scientific article published on 10 September 2014

Congenital myasthenic syndromes

scientific article published on 01 January 2003

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

scientific article (publication date: May 1997)

Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.

scientific article published in May 1998

Congenital myasthenic syndromes: A diverse array of molecular targets.

scientific article

Congenital myasthenic syndromes: experiments of nature

scientific article published on 01 April 1998

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

scientific article published on September 2003

Congenital myasthenic syndromes: progress over the past decade.

scientific article

Correction

Correction: Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model

scientific article published on 29 January 2016

Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction

scientific article published in Scientific Reports

Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia

scientific article published on 01 January 1989

Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome ⬇️

scientific article published on August 27, 1991

Direct sequencing of deleted mitochondrial DNA in myopathic patients

scientific article published on 01 October 1989

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

scientific article published on 01 April 1991

Dopaminergic differentiation of stem cells from human deciduous teeth and their therapeutic benefits for Parkinsonian rats

scientific article published on 9 April 2015

Drinking hydrogen water and intermittent hydrogen gas exposure, but not lactulose or continuous hydrogen gas exposure, prevent 6-hydorxydopamine-induced Parkinson's disease in rats

scientific article published on 20 May 2012

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

scientific article (publication date: April 2003)

Effects of preceding sialadenitis on the development of autoimmunity against salivary gland

scientific article published on 01 March 2007

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

scientific article

Essential role of GATA transcriptional factors in the activation of mast cells

scientific article published in January 2007

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

scientific article

Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria

scientific article published on 12 May 2022

FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization

scientific article published on 13 May 2015

FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis

scientific article

FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD ⬇️

scientific article published on January 1, 2013

Fluoxetine ameliorates cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling

scientific article published on 19 September 2017

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

scientific article published on 19 April 2012

Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.

scientific article published in May 1998

Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia

scientific article published in October 2001

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

scientific article

Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes ⬇️

scientific article published on March 2, 2013

HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform

scientific article

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.

scientific article published on 14 October 2013

Human branch point consensus sequence is yUnAy

scientific article

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme ⬇️

scientific article published on August 4, 1998

Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects

scientific article published on 22 May 2015

Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats

scientific article published on 4 February 2016

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.

scientific article

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

scientific article

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

scientific article published on 28 August 2007

Inhalation of hydrogen gas elevates urinary 8-hydroxy-2'-deoxyguanine in Parkinson's disease

scientific article published on 01 October 2018

Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells

scientific article published on 13 February 2020

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.

scientific article published on 24 March 2016

Interactions between genetic polymorphisms of glucose metabolizing genes and smoking and alcohol consumption in the risk of type 2 diabetes mellitus.

scientific article published on 14 August 2017

Intestinal Dysbiosis and Lowered Serum Lipopolysaccharide-Binding Protein in Parkinson's Disease

scientific article published on 5 November 2015

Is the serum creatine kinase level elevated in congenital myasthenic syndrome?

scientific article

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

scientific article

LRP4 induces extracellular matrix productions and facilitates chondrocyte differentiation

scientific article

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

scientific article

Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters

scientific article published on 11 January 2018

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

scientific article published on January 2004

Lansoprazole Upregulates Polyubiquitination of the TNF Receptor-Associated Factor 6 and Facilitates Runx2-mediated Osteoblastogenesis

scientific article

Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.

scientific article

MELAS- and kearns-sayre-type with myopathy and autoimmune polyendocrinopahy

scientific article published on 01 June 1996

MYRF is associated with encephalopathy with reversible myelin vacuolization

scientific article published on 19 December 2017

Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia

scientific article published on 21 October 2016

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

scientific article published on 01 August 1988

Maternal molecular hydrogen administration ameliorates rat fetal hippocampal damage caused by in utero ischemia-reperfusion.

scientific article

Mechanistic diversity underlying fast channel congenital myasthenic syndromes.

scientific article published on September 2003

Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in theFGFR3Gene

article

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia

scientific article (publication date: 2013)

Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis

scientific article published on 26 February 2019

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

scientific article

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

scientific article published in January 1991

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy ⬇️

scientific article published on January 26, 1991

Mitochondrial mutation in fatal infantile cardiomyopathy

scientific article published on 01 December 1990

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

scientific article published on 01 March 1998

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

scientific article published on 01 July 1993

Molecular hydrogen alleviates motor deficits and muscle degeneration in mdx mice.

scientific article published on 15 February 2016

Molecular hydrogen ameliorates several characteristics of preeclampsia in the Reduced Uterine Perfusion Pressure (RUPP) rat model.

scientific article published on 24 October 2016

Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases

scientific article published on 08 June 2012

Molecular hydrogen attenuates fatty acid uptake and lipid accumulation through downregulating CD36 expression in HepG2 cells

scientific article published on March 2013

Molecular hydrogen inhibits lipopolysaccharide/interferon γ-induced nitric oxide production through modulation of signal transduction in macrophages

scientific article published on 23 June 2011

Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease.

scientific article

Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells

scientific article published on 17 September 2009

Molecular hydrogen suppresses activated Wnt/β-catenin signaling

scientific article published on 25 August 2016

Molecular hydrogen upregulates heat shock response and collagen biosynthesis, and downregulates cell cycles - Meta-analyses of gene expression profiles

scientific article published on 9 February 2018

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

scientific article published on 01 July 1990

Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method

scientific article published on 01 July 1989

Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis

scientific article

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

scientific article

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation ⬇️

scientific article published on June 1, 1997

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

scientific article

Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction

scientific article

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

scientific article

Myasthenic syndrome caused by plectinopathy

scientific article

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

scientific article published on July 2009

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

scientific article

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

scientific article published on 5 December 2007

Myotonic dystrophy type 2 is rare in the Japanese population

scientific article published on 19 January 2012

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

scientific article

Neuroprotective potential of molecular hydrogen against perinatal brain injury via suppression of activated microglia.

scientific article

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

scientific article

Noninvasive monitoring of plasma L-dopa concentrations using sweat samples in Parkinson's disease.

scientific article published on 13 January 2015

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

scientific article published in March 2004

Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies

scientific article published on 3 October 2011

Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial

scientific article

Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy

scientific article

Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China

scientific article published on 26 February 2016

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

scientific article published on 24 July 2012

Position-specific binding of FUS to nascent RNA regulates mRNA length

scientific article published on May 2015

Progression of Parkinson's disease is associated with gut dysbiosis: Two-year follow-up study

scientific article published in November 2017

Progressive external ophthalmoplegia and myositis

scientific article published on 01 April 1993

Promethazine Hydrochloride Inhibits Ectopic Fat Cell Formation in Skeletal Muscle

scientific article published on 14 September 2017

Protein-Anchoring Therapy of Biglycan for Mdx Mouse Model of Duchenne Muscular Dystrophy.

scientific article published on 2 August 2016

Protein-anchoring Strategy for Delivering Acetylcholinesterase to the Neuromuscular Junction ⬇️

scientific article published on February 28, 2012

Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations

scientific article published on 20 February 2018

Quantification of hydrogen production by intestinal bacteria that are specifically dysregulated in Parkinson's disease

scientific article published in PLoS ONE

Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor

scientific article

R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/β-catenin signaling in endochondral ossification.

scientific article published on 21 March 2016

R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5.

scientific article

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

scientific article

Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.

scientific article published on 10 January 2018

Repositioning again of zonisamide for nerve regeneration

scientific article published on April 2016

Roles of collagen Q in MuSK antibody-positive myasthenia gravis

scientific article published on 24 April 2016

Rules and tools to predict the splicing effects of exonic and intronic mutations

scientific article published on 26 September 2017

S100A10 is required for the organization of actin stress fibers and promotion of cell spreading ⬇️

scientific article published on November 6, 2012

SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

scientific article published on 28 January 2014

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome

scientific article

SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein.

scientific article

Searching for genomic region of high-fat diet-induced type 2 diabetes in mouse chromosome 2 by analysis of congenic strains

scientific article

Serum Tyrosine-to-Phenylalanine Ratio is Low in Parkinson's Disease.

scientific article published on 2 April 2016

Short chain fatty acids-producing and mucin-degrading intestinal bacteria predict the progression of early Parkinson's disease

scientific article published on 01 June 2022

Simultaneous oral and inhalational intake of molecular hydrogen additively suppresses signaling pathways in rodents

scientific article

Six GU-rich (6GUR) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq

scientific article

Sleuthing molecular targets for neurological diseases at the neuromuscular junction ⬇️

scientific article published on May 1, 2003

Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease

scientific article published on 01 November 1989

Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis

scientific article published on 8 September 2012

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

scientific article

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.

scientific article published on 10 January 2017

Studies on therapeutic strategies for congenital myasthenic syndromes

scientific article published in January 2017

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

scientific article

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

scientific article published on 15 January 2009

The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons

scientific article

The spectrum of congenital myasthenic syndromes.

scientific article

The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.

scientific article

Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities

scientific article

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

scientific article

Tranilast stimulates endochondral ossification by upregulating SOX9 and RUNX2 promoters

scientific article published on 8 January 2016

Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's disease

scientific article published on 23 November 2010

Verapamil protects against cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling

scientific article

Viral vector-mediated [corrected] expression of human collagen Q in cultured cells

scientific article published on 14 February 2008

Wnt/β-catenin signaling suppresses expressions of Scx, Mkx, and Tnmd in tendon-derived cells

scientific article published on 27 July 2017

Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model ⬇️

scientific article

[Congenital myasthenic syndromes]

scientific article published on 01 January 2012

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

scientific article published on 20 September 2008

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