LIVIVO - Search results -

Search results

Result 1 - 10 of total 75

Search options

Article ; Online: The Current State of Charcot-Marie-Tooth Disease Treatment.

Okamoto, Yuji / Takashima, Hiroshi

2023 Volume 14, Issue 7

Abstract: Charcot-Marie-Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which ...

Abstract	Charcot-Marie-Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which impacts the peripheral nerves and causes lifelong disability, presents a significant barrier to the development of comprehensive treatments. An estimated 100 loci within the human genome are linked to various forms of CMT and its related inherited neuropathies. This review delves into prospective therapeutic strategies used for the most frequently encountered CMT variants, namely CMT1A, CMT1B, CMTX1, and CMT2A. Compounds such as PXT3003, which are being clinically and preclinically investigated, and a broad array of therapeutic agents and their corresponding mechanisms are discussed. Furthermore, the progress in established gene therapy techniques, including gene replacement via viral vectors, exon skipping using antisense oligonucleotides, splicing modification, and gene knockdown, are appraised. Each of these gene therapies has the potential for substantial advancements in future research.
MeSH term(s)	Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/metabolism ; Charcot-Marie-Tooth Disease/therapy ; Humans ; Mutation ; Intracellular Space/metabolism ; Calcium/metabolism ; Gene Silencing ; Genetic Therapy ; Animals
Chemical Substances	MPZ protein, human ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2023-07-01
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071391
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: The Current State of Charcot–Marie–Tooth Disease Treatment

Okamoto, Yuji / Takashima, Hiroshi

Genes (Basel). 2023 July 01, v. 14, no. 7

2023

Abstract: Charcot–Marie–Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which ...

Abstract	Charcot–Marie–Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which impacts the peripheral nerves and causes lifelong disability, presents a significant barrier to the development of comprehensive treatments. An estimated 100 loci within the human genome are linked to various forms of CMT and its related inherited neuropathies. This review delves into prospective therapeutic strategies used for the most frequently encountered CMT variants, namely CMT1A, CMT1B, CMTX1, and CMT2A. Compounds such as PXT3003, which are being clinically and preclinically investigated, and a broad array of therapeutic agents and their corresponding mechanisms are discussed. Furthermore, the progress in established gene therapy techniques, including gene replacement via viral vectors, exon skipping using antisense oligonucleotides, splicing modification, and gene knockdown, are appraised. Each of these gene therapies has the potential for substantial advancements in future research.
Keywords	exons ; gene targeting ; gene therapy ; genetic heterogeneity ; humans ; oligonucleotides ; peripheral nervous system diseases
Language	English
Dates of publication	2023-0701
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071391
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Book ; Online: Learning Deep Input-Output Stable Dynamics

Okamoto, Yuji / Kojima, Ryosuke

2022

Abstract: Learning stable dynamics from observed time-series data is an essential problem in robotics, physical modeling, and systems biology. Many of these dynamics are represented as an inputs-output system to communicate with the external environment. In this ... ...

Abstract	Learning stable dynamics from observed time-series data is an essential problem in robotics, physical modeling, and systems biology. Many of these dynamics are represented as an inputs-output system to communicate with the external environment. In this study, we focus on input-output stable systems, exhibiting robustness against unexpected stimuli and noise. We propose a method to learn nonlinear systems guaranteeing the input-output stability. Our proposed method utilizes the differentiable projection onto the space satisfying the Hamilton-Jacobi inequality to realize the input-output stability. The problem of finding this projection can be formulated as a quadratic constraint quadratic programming problem, and we derive the particular solution analytically. Also, we apply our method to a toy bistable model and the task of training a benchmark generated from a glucose-insulin simulator. The results show that the nonlinear system with neural networks by our method achieves the input-output stability, unlike naive neural networks. Our code is available at https://github.com/clinfo/DeepIOStability. Comment: NeurIPS 2022
Keywords	Mathematics - Dynamical Systems ; Computer Science - Machine Learning ; Computer Science - Robotics ; Mathematics - Optimization and Control
Subject code	006
Publishing date	2022-06-27
Publishing country	us
Document type	Book ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Single-Image Super-Resolution Improvement of X-ray Single-Particle Diffraction Images Using a Convolutional Neural Network.

Tokuhisa, Atsushi / Akinaga, Yoshinobu / Terayama, Kei / Okamoto, Yuji / Okuno, Yasushi

Journal of chemical information and modeling

2022 Volume 62, Issue 14, Page(s) 3352–3364

Abstract: Femtosecond X-ray pulse lasers are promising probes for the elucidation of the multiconformational states of biomolecules because they enable snapshots of single biomolecules to be observed as coherent diffraction images. Multi-image processing using an ... ...

Abstract	Femtosecond X-ray pulse lasers are promising probes for the elucidation of the multiconformational states of biomolecules because they enable snapshots of single biomolecules to be observed as coherent diffraction images. Multi-image processing using an X-ray free-electron laser has proven to be a successful structural analysis method for viruses. However, the performance of single-particle analysis (SPA) for flexible biomolecules with sizes ≤100 nm remains difficult. Owing to the multiconformational states of biomolecules and noisy character of diffraction images, diffraction image improvement by multi-image processing is often ineffective for such molecules. Herein, a single-image super-resolution (SR) model was constructed using an SR convolutional neural network (SRCNN). Data preparation was performed in silico to consider the actual observation situation with unknown molecular orientations and the fluctuation of molecular structure and incident X-ray intensity. It was demonstrated that the trained SRCNN model improved the single-particle diffraction image quality, corresponding to an observed image with an incident X-ray intensity (approximately three to seven times higher than the original X-ray intensity), while retaining the individuality of the diffraction images. The feasibility of SPA for flexible biomolecules with sizes ≤100 nm was dramatically increased by introducing the SRCNN improvement at the beginning of the various structural analysis schemes.
MeSH term(s)	Image Processing, Computer-Assisted/methods ; Lasers ; Neural Networks, Computer ; X-Ray Diffraction
Language	English
Publishing date	2022-07-12
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	190019-5
ISSN	1549-960X ; 0095-2338
ISSN (online)	1549-960X
ISSN	0095-2338
DOI	10.1021/acs.jcim.2c00660
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1230: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Transsynaptic modulation of presynaptic short-term plasticity in hippocampal mossy fiber synapses.

Vandael, David / Okamoto, Yuji / Jonas, Peter

Nature communications

2021 Volume 12, Issue 1, Page(s) 2912

Abstract: The hippocampal mossy fiber synapse is a key synapse of the trisynaptic circuit. Post-tetanic potentiation (PTP) is the most powerful form of plasticity at this synaptic connection. It is widely believed that mossy fiber PTP is an entirely presynaptic ... ...

Abstract	The hippocampal mossy fiber synapse is a key synapse of the trisynaptic circuit. Post-tetanic potentiation (PTP) is the most powerful form of plasticity at this synaptic connection. It is widely believed that mossy fiber PTP is an entirely presynaptic phenomenon, implying that PTP induction is input-specific, and requires neither activity of multiple inputs nor stimulation of postsynaptic neurons. To directly test cooperativity and associativity, we made paired recordings between single mossy fiber terminals and postsynaptic CA3 pyramidal neurons in rat brain slices. By stimulating non-overlapping mossy fiber inputs converging onto single CA3 neurons, we confirm that PTP is input-specific and non-cooperative. Unexpectedly, mossy fiber PTP exhibits anti-associative induction properties. EPSCs show only minimal PTP after combined pre- and postsynaptic high-frequency stimulation with intact postsynaptic Ca
MeSH term(s)	Animals ; Cells, Cultured ; Electric Stimulation ; Evoked Potentials/physiology ; Female ; Hippocampus/cytology ; Hippocampus/physiology ; Male ; Mossy Fibers, Hippocampal/physiology ; Neuronal Plasticity/physiology ; Patch-Clamp Techniques ; Presynaptic Terminals/physiology ; Pyramidal Cells/physiology ; Rats ; Synapses/physiology ; Synaptic Potentials/physiology
Language	English
Publishing date	2021-05-18
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-021-23153-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.

Kojima, Fumikazu / Okamoto, Yuji / Ando, Masahiro / Higuchi, Yujiro / Hobara, Takahiro / Yuan, Junhui / Yoshimura, Akiko / Hashiguchi, Akihiro / Matsuura, Eiji / Takashima, Hiroshi

Neurogenetics

2024 Volume 25, Issue 2, Page(s) 149–156

Abstract: Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders ranging from severe neonatal encephalopathy to early-onset spastic paraplegia. We identified a novel homozygous variant, c.340G > T ...

Abstract	Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders ranging from severe neonatal encephalopathy to early-onset spastic paraplegia. We identified a novel homozygous variant, c.340G > T (p.Gly114Cys), in the HPDL gene in two siblings with autosomal recessive hereditary spastic paraplegia (HSP). Despite sharing the same likely pathogenic variant, the older sister had pure HSP, whereas her brother had severe and complicated HSP, accompanied by early-onset mental retardation and abnormalities in magnetic resonance imaging. Given the clinical heterogeneity and potential for treatable conditions in HPDL-related diseases, we emphasize the importance of genetic testing for the HPDL gene.
MeSH term(s)	Humans ; Spastic Paraplegia, Hereditary/genetics ; Female ; Siblings ; Male ; Homozygote ; Pedigree ; Japan ; Child ; Magnetic Resonance Imaging ; Mutation/genetics ; East Asian People
Language	English
Publishing date	2024-01-29
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-024-00746-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5295: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Effective silicon production from SiCl

Okamoto, Yuji / Sumiya, Masatomo / Nakamura, Yuya / Suzuki, Yoshikazu

Science and technology of advanced materials

2020 Volume 21, Issue 1, Page(s) 482–491

Abstract: In the Siemens method, high-purity Si is produced by reducing ... ...

Abstract	In the Siemens method, high-purity Si is produced by reducing SiHCl
Language	English
Publishing date	2020-07-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	2027985-1
ISSN	1878-5514 ; 1468-6996
ISSN (online)	1878-5514
ISSN	1468-6996
DOI	10.1080/14686996.2020.1789438
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Mesoporous BaTiO3/TiO2 Double Layer for Electron Transport in Perovskite Solar Cells

Okamoto, Yuji / Suzuki Yoshikazu

The Journal of Physical Chemistry C. 2016 July 07, v. 120, no. 26

2016

Abstract: We report on the effect of BaTiO₃/TiO₂ mesoporous double layer (MDL) in the electron transport layer (ETL) of perovskite solar cells and enhancement of the photovoltaic performance. The conversion efficiency was enhanced from 9.89% for TiO₂ mesoporous ... ...

Abstract	We report on the effect of BaTiO₃/TiO₂ mesoporous double layer (MDL) in the electron transport layer (ETL) of perovskite solar cells and enhancement of the photovoltaic performance. The conversion efficiency was enhanced from 9.89% for TiO₂ mesoporous single layer (MSL) to 12.4% for BaTiO₃/TiO₂ MDL. The CH₃NH₃PbI₃ crystal size on the BaTiO₃/TiO₂ MDL was larger. The larger CH₃NH₃PbI₃ crystals resulted in the better light absorption and improved JSC. Moreover, VOC was also improved by suppressing a charge recombination, which is attributable to the fewer CH₃NH₃PbI₃ crystal boundaries and band structure of BaTiO₃/TiO₂ MDL. The results suggest that using BaTiO₃ as the second layer of the TiO₂ mesoporous layer is a promising way to boost the performance of perovskite solar cells.
Keywords	absorption ; crystals ; electron transfer ; photovoltaic cells ; porous media ; titanium dioxide ; volatile organic compounds
Language	English
Dates of publication	2016-0707
Size	p. 13995-14000.
Publishing place	American Chemical Society
Document type	Article
ISSN	1932-7455
DOI	10.1021%2Facs.jpcc.6b04642
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: [Inherited Creutzfeldt-Jakob disease with four-octapeptide repeat insertional mutation in the prion gene].

Douzono, Mika / Nobuhara, Yasuyuki / Maruta, Kyouko / Okamoto, Yuji / Sonoda, Yoshito / Takashima, Hiroshi

Rinsho shinkeigaku = Clinical neurology

2021 Volume 61, Issue 5, Page(s) 314–318

Abstract: We report a case of a 60-year-old man who presented with symptoms of memory loss, gait disorder, and sluggish movement. We considered both Parkinson's disease and multiple system atrophy as possible diagnoses and consequently hospitalized the patient ... ...

Abstract	We report a case of a 60-year-old man who presented with symptoms of memory loss, gait disorder, and sluggish movement. We considered both Parkinson's disease and multiple system atrophy as possible diagnoses and consequently hospitalized the patient owing to the worsening symptoms and the development of consciousness disorder. During the course of the disease, dementia, loss of consciousness, and movement disorders worsened rapidly within one year after admission, and the patient eventually developed mutism. The significant clinical characteristics of our case included no myoclonus and involuntary tremors in the extremities. There was no periodic synchronous discharge on electro-encephalography and cranial MRI with diffusion-weighted images showed no high-intensity findings in cortex. Prion protein genetic analysis identified four repeated insertional mutations in the octapeptide repeat (OPR) region, and the patient was diagnosed with inherited Creutzfeldt-Jakob disease. Cases of OPR insertional mutations are a few in Japan and occur in about 10% of population in Europe. Creutzfeldt-Jakob disease with OPR insertional mutation shows various clinical manifestations and atypical findings on electroencephalography and cranial MRI. Diagnosing for Creutzfeldt-Jakob disease with OPR insertional mutation is important in Prion protein genetic analysis.
MeSH term(s)	Brain/diagnostic imaging ; Creutzfeldt-Jakob Syndrome/diagnosis ; Creutzfeldt-Jakob Syndrome/genetics ; Diffusion Magnetic Resonance Imaging ; Electroencephalography ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Oligopeptides/genetics ; Pedigree ; Prions/genetics
Chemical Substances	Oligopeptides ; Prions
Language	Japanese
Publishing date	2021-04-17
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	604200-4
ISSN	1882-0654 ; 0009-918X
ISSN (online)	1882-0654
ISSN	0009-918X
DOI	10.5692/clinicalneurol.cn-001558
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 1455: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 223: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.

Lee, Jinhee / Iwasaki, Takuya / Kaida, Tomoko / Chuman, Hideki / Yoshimura, Akiko / Okamoto, Yuji / Takashima, Hiroshi / Miyata, Kazunori

American journal of ophthalmology case reports

2022 Volume 25, Page(s) 101315

Abstract: Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. The ...

Abstract	Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. The WFS1 gene sequence was analyzed in the patient and her father. Observations: A 46-year-old woman presented with bilateral vision loss. She had developed diabetes mellitus at age 22 and underwent bilateral cataract surgery at age 37. Visual acuity was 20/50 in the right eye and 20/200 in the left eye. The pupillary light reflex was sluggish in both eyes. Fundus examination showed bilateral optic atrophy, but there was no diabetic retinopathy. Cecocentral scotoma of both eyes was observed in Goldmann perimetry. There were no intracranial lesions on magnetic resonance imaging. Audiometry demonstrated high-frequency sensorineural hearing loss. Sequence analysis of the WFS1 gene revealed compound heterozygous mutation: c.908T>C p.L303P and c.1232_1233del, p.S411Cfs131 in the patient and heterozygous mutation c. 908 T>C, p. L303P in her father. Conclusions and importance:* The patient was diagnosed with adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 alleles. Wolfram syndrome must be ruled out even in adult-onset diabetic patients with optic atrophy.
Language	English
Publishing date	2022-01-22
Publishing country	United States
Document type	Case Reports
ISSN	2451-9936
ISSN (online)	2451-9936
DOI	10.1016/j.ajoc.2022.101315
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top

Your last searches

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED