User profiles for Kazuhiro Kobayashi

Kazuhiro Kobayashi

- Verified email at med.kobe-u.ac.jp - Cited by 9049

Kazuhiro Kobayashi

- Verified email at g.sp.m.is.nagoya-u.ac.jp - Cited by 1410

[PDF][PDF] Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness

…, S Suzuki, R Hata, S Ueno, T Seki, K Kobayashi… - Cell stem cell, 2013 - cell.com
Oligomeric forms of amyloid-β peptide (Aβ) are thought to play a pivotal role in the
pathogenesis of Alzheimer's disease (AD), but the mechanism involved is still unclear. Here, we …

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

K Kobayashi, Y Nakahori, M Miyake, K Matsumura… - Nature, 1998 - nature.com
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal
recessive disorders in Japan (incidence is 0.7–1.2 per 10,000 births), is characterized by …

[PDF][PDF] Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

A Yoshida, K Kobayashi, H Manya, K Taniguchi… - Developmental cell, 2001 - cell.com
Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by
congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl …

[PDF][PDF] Speaker-dependent wavenet vocoder.

A Tamamori, T Hayashi, K Kobayashi, K Takeda… - Interspeech, 2017 - isca-archive.org
In this study, we propose a speaker-dependent WaveNet vocoder, a method of synthesizing
speech waveforms with WaveNet, by utilizing acoustic features from existing vocoder as …

[HTML][HTML] A review of HPV-related head and neck cancer

K Kobayashi, K Hisamatsu, N Suzui, A Hara… - Journal of clinical …, 2018 - mdpi.com
Head and neck squamous cell carcinomas (HNSCCs) arise in the mucosal lining of the upper
aerodigestive tract. Tobacco and alcohol use have been reported to be associated with …

[PDF][PDF] Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA) n

N Sato, T Amino, K Kobayashi, S Asakawa… - The American Journal of …, 2009 - cell.com
Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal-dominant neurodegenerative
disorder showing progressive cerebellar ataxia mainly affecting Purkinje cells. The …

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

…, N Kajimura, T Miyoshi, H Sawai, K Kobayashi… - Nature …, 2008 - nature.com
Exquisitely precise synapse formation is crucial for the mammalian CNS to function correctly.
Retinal photoreceptors transfer information to bipolar and horizontal cells at a specialized …

[PDF][PDF] Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy

M Kanagawa, K Kobayashi, M Tajiri, H Manya, A Kuga… - Cell reports, 2016 - cell.com
Glycosylation is an essential post-translational modification that underlies many biological
processes and diseases. α-dystroglycan (α-DG) is a receptor for matrix and synaptic proteins …

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

M Taniguchi-Ikeda, K Kobayashi, M Kanagawa, C Yu… - Nature, 2011 - nature.com
Fukuyama muscular dystrophy (FCMD; MIM253800), one of the most common autosomal
recessive disorders in Japan, was the first human disease found to result from ancestral …

Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms

Y Momose, M Murata, K Kobayashi… - Annals of Neurology …, 2002 - Wiley Online Library
We studied 20 single nucleotide polymorphisms in 18 candidate genes for association with
Parkinson's disease. We found that homozygosity for the V66M polymorphism of the brain‐…