[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 …
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 …
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 …
congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl …
[PDF][PDF] Speaker-dependent wavenet vocoder.
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 …
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 …
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 …
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 …
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
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 …
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
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 …
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‐…
Parkinson's disease. We found that homozygosity for the V66M polymorphism of the brain‐…