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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal… Expand
Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.
BACKGROUND & AIMS Esophageal squamous cell carcinoma (ESCC) is the predominant form of esophageal cancer in Japan. Smoking and drinking alcohol are environmental risk factors for ESCC, whereas single… Expand
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and… Expand
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
- Y. Takahashi, Y. Fukuda, +36 authors S. Tsuji
- Biology, Medicine
- American journal of human genetics
- 7 November 2013
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by the degeneration of motor neurons and typically results in death within 3-5 years from onset. Familial ALS… Expand
Mutations in COQ2 in familial and sporadic multiple-system atrophy.
BACKGROUND Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal… Expand
Variants associated with Gaucher disease in multiple system atrophy
- J. Mitsui, T. Matsukawa, +68 authors S. Tsuji
- Annals of clinical and translational neurology
- 28 February 2015
Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple… Expand
The Astrocyte-Targeted Therapy by Bushi for the Neuropathic Pain in Mice
Background There is accumulating evidence that the activation of spinal glial cells, especially microglia, is a key event in the pathogenesis of neuropathic pain. However, the inhibition of… Expand
Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificities.
- K. Uchimura, F. Fasakhany, +4 authors T. Muramatsu
- Biology, Medicine
- Biochemical and biophysical research…
- 2 August 2000
N-Acetylglucosamine-6-O-sulfotransferase (GlcNAc6ST) transfers sulfate to the C-6 position of non-reducing N-acetylglucosamine (GlcNAc) residues. We cloned human and mouse cDNAs encoding a novel… Expand
Implication of amphiphysin 1 and dynamin 2 in tubulobulbar complex formation and spermatid release.
Tubulobulbar complexes (TBCs) are composed of several tubular invaginations formed at the plasma membrane of testicular Sertoli cells. TBCs are transiently formed at the contact region with… Expand
Successful treatment of an unresectable inflammatory myofibroblastic tumor of the frontal bone using a cyclooxygenase-2 inhibitor and methotrexate.
Inflammatory myofibroblastic tumor (IMT) is a disease characterized by tumorous lesions consisting of myofibroblastic spindle cells and inflammatory cells that occur primarily in the soft tissues and… Expand