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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
TLDR
Whole-genome sequencing identifies noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and Oculopharyngealmyopathy with leukoencephalopathy, three disorders with overlapping clinical features and neuroimaging findings.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
TLDR
It is shown that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME), and RNA toxicity as the mechanism underlying disease pathogenesis is identified.
Human genetic variation database, a reference database of genetic variations in the Japanese population
TLDR
The results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants and constructed a Japanese-specific major allele reference genome, by which the number of unique mapping of the short reads in the data has increased 0.045% on average.
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
TLDR
The results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2
TLDR
Evidence is provided that FAM111A is a key molecule for normal bone development, height gain, and parathyroid hormone development and/or regulation and in accordance with a recent independent report by a Swiss group that KCS2 is caused by a de novo mutation of FAM 111A.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood.
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