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The medaka draft genome and insights into vertebrate genome evolution
Teleosts comprise more than half of all vertebrate species and have adapted to a variety of marine and freshwater habitats. Their genome evolution and diversification are important subjects for theExpand
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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 abnormalExpand
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Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
The oncogenic mechanisms underlying acute lymphoblastic leukemia (ALL) in adolescents and young adults (AYA; 15–39 years old) remain largely elusive. Here we have searched for new oncogenes inExpand
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Human genetic variation database, a reference database of genetic variations in the Japanese population
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies forExpand
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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 andExpand
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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
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 ALSExpand
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A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
IMPORTANCE Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.Expand
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A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2
Kenny–Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anteriorExpand
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Minimum Recombiant Haplotype Configuration on Tree Pedigrees
TLDR
We study the problem of reconstructing haplotype configurations from genotype data under the Mendelian law of inheritance and the minimum recombination principle, which is very important for the construction of haplotype maps and genetic linkage/association analysis. Expand
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Fluctuations in the flow velocity of the Antarctic Shirase Glacier over an 11-year period
Abstract Temporal fluctuations in the flow velocity of Shirase Glacier in Antarctica were studied using 15 synthetic aperture radar (SAR) scenes obtained by the Japanese Earth Resources Satellite-1Expand
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