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The medaka draft genome and insights into vertebrate genome evolution
A high-quality draft genome sequence of a small egg-laying freshwater teleost, medaka, revealed that eight major interchromosomal rearrangements took place in a remarkably short period of ∼50 Myr after the whole-genome duplication event in the teleost ancestor and afterwards, intriguingly, the medaka genome preserved its ancestral karyotype for more than 300Myr.
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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.
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
The data show that DUX4 can become an oncogenic driver as a result of somatic chromosomal rearrangements and that AYA-ALL may be a clinical entity distinct from ALL at other ages, and that Dux4 fusions were preferentially detected in the AYA generation.
Human genetic variation database, a reference database of genetic variations in the Japanese population
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.
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
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.
A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2
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.
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2
The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT.
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
It is confirmed that mutations in ELOVL4 can cause dominantly inherited neurodegeneration severely affecting the cerebellum and brainstem, even when erythrokeratodermia variabilis is absent.
Crustal movement of Antarctica and Syowa Station based on GPS measurements
In Antarctica, sea level rise and crustal uplift have occurred due to ice sheet melting and mantle response since the Last Glacial Maximum (LGM). The International GNSS Service (IGS) provides…