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Article
A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation
Inflammation is characterized by a biphasic cycle consisting initially of a proinflammatory phase that is subsequently resolved by anti-inflammatory processes. Interleukin-1β (IL-1β) is a master regulator of p...
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Article
Open AccessSchaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be...
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Article
Open AccessA novel CUL4B splice site variant in a young male exhibiting less pronounced features
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and shor...
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Article
Open AccessA novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microceph...
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Article
Chestnut goby, Gymnogobius castaneus (O’Shaughnessy 1875), as a suitable host of Anemina arcaeformis (Heude 1877) in floodplain water bodies, Hokkaido, Northern Japan
This study examined a host-parasite relationship between chestnut goby Gymnogobius castaneus (O’Shaughnessy 1875) and a unionid mussel Anemina arcaeformis (Heude 1877) in three floodplain water bodies of the Ishi...
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Article
Open AccessDefects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficie...
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Article
Open AccessA combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly re...
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Article
Open AccessTruncating mutation in NFIA causes brain malformation and urinary tract defects
Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling the 1p...
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Article
An atlas of active enhancers across human cell types and tissues
Enhancers control the correct temporal and cell-type-specific activation of gene expression in multicellular eukaryotes. Knowing their properties, regulatory activity and targets is crucial to understand the r...
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Article
Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms
Rotavirus, one of the major causes of severe gastroenteritis in children, occasionally causes central nervous system complications. Recently several patients with acute encephalitis/encephalopathy due to rotav...
