6 Result(s)
within
Yutaka Negishi
Human Genetics
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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
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...
