Kenichiro Yamada
YOU?
Author Swipe
View article: Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy
Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy Open
TENM4 is a transmembrane protein belonging to the teneurin family. It is localized in neurons and oligodendrocytes, where it regulates oligodendrocytes maturation and myelination. While missense variants of TENM4 were reported to cause ess…
View article: Myokine BDNF highly expressed in Type I fibers inhibits the differentiation of myotubes into Type II fibers
Myokine BDNF highly expressed in Type I fibers inhibits the differentiation of myotubes into Type II fibers Open
Background Myofibers are broadly classified as slow-twitch (Type I) and fast-twitch (Type II) fibers. These two types of myofibers coexist within the same skeletal muscle tissue, determining the contractile and metabolic properties of skel…
View article: The efficacy and safety of intravenous immunoglobulin infusion in 12 h for the initial treatment of Kawasaki disease
The efficacy and safety of intravenous immunoglobulin infusion in 12 h for the initial treatment of Kawasaki disease Open
We concluded that the initial 12-h IVIG treatment was comparable to the 24-h treatment in terms of efficacy and safety. This will enable physicians to feel confident about pursuing a shorter course of treatment with similar results as conv…
View article: Identification of B.1.346 lineage of SARS-CoV-2 in Japan: Genomic evidence of re-entry of Clade 20C
Identification of B.1.346 lineage of SARS-CoV-2 in Japan: Genomic evidence of re-entry of Clade 20C Open
Objectives Whole SARS-CoV-2 genome sequencing from COVID-19 patients is useful for infection control and regional trends evaluation. We report a lineage data collected from hospitals in the Kanto region of Japan. Methods We performed whole…
View article: Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C
Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C Open
SARS-CoV-2 whole-genome sequencing of samples from COVID-19 patients is useful for informing infection control. Datasets of these genomes assembled from multiple hospitals can give critical clues to regional or national trends in infection…
View article: Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex Open
SAD kinases regulate presynaptic vesicle clustering and neuronal polarization. A previous report demonstrated that Sada−/− and Sadb−/− double-mutant mice showed perinatal lethality with a severe defect in axon/dendrite differentiation, but…
View article: High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice Open
SLC19A3 deficiency, also called thiamine metabolism dysfunction syndrome-2 (THMD2; OMIM 607483), is an autosomal recessive neurodegenerative disorder caused by mutations in SLC19A3, the gene encoding thiamine transporter 2. To investigate …
View article: Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter Open
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristi…
View article: The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of <i>PIK3CA</i>-related overgrowth spectrum (PROS)
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of <i>PIK3CA</i>-related overgrowth spectrum (PROS) Open
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3C…
View article: The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child
The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old child Open