Akari Takai
Kyoto Prefectural University of Medicine
GeneInduced pluripotent stem cellInternal medicineSynapsePhenotypeObstetricsOncologyCardiologyNeuroscienceGene knockdownPediatricsOMIM : Online Mendelian Inheritance in ManModel organismDrosophila (subgenus)ChemotherapySBDSB-cell lymphomaChorioamnionitisIntussusception (medical disorder)EpilepsyEpileptic spasmsRibosomopathyVaginal deliveryLeukemiaTetralogy of FallotSorafenibMyeloid leukemiaNeuronMyeloidDevelopmental regressionNeurodevelopmental disorderRibosome biogenesisMEDLINEBloodyContext (language use)Drosophila melanogasterConstipationShwachman–Diamond syndromeExtremely Preterm InfantFms-Like Tyrosine Kinase 3TransplantationHepatic hemangioendotheliomaCausal geneATP-binding cassette transporterRefractoryGestationMutationCancer researchSubfamilyBioinformaticsSignal transductionText miningMedicineBiologyRibosomeCell biologyPeritoneal fluidPharmacology
8Publications
2H-index
6Citations
Publications 8
Newest
#1Akari Takai (Kyoto Prefectural University of Medicine)H-Index: 2
#2Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 16
Last. Masamitsu Yamaguchi (Kyoto Institute of Technology)H-Index: 38
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Abstract Genetic defects in ribosome biogenesis result in a group of diseases called ribosomopathies. Patients with ribosomopathies manifest multiorgan phenotypes, including neurological impairments. A well-characterized ribosomopathy, Shwachman-Diamond syndrome (SDS), is mainly associated with loss-of-function mutations in the causal gene SBDS. Children with SDS have neurodevelopmental disorders; however, the neurological consequences of SBDS dysfunction remain poorly defined. In the present st...
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Developmental and epileptic encephalopathies (DEEs) are the spectrum of severe epilepsies characterized by early-onset, refractory seizures occurring in the context of developmental regression or plateauing. Early infantile epileptic encephalopathy (EIEE) is one of the earliest forms of DEE, manifesting as frequent epileptic spasms and characteristic electroencephalogram findings in early infancy. In recent years, next-generation sequencing approaches have identified a number of monogenic determ...
3 CitationsSource
#1Ibuki Ueoka (Kyoto Institute of Technology)H-Index: 5
#2Akari Takai (Kyoto Prefectural University of Medicine)H-Index: 2
Last. Masamitsu Yamaguchi (Kyoto Institute of Technology)H-Index: 38
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Abstract The pan-neuron-specific knockdown of dABCA, a Drosophila homologue of the human ATP binding cassette subfamily A member 13 gene, increases social space without affecting climbing ability and induces the early onset of evening activity in adult flies followed by relatively high activity throughout the day. Satellite bouton numbers in the presynaptic terminals of motor neurons are increased in dABCA knockdown flies. In the present study, we further characterized pan-neuron-specific dABCA ...
2 CitationsSource
#1Akari Takai (Kyoto Prefectural University of Medicine)H-Index: 2
#2Tatsuji Hasegawa (Kyoto Prefectural University of Medicine)H-Index: 7
Last. Hajime Hosoi (Kyoto Prefectural University of Medicine)H-Index: 33
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A 613 g girl was born at 23 weeks of gestation by vaginal delivery due to maternal chorioamnionitis. She developed constipation and abdominal distention on day 2, a small amount of peritoneal fluid and low blood pressure on day 4 and bloody stool on day 6. Abdominal X-ray showed a non-specific bowel gas pattern. Necrotising enterocolitis (NEC) was suspected and treated by fasting, vasopressor support …
2 CitationsSource
#1Akari Takai (Kyoto Prefectural University of Medicine)H-Index: 2
#2Tomoko Iehara (Kyoto Prefectural University of Medicine)H-Index: 21
Last. Hajime Hosoi (Kyoto Prefectural University of Medicine)H-Index: 33
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1 CitationsSource
Sorafenib is a promising agent for treating pediatric refractory acute myeloid leukemia (AML) exhibiting FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD); however, its optimal use needs to be established. We report 2 cases of refractory pediatric FLT3-ITD-positive AML treated with sorafenib. Case 1 underwent stem cell transplantation (SCT) without entering remission, despite the use of chemotherapy. This patient relapsed despite receiving post-SCT sorafenib. Chemotherapy combine...
1 CitationsSource