Tomohiro Chiyonobu
Kyoto Prefectural University of Medicine
GeneInduced pluripotent stem cellInternal medicinePhenotypeEndocrinologyPathologyMagnetic resonance imagingDiffusion MRIMolecular biologyNeurosciencePediatricsImmunologyGlycosylationEpilepsySpinal muscular atrophyCerebrospinal fluidCongenital muscular dystrophyBone marrowOhtahara syndromeWhite matterFukutinTransplantationFrameshift mutationExonMutationCancer researchGeneticsIntellectual disabilityHaploinsufficiencyMedicineBiologyGastroenterologyCell biology
52Publications
16H-index
861Citations
Publications 53
Newest
#1Jun Mori (Kyoto Prefectural University of Medicine)H-Index: 16
#2Atsushi Umemura (Kyoto Prefectural University of Medicine)H-Index: 16
Last. Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 16
view all 0 authors...
Context null Nonalcoholic fatty liver disease (NAFLD) is becoming a major issue worldwide, even in children. Multiple parallel hits hypothesis has been suggested as progress of NAFLD, but the mechanism of NAFLD is not completely understood. β-Tubulin is essential in mitoses, neuronal migration, and axon guidance during neuronal development. Pathogenic variants in the TUBB3 gene were shown to be associated with a wide spectrum of neurological abnormalities, but not accompanied with hepatic compli...
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#1Eisuke Ichise (Kyoto Prefectural University of Medicine)H-Index: 2
#2Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 16
Last. Shinichi Hirose (Fukuoka University)H-Index: 61
view all 14 authors...
Syntaxin-binding protein 1 (STXBP1; also called MUNC18-1), encoded by STXBP1, is an essential component of the molecular machinery that controls synaptic vesicle docking and fusion. De novo pathogenic variants of STXBP1 cause a complex set of neurological disturbances, namely STXBP1 encephalopathy (STXBP1-E) that includes epilepsy, neurodevelopmental disorders, and neurodegeneration. Several animal studies have suggested the contribution of GABAergic dysfunction in STXBP1-E pathogenesis. However...
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#1Yogik Onky Silvana Wijaya (Kobe University)H-Index: 2
#2Mawaddah Ar Rochmah (UGM: Gadjah Mada University)H-Index: 6
Last. Masakazu Shinohara (Kobe University)H-Index: 33
view all 22 authors...
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients. However, in the patients with intragenic SMN1 mutation, the relationship between phenotype and SMN2 copy number remains unclear. Methods We have analyzed a total of 515 Japanese patients with SMA-like symptoms (d...
3 CitationsSource
#1Satoshi Sakaue (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
view all 9 authors...
BACKGROUND Few studies have examined the effect of low-grade intraventricular hemorrhage (IVH) on the white matter in the cerebellum and its association with neurodevelopment. We evaluated cerebellar white matter at term-equivalent age (TEA) in preterm infants with low-grade IVH. Furthermore, we assessed neurodevelopmental outcomes at three years of age to examine the influence of low-grade IVH on neurodevelopment. METHODS Thirteen infants with low-grade IVH and 26 without IVH, born at <30 weeks...
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#1Emma Tabe Eko Niba (Kobe University)H-Index: 9
#2Hisahide Nishio (Kobe Gakuin University)H-Index: 28
Last. Masakazu Shinohara (Kobe University)H-Index: 33
view all 12 authors...
Abstract Background Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype. Method We analyzed 515 patients with clinical suspicion for SMA. SMN1 exons 7 and 8 deletion was detected by PCR followed by enzyme digestion. Hybrid SMN genes were further anal...
3 CitationsSource
#1Takenori Tozawa (Kyoto Prefectural University of Medicine)H-Index: 5
#2Akira NishimuraH-Index: 24
Last. Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 16
view all 13 authors...
Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss d...
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#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
view all 9 authors...
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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#1Shinichi Hirose (Fukuoka University)H-Index: 61
#2Yasuyoshi Tanaka (Fukuoka University)H-Index: 5
Last. Atsushi Ishii (Fukuoka University)H-Index: 20
view all 10 authors...
Abstract Epilepsy is among the most common neurological disorders, affecting approximately 50 million people worldwide. Importantly, epilepsy is genetically and etiologically heterogenous, but several epilepsy types exhibit similar clinical presentations. Epilepsy-associated genes are being identified. However, the molecular pathomechanisms remain largely unknown. Approximately one-third of epilepsy is refractory to multiple conventional anti-epileptic drugs (AEDs). Induced pluripotent stem cell...
4 CitationsSource
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
#1Takenori Tozawa (Kyoto Prefectural University of Medicine)H-Index: 5
#2Takashi Kasai (Kyoto Prefectural University of Medicine)H-Index: 18
Last. Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 16
view all 7 authors...
Abstract Background In July 2018, a rare and serious adverse effect (AE), namely, communicating hydrocephalus unrelated to meningitis or bleeding, was reported in relation to five patients treated with nusinersen for spinal muscular atrophy (SMA). Some patients were managed using a ventriculo-peritoneal shunt (VPS) implant and continued to receive nusinersen treatment. However, there is limited information concerning the effectiveness and safety of nusinersen treatment for patients with a VPS. C...
4 CitationsSource