Search Results - "Yamamoto, Keiko"
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Discovery of Nuclear Receptor Ligands and Elucidation of Their Mechanisms of Action
Published in Chemical & pharmaceutical bulletin (01-07-2019)“…To develop potent ligands for the vitamin D receptor (VDR), we designed and synthesized a series of vitamin D analogues with and without 22-alkyl substituents…”
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2
Glass syndrome derived from chromosomal breakage downstream region of SATB2
Published in Brain & development (Tokyo. 1979) (01-10-2024)“…Glass syndrome, derived from chromosomal 2q33.1 microdeletions, manifests with intellectual disability, microcephaly, epilepsy, and distinctive features,…”
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Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
Published in Journal of human genetics (09-08-2024)“…Reciprocal chromosomal translocation is one of genomic variations. When cytogenetically de novo reciprocal translocations are identified in patients with some…”
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4
Effects of a simple method for determining the time of insemination and different methods on artificial insemination in common bottlenose dolphins (Tursiops truncatus)
Published in Journal of Veterinary Medical Science (01-01-2024)“…In this study, we examined the usefulness of a simpler and more feasible method for determining the optimal timing of artificial insemination and the…”
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5
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome
Published in Internal Medicine (2023)“…Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein…”
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Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features
Published in American journal of medical genetics. Part A (01-02-2023)“…Interstitial microdeletions in the long arm of chromosome 3 are rare. In this study, we identified two patients with approximately 5‐Mb overlapping deletions…”
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Effect of Dietary Nori (Dried Laver) on Blood Pressure in Young Japanese Children: An Intervention Study
Published in Journal of epidemiology (05-01-2021)“…Few studies have examined the association between seaweed intake and blood pressure in children. We conducted an intervention study to investigate whether…”
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8
Discovery of Nuclear Receptor Ligands and Elucidation of Their Mechanisms of Action
Published in Chemical and Pharmaceutical Bulletin (01-07-2019)“…To develop potent ligands for the vitamin D receptor (VDR), we designed and synthesized a series of vitamin D analogues with and without 22-alkyl substituents…”
Get full text
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S100A4 Is a Biomarker and Regulator of Glioma Stem Cells That Is Critical for Mesenchymal Transition in Glioblastoma
Published in Cancer research (Chicago, Ill.) (01-10-2017)“…Glioma stem cells (GSC) and epithelial-mesenchymal transition (EMT) are strongly associated with therapy resistance and tumor recurrence, but the underlying…”
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10
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
Published in Human genome variation (07-08-2023)“…A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene ( KCTD3 ) [c.1192C>T; p.R398*] was identified in a…”
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
Published in Journal of human genetics (01-01-2024)“…Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of spontaneous…”
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12
Switching On Depression and Potentiation in the Cerebellum
Published in Cell reports (Cambridge) (16-01-2018)“…Long-term depression (LTD) and long-term potentiation (LTP) in the cerebellum are important for motor learning. However, the signaling mechanisms controlling…”
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13
HNF4α Is a Covalent Bond-Forming Receptor
Published in Journal of Nutritional Science and Vitaminology (01-01-2021)“…HNF4α is a nuclear receptor whose ligands are fatty acids. HNF4α is a target molecule for drug discovery research and thus we tested its covalent binding…”
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Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements
Published in American journal of medical genetics. Part A (01-01-2023)“…Most chromosomal aberrations revealed by chromosomal microarray testing (CMA) are simple; however, very complex chromosomal structural rearrangements can also…”
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15
Synthesis of Tetrahydrofuro[2,3-d]oxazoles and Oxazoles by Hypervalent Iodine (III)-Promoted [2 + 2 + 1] Annulation
Published in Chemical & pharmaceutical bulletin (01-03-2022)“…Reaction of a hypervalent iodine reagent with bistriflimide efficiently promotes three-component regioselective cyclization of tetrahydrofuro[2,3-d]oxazoles…”
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16
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern
Published in Human mutation (01-12-2020)“…Chromosomal triplications can be classified into recurrent and nonrecurrent triplications. Most of the nonrecurrent triplications are embedded in duplicated…”
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Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C
Published in American journal of medical genetics. Part A (01-06-2023)“…Many disease‐causing genes have been identified by determining the breakpoints of balanced chromosomal translocations. Recent progress in genomic analysis has…”
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Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns
Published in Journal of human genetics (01-11-2023)“…The mechanism of chromosomal rearrangement associated with inverted-duplication-deletion (INV-DUP-DEL) pattern formation has been investigated by many…”
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Structural Insights into the Loss-of-Function R288H Mutant of Human PPARγ
Published in Biological & pharmaceutical bulletin (01-09-2021)“…Peroxisome proliferator-activated receptor gamma (PPARγ) is a nuclear receptor and the molecular target of thiazolidinedione-class antidiabetic drugs. It has…”
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MMX geodesy investigations: science requirements and observation strategy
Published in Earth, planets, and space (15-12-2021)“…In order to investigate the origin of Phobos and Deimos, the Japanese Martian Moons eXploration (MMX) mission is scheduled for launch in 2024. MMX will make…”
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