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1.
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原著(症例報告除く)
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Thiazoline-related innate fear stimuli orchestratehypothermia and anti-hypoxia via sensory TRPA1activation 2021/04
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2.
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症例報告
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Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies. 2026/06
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3.
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原著(症例報告除く)
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Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population. 2026/06
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4.
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原著(症例報告除く)
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Raman signatures of Cnm-positive Streptococcus mutans: III, clinical validation. 2026/05
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5.
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原著(症例報告除く)
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Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning. 2026/04
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6.
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原著(症例報告除く)
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Raman signatures of Cnm-positive Streptococcus mutans: I, the molecular origin of cerebral microbleeds. 2026/04
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7.
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原著(症例報告除く)
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Raman signatures of Cnm-positive Streptococcus mutans: II, screening the virulence of clinical isolates. 2026/04
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8.
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原著(症例報告除く)
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Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population. 2026/04
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9.
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その他
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川崎病の罹患感受性因子としての腸内細菌叢の乱れ 2025/12
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10.
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原著(症例報告除く)
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Anamorelin in Cancer Cachexia: Gut Microbiota Effects and CONUT Score as a Predictor of Response. 2025/11
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11.
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原著(症例報告除く)
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HMGA2 links morphological evolution and microenvironment dynamics to systemic therapy response in clear cell renal cell carcinoma. 2025/11
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12.
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症例報告
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Elderly-onset iatrogenic cerebral amyloid angiopathy presenting with lobar and deep haemorrhages. 2025/10
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13.
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原著(症例報告除く)
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Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene. 2025/10
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14.
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原著(症例報告除く)
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The Arf pathway is required for resolving endoplasmic reticulum stress during T-cell activation 2025/09
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15.
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原著(症例報告除く)
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Fecal Bifidobacterium Serves as a Predictor of Postoperative Recurrence After Neoadjuvant Chemotherapy in Pancreatic Cancer. 2025/08
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16.
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原著(症例報告除く)
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Molecular Insights into the Superiority of Platelet Lysate over FBS for hASC Expansion and Wound Healing 2025/07
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17.
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原著(症例報告除く)
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Blood DNA virome associates with autoimmune diseases and COVID-19 2025/01
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18.
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原著(症例報告除く)
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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis 2025/01
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19.
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原著(症例報告除く)
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Raman signatures of type A and B influenza viruses: molecular origin of the " catch and kill" inactivation mechanism mediated by micrometric silicon nitride powder 2025/01
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20.
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症例報告
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VANGL2とGRHL2のヘテロミスセンス変異を認めた脊髄脂肪腫の1例 2024/04
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21.
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症例報告
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二分脊椎症における遺伝子変異と形態異常 2024/04
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22.
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原著(症例報告除く)
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Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes 2024/03
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23.
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原著(症例報告除く)
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OLIG2 translocates to chromosomes during mitosis via a temperature downshift: a novel neural cold response of mitotic bookmarking 2024/01
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24.
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原著(症例報告除く)
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Raman Fingerprints of SARS-CoV-2 Omicron Subvariants: Molecular Roots of Virological Characteristics and Evolutionary Directions 2023/11
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25.
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原著(症例報告除く)
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Dysbiosis of the gut microbiota as a susceptibility factor for Kawasaki disease 2023/10
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26.
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原著(症例報告除く)
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Raman Multi-Omic Snapshot and Statistical Validation of Structural Differences between Herpes Simplex Type I and Epstein-Barr Viruses 2023/10
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27.
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原著(症例報告除く)
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Relationship between circulating mitochondrial DNA and microRNA in patients with major depression 2023/10
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28.
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症例報告
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Adenoid ameloblastoma with BRAF p.V600E mutation revealing ameloblastomatous origin: a first case report 2023/09
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29.
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原著(症例報告除く)
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Changes in Multiple microRNA Levels with Antidepressant Treatment Are Associated with Remission and Interact with Key Pathways: A Comprehensive microRNA Analysis 2023/07
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30.
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原著(症例報告除く)
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Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy 2023/07
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31.
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原著(症例報告除く)
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Rap1 organizes lymphocyte front-back polarity via RhoA signaling and talin1 2023/07
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32.
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原著(症例報告除く)
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OLIG2 is an in vivo bookmarking transcription factor in the developing neural tube in mouse 2023/05
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33.
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症例報告
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ゲノム解析にて特定したtubulin遺伝子の変異を有する難治性脳形成障害 2023/05
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34.
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原著(症例報告除く)
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Ago2 and a miRNA reduce Topoisomerase 1 for enhancing DNA cleavage in antibody diversification by activation-induced cytidine deaminase 2023/04
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35.
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症例報告
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全ゲノム解析を用いた難治性脳形成障害の遺伝子異常検索 2023/04
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36.
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原著(症例報告除く)
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Areas of Crush Nuclear Streaming Should Be Included as Tumor Content in the Era of Molecular Diagnostics 2023/03
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37.
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症例報告
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新規subtypeとみなされるBRAF mutationが検出されたadenoid ameloblastomaの一例 2023/03
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38.
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原著(症例報告除く)
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Deep learning-based predictions of clear and eosinophilic phenotypes in clear cell renal cell carcinoma 2023/01
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39.
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その他
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Activation-induced cytidine deaminase(AID)による免疫記憶形成に必要なAgo2-miRNA依存的なtopoisomerase1(Top1)の調節機構 2023
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40.
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その他
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Ago2とmiRNAはAID依存性の抗体遺伝子組換えにおけるDNA切断を促進するためにDNAトポイソメラーゼ1を減少させる 2023
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41.
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その他
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本邦のうつ病患者における疾患発症,薬物治療反応性に関するゲノムワイド関連解析(GWAS) 2023
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42.
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原著(症例報告除く)
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Accelerated Angiogenesis of Human Umbilical Vein Endothelial Cells Under Negative Pressure Was Associated With the Regulation of Gene Expression Involved in the Proliferation and Migration 2022/12
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43.
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原著(症例報告除く)
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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy 2022/12
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44.
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症例報告
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Successful pregnancy and delivery in a young-onset hypertrophic cardiomyopathy patient with a novel doublet-base substitution in the MYH7 gene 2022/10
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45.
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原著(症例報告除く)
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Development and validation of a vascularity-based architectural classification for clear cell renal cell carcinoma: correlation with conventional pathological prognostic factors, gene expression patterns, and clinical outcomes 2022/06
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46.
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その他
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Correction to: Development and validation of a vascularity-based architectural classification for clear cell renal cell carcinoma: correlation with conventional pathological prognostic factors, gene expression patterns, and clinical outcomes 2022/05
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47.
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原著(症例報告除く)
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Multiple Pre-Treatment miRNAs Levels in Untreated Major Depressive Disorder Patients Predict Early Response to Antidepressants and Interact with Key Pathways 2022/03
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48.
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原著(症例報告除く)
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PBRM1 Immunohistochemical Expression Profile Correlates with Histomorphological Features and Endothelial Expression of Tumor Vasculature for Clear Cell Renal Cell Carcinoma 2022/02
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49.
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原著(症例報告除く)
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Histologic-Based Tumor-Associated Immune Cells Status in Clear Cell Renal Cell Carcinoma Correlates with Gene Signatures Related to Cancer Immunity and Clinical Outcomes 2022/01
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50.
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その他
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【ゲノム医療におけるデータベース-使い方とコツ】一般集団・多因子疾患関連バリアントのデータベース Human Genetic Variation Database(HGVD) 2022/01
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51.
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原著(症例報告除く)
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Eosinophilic features in clear cell renal cell carcinoma correlate with outcomes of immune checkpoint and angiogenesis blockade 2021/09
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52.
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原著(症例報告除く)
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Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data 2021/06
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53.
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原著(症例報告除く)
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Population dynamics in the Japanese Archipelago since the Pleistocene revealed by the complete mitochondrial genome sequences 2021/06
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54.
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原著(症例報告除く)
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Positive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study 2021/06
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55.
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症例報告
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Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease 2021/05
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56.
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原著(症例報告除く)
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Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN 2021/05
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57.
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原著(症例報告除く)
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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. 2020/12
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58.
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原著(症例報告除く)
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EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening 2020/11
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59.
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原著(症例報告除く)
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Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease. 2020/11
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60.
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原著(症例報告除く)
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Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study. 2020/03
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61.
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原著(症例報告除く)
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Legacy Data Confounds Genomics Studies 2020/01
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62.
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原著(症例報告除く)
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IgG4-related disease in the Japanese population: a genome-wide association study. 2019/09
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63.
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原著(症例報告除く)
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Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 2019/04
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64.
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原著(症例報告除く)
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National platform for Rare Diseases Data Registry of Japan 2019/01
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65.
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原著(症例報告除く)
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Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells. 2018/12
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66.
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原著(症例報告除く)
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A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome 2018/08
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67.
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原著(症例報告除く)
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Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. 2018/07
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68.
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原著(症例報告除く)
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Risk allele of FZD4 gene for familial exudative vitreoretinopathy 2018/06
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69.
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原著(症例報告除く)
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 2018/04
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5件表示
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全件表示(69件)
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