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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
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- Publication type:
- Article
Functional Differentiation of the Glycosyltransferases That Contribute to the Chemical Diversity of Bioactive Flavonol Glycosides in Grapevines (Vitis vinifera).
- Published in:
- Plant Cell, 2010, v. 22, n. 8, p. 2856, doi. 10.1105/tpc.110.074625
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- Publication type:
- Article
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 581, doi. 10.1038/jhg.2015.68
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- Article
Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194036
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- Publication type:
- Article
Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0186678
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- Publication type:
- Article
Cbfb Regulates Bone Development by Stabilizing Runx Family Proteins.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 4, p. 706, doi. 10.1002/jbmr.2379
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- Article
Dlx5 and Mef2 Regulate a Novel Runx2 Enhancer for Osteoblast-Specific Expression.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 9, p. 1960, doi. 10.1002/jbmr.2240
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- Publication type:
- Article
HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/1471-2164-16-S2-S7
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- Publication type:
- Article
TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads.
- Published in:
- BMC Genomics, 2014, v. 15, p. 1, doi. 10.1186/1471-2164-15-S10-S5
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- Publication type:
- Article
SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 664, doi. 10.1186/1471-2164-15-664
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- Publication type:
- Article
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00419-7
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- Publication type:
- Article
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-36490-1
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- Publication type:
- Article
Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33612-7
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- Publication type:
- Article
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals.
- Published in:
- Nature Communications, 2015, v. 6, n. 8, p. 8018, doi. 10.1038/ncomms9018
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- Publication type:
- Article
A Dentist-Led Oral Care System Can Prevent Stroke-Associated Pneumonia: The Effects of Early Intervention by Dental Team.
- Published in:
- Journal of Multidisciplinary Healthcare, 2023, v. 16, p. 2937, doi. 10.2147/JMDH.S415572
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- Publication type:
- Article
Insights into Mus musculus Population Structure across Eurasia Revealed by Whole-Genome Analysis.
- Published in:
- Genome Biology & Evolution, 2022, v. 14, n. 5, p. 1, doi. 10.1093/gbe/evac068
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- Publication type:
- Article
Bcl2l1 Deficiency in Osteoblasts Reduces the Trabecular Bone Due to Enhanced Osteoclastogenesis Likely through Osteoblast Apoptosis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17319, doi. 10.3390/ijms242417319
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- Article
Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 5019, doi. 10.3390/ijms24055019
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- Article
Prediction Model with HLA-A*33:03 Reveals Number of Days to Develop Liver Cancer from Blood Test.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4761, doi. 10.3390/ijms24054761
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- Publication type:
- Article
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.
- Published in:
- BMC Bioinformatics, 2015, v. 16, p. S4, doi. 10.1186/1471-2105-16-S1-S4
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- Publication type:
- Article
A genome‐wide association study identifying SVEP1 variant as a predictor of response to tolvaptan for cirrhotic ascites.
- Published in:
- Liver International, 2021, v. 41, n. 12, p. 2944, doi. 10.1111/liv.15022
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- Publication type:
- Article
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
- Published in:
- Genetics, 2020, v. 214, n. 4, p. 1079, doi. 10.1534/genetics.119.303006
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- Article
Involvement of chalcone reductase in the soybean isoflavone metabolon: identification of GmCHR5, which interacts with 2‐hydroxyisoflavanone synthase.
- Published in:
- Plant Journal, 2018, v. 96, n. 1, p. 56, doi. 10.1111/tpj.14014
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- Publication type:
- Article
Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population.
- Published in:
- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 7, p. 2221, doi. 10.1534/g3.120.401242
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- Publication type:
- Article
Xanthogranulomatous appendicitis with elevated tumor marker misdiagnosed as cecal cancer: a case report.
- Published in:
- Journal of Surgical Case Reports, 2021, v. 2021, n. 7, p. 1, doi. 10.1093/jscr/rjab274
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- Publication type:
- Article
Intrahepatic cholangiocarcinoma with gastric infiltration misdiagnosed as gastric submucosal tumor.
- Published in:
- Journal of Surgical Case Reports, 2020, v. 2020, n. 11, p. 1, doi. 10.1093/jscr/rjaa359
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- Publication type:
- Article
Evolutionary History of the Risk of SNPs for Diffuse-Type Gastric Cancer in the Japanese Population.
- Published in:
- Genes, 2020, v. 11, n. 7, p. 775, doi. 10.3390/genes11070775
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- Publication type:
- Article
A single-nucleotide-polymorphism in the 5′-flanking region of MSX1 gene as a predictive marker candidate for platinum-based therapy of esophageal carcinoma.
- Published in:
- Therapeutic Advances in Medical Oncology, 2022, p. 1, doi. 10.1177/17588359221080580
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- Article
STR-realigner: a realignment method for short tandem repeat regions.
- Published in:
- 2016
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- Publication type:
- Product Review
AP-SKAT: highly-efficient genome-wide rare variant association test.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3094-3
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- Publication type:
- Article
Short tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent tree.
- Published in:
- BMC Genomics, 2016, v. 17, p. 465, doi. 10.1186/s12864-016-2821-0
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- Publication type:
- Article
A Bayesian approach for estimating allele-specific expression from RNA-Seq data with diploid genomes.
- Published in:
- BMC Genomics, 2016, v. 17, p. 7, doi. 10.1186/s12864-015-2295-5
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- Publication type:
- Article
Implications of HLA diversity among regions for bone marrow donor searches in Japan.
- Published in:
- HLA: Immune Response Genetics, 2020, v. 96, n. 1, p. 24, doi. 10.1111/tan.13881
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- Article
A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease.
- Published in:
- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0337-2
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- Publication type:
- Article
The Deep Phylogeny of Land Plants Inferred from a Full Analysis of Nucleotide Base Changes in Terms of Mutation and Selection.
- Published in:
- Journal of Molecular Evolution, 2004, v. 58, n. 4, p. 479, doi. 10.1007/s00239-003-2570-y
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- Article
The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.
- Published in:
- 2022
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- Publication type:
- Product Review
An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn's Disease in Japanese Populations.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66951-5
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- Publication type:
- Article
Bcl2 Deficiency Activates FoxO through Akt Inactivation and Accelerates Osteoblast Differentiation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086629
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- Publication type:
- Article
Osteocyte Network; a Negative Regulatory System for Bone Mass Augmented by the Induction of Rankl in Osteoblasts and Sost in Osteocytes at Unloading.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0040143
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- Publication type:
- Article
Overexpression of Bcl2 in Osteoblasts Inhibits Osteoblast Differentiation and Induces Osteocyte Apoptosis.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027487
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- Article
Uranium-Lead Systematics of Lunar Basaltic Meteorite Northwest Africa 2977.
- Published in:
- Mass Spectrometry (2187-137X), 2023, v. 12, p. 1, doi. 10.5702/massspectrometry.A0115
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- Publication type:
- Article
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.
- Published in:
- Human Genetics, 2024, v. 143, n. 1, p. 19, doi. 10.1007/s00439-023-02617-2
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- Publication type:
- Article
Comprehensive analysis of microsatellite polymorphisms in human populations.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 45, doi. 10.1007/s00439-022-02484-3
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- Publication type:
- Article
A Feasible Study of In-Situ Measurements of Light Isotopes and Organic Molecules with High Resolution Mass Spectrometer MULTUM on the OKEANOS Mission.
- Published in:
- Transactions of the Japan Society of Aeronautical & Space Sciences, Aerospace Technology Japan, 2021, v. 19, n. 4, p. 477, doi. 10.2322/tastj.19.477
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- Article
The structural origin of metabolic quantitative diversity.
- Published in:
- Scientific Reports, 2016, p. 31463, doi. 10.1038/srep31463
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- Publication type:
- Article
Similar Structures to the E-to-H Helix Unit in the Globin-Like Fold are Found in Other Helical Folds.
- Published in:
- Biomolecules (2218-273X), 2014, v. 4, n. 1, p. 268, doi. 10.3390/biom4010268
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- Publication type:
- Article
Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.887121
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- Publication type:
- Article
Response to COVID‐19 vaccine is reduced in patients with inflammatory bowel disease, but improved with additional dose.
- Published in:
- Journal of Gastroenterology & Hepatology, 2023, v. 38, n. 1, p. 44, doi. 10.1111/jgh.16001
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- Article
Clinical and genetic risk factors for decreased bone mineral density in Japanese patients with inflammatory bowel disease.
- Published in:
- Journal of Gastroenterology & Hepatology, 2018, v. 33, n. 11, p. 1873, doi. 10.1111/jgh.14149
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- Publication type:
- Article
Phasing analysis of lung cancer genomes using a long read sequencer.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31133-6
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- Publication type:
- Article