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Minor GPI(-) granulocyte populations in aplastic anemia and healthy individuals derived from a few PIGA-mutated hematopoietic stem progenitor cells.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00932-5
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- Publication type:
- Article
AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11124, doi. 10.3390/ijms231911124
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- Publication type:
- Article
Human Endogenous Retrovirus (HERVK9) Structural Polymorphism With Haplotypic HLA-A Allelic Associations.
- Published in:
- Genetics, 2008, v. 180, n. 1, p. 445, doi. 10.1534/genetics.108.090340
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- Publication type:
- Article
Rapid Evolution of Major Histocompatibiity Complex Class I Genes in Primates Generates New Disease Alleles in Humans via Hitchhiking Diversity.
- Published in:
- Genetics, 2006, v. 173, n. 3, p. 1555, doi. 10.1534/genetics.106.057034
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- Publication type:
- Article
Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 8, p. 449, doi. 10.1038/jhg.2015.50
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- Publication type:
- Article
A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 517, doi. 10.1038/jhg.2013.32
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- Publication type:
- Article
Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 4, p. 210, doi. 10.1038/jhg.2013.2
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- Publication type:
- Article
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 10, p. 621, doi. 10.1038/jhg.2012.91
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- Publication type:
- Article
The HLA genomic loci map: expression, interaction, diversity and disease.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 1, p. 15, doi. 10.1038/jhg.2008.5
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- Publication type:
- Article
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1376643
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- Publication type:
- Article
Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 7, p. 1655, doi. 10.1002/jbmr.385
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- Publication type:
- Article
Postnatal expression of CD38 in astrocytes regulates synapse formation and adult social memory.
- Published in:
- EMBO Journal, 2023, v. 42, n. 15, p. 1, doi. 10.15252/embj.2022111247
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- Publication type:
- Article
Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese.
- Published in:
- 2019
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- Publication type:
- journal article
Predictors associated with a better response to the Japanese aluminum‐free hepatitis A vaccine, Aimmugen<sup>®</sup>, for people living with HIV.
- Published in:
- Hepatology Research, 2022, v. 52, n. 3, p. 227, doi. 10.1111/hepr.13736
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- Publication type:
- Article
CRISPR/Cas9-mediated gene knockout in the mouse brain using in utero electroporation.
- Published in:
- Scientific Reports, 2016, p. 20611, doi. 10.1038/srep20611
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- Publication type:
- Article
A novel RFX6 heterozygous mutation (p.R652X) in maturity‐onset diabetes mellitus: A case report.
- Published in:
- 2021
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- Publication type:
- Case Study
Association Between Serum 25-Hydroxyvitamin D Concentrations, CDX2 Polymorphism in Promoter Region of Vitamin D Receptor Gene, and Chronic Pain in Rural Japanese Residents.
- Published in:
- Journal of Pain Research, 2022, v. 15, p. 1475, doi. 10.2147/JPR.S356630
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- Publication type:
- Article
Molecular Characterization of an Intact p53 Pathway Subtype in High-Grade Serous Ovarian Cancer.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114491
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- Publication type:
- Article
Possible Association between Dysfunction of Vitamin D Binding Protein (GC Globulin) and Migraine Attacks.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105319
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- Publication type:
- Article
Detection of Ancestry Informative HLA Alleles Confirms the Admixed Origins of Japanese Population.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060793
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- Publication type:
- Article
Isolation of ferret astrocytes reveals their morphological, transcriptional, and functional differences from mouse astrocytes.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.877131
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- Publication type:
- Article
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 1, p. 1, doi. 10.1210/jendso/bvab159
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- Publication type:
- Article
HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients.
- Published in:
- Human Genetics, 2013, v. 132, n. 12, p. 1405, doi. 10.1007/s00439-013-1347-7
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- Publication type:
- Article
Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0259663
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- Publication type:
- Article
Relationships among the β3-adrenargic receptor gene Trp64Arg polymorphism, hypertension, and insulin resistance in a Japanese population.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0255444
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- Publication type:
- Article
New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0858-z
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- Publication type:
- Article
The major histocompatibility complex (Mhc) class IIB region has greater genomic structural flexibility and diversity in the quail than the chicken.
- Published in:
- BMC Genomics, 2006, v. 7, p. 1, doi. 10.1186/1471-2164-7-322
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- Publication type:
- Article
The Gallus gallus RJF reference genome reveals an MHCY haplotype organized in gene blocks that contain 107 loci including 45 specialized, polymorphic MHC class I loci, 41 C-type lectin-like loci, and other loci amid hundreds of transposable elements.
- Published in:
- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 11, p. 1, doi. 10.1093/g3journal/jkac218
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- Publication type:
- Article
Visualization of clonal expansion after massive depletion of cells carrying the bovine leukemia virus (BLV) integration sites during the course of disease progression in a BLV naturally-infected cow: a case report.
- Published in:
- Retrovirology, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12977-022-00609-0
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- Publication type:
- Article
No evidence of bovine leukemia virus proviral DNA and antibodies in human specimens from Japan.
- Published in:
- Retrovirology, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12977-022-00592-6
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- Publication type:
- Article
An Observational Study on Changes in the Oral and Gut Microbiota through Professional Mechanical Tooth Cleaning, including Tooth-Brushing Instructions in Patients with Multi-Bracket Appliances.
- Published in:
- Applied Sciences (2076-3417), 2023, v. 13, n. 19, p. 10843, doi. 10.3390/app131910843
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- Publication type:
- Article
Comprehensive Genetic Exploration of Fused Teeth by Whole Exome Sequencing.
- Published in:
- Applied Sciences (2076-3417), 2022, v. 12, n. 23, p. 11899, doi. 10.3390/app122311899
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- Publication type:
- Article
Exploring the Genetic Basis of Dens Evaginatus Using Whole-Exome Sequencing.
- Published in:
- Applied Sciences (2076-3417), 2022, v. 12, n. 18, p. 8962, doi. 10.3390/app12188962
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- Publication type:
- Article
Comprehensive Comparison of Novel Bovine Leukemia Virus (BLV) Integration Sites between B-Cell Lymphoma Lines BLSC-KU1 and BLSC-KU17 Using the Viral DNA Capture High-Throughput Sequencing Method.
- Published in:
- Viruses (1999-4915), 2022, v. 14, n. 5, p. 995, doi. 10.3390/v14050995
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- Publication type:
- Article
Whole-Genome Sequencing of a 900-Year-Old Human Skeleton Supports Two Past Migration Events from the Russian Far East to Northern Japan.
- Published in:
- Genome Biology & Evolution, 2021, v. 13, n. 9, p. 1, doi. 10.1093/gbe/evab192
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- Publication type:
- Article
High Order Formation and Evolution of Hornerin in Primates.
- Published in:
- Genome Biology & Evolution, 2018, v. 10, n. 12, p. 3167, doi. 10.1093/gbe/evy208
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- Publication type:
- Article
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00348-x
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- Publication type:
- Article
Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.
- Published in:
- 2017
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- Publication type:
- journal article
Primary analysis of DNA polymorphisms in the TRIM region ( MHC subregion) of the Japanese quail, Coturnix japonica.
- Published in:
- Animal Science Journal, 2013, v. 84, n. 1, p. 90, doi. 10.1111/j.1740-0929.2012.01062.x
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- Publication type:
- Article
Basic characterization of 90 kDa heat shock protein genes HSP90AA1, HSP90AB1, HSP90B1 and TRAP1 expressed in Japanese quail ( Coturnix japonica).
- Published in:
- Animal Science Journal, 2010, v. 81, n. 4, p. 513, doi. 10.1111/j.1740-0929.2010.00778.x
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- Publication type:
- Article
Identification of heat shock protein 70 genes HSPA2, HSPA5 and HSPA8 from the Japanese quail, Coturnix japonica.
- Published in:
- Animal Science Journal, 2008, v. 79, n. 2, p. 171, doi. 10.1111/j.1740-0929.2008.00514.x
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- Publication type:
- Article
Comparative genomics of the poultry major histocompatibility complex.
- Published in:
- Animal Science Journal, 2006, v. 77, n. 2, p. 151, doi. 10.1111/j.1740-0929.2006.00333.x
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- Publication type:
- Article
Identification of cDNA for the HSPA2, HSPA5 and HSPA8 orthologs of the heat shock protein 70 family from guinea fowl ( Numida meleagris).
- Published in:
- Animal Science Journal, 2005, v. 76, n. 5, p. 519, doi. 10.1111/j.1740-0929.2005.00299.x
- By:
- Publication type:
- Article
The ATF6β-calreticulin axis promotes neuronal survival under endoplasmic reticulum stress and excitotoxicity.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92529-w
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- Publication type:
- Article
Identification of candidate PAX2-regulated genes implicated in human kidney development.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88743-1
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- Publication type:
- Article
Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87094-1
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- Publication type:
- Article
MCPIP1 reduces HBV-RNA by targeting its epsilon structure.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77166-z
- By:
- Publication type:
- Article
Targeting cis-regulatory elements of FOXO family is a novel therapeutic strategy for induction of leukemia cell differentiation.
- Published in:
- Cell Death & Disease, 2023, v. 14, n. 9, p. 1, doi. 10.1038/s41419-023-06168-2
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- Publication type:
- Article
Germline Variants of Prostate Cancer in Japanese Families.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164233
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- Publication type:
- Article
Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30368
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- Publication type:
- Article