555 results on '"Hosomichi, Kazuyoshi"'
Search Results
2. Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role
3. Minor GPI(-) granulocyte populations in aplastic anemia and healthy individuals derived from a few PIGA-mutated hematopoietic stem progenitor cells
4. Deficiency of the splicing factor RBM10 limits EGFR inhibitor response in EGFR mutant lung cancer
5. HLA allelic diversity in the Waorani population of Ecuador: Its significance to their ancestry and migration
6. Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants
7. Super-enhancer trapping by the nuclear pore via intrinsically disordered regions of proteins in squamous cell carcinoma cells
8. Targeting cis-regulatory elements of FOXO family is a novel therapeutic strategy for induction of leukemia cell differentiation
9. Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function
10. Nutrigenetic Interaction Between Apolipoprotein C3 Polymorphism and Fat Intake in People with Nonalcoholic Fatty Liver Disease
11. The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants
12. Identification of Candidate Genes of Familial Multiple Idiopathic Cervical Root Resorption
13. AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
14. 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
15. No evidence of bovine leukemia virus proviral DNA and antibodies in human specimens from Japan
16. Biased expression of mutant alleles in cancer-related genes in esophageal squamous cell carcinoma
17. Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method
18. Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia
19. Allelic and haplotypic HLA diversity in indigenous Malaysian populations explored using Next Generation Sequencing
20. Analysis of HLA gene polymorphisms in East Africans reveals evidence of gene flow in two Semitic populations from Sudan
21. Characterization of LILRB3 and LILRA6 allelic variants in the Japanese population
22. Somatic mutations in oral squamous cell carcinomas in 98 Japanese patients and their clinical implications
23. HLA-B*39:01:01 is a novel risk factor for antithyroid drug-induced agranulocytosis in Japanese population
24. Identification of candidate PAX2-regulated genes implicated in human kidney development
25. Molecular features of tumor-derived genetic alterations in circulating cell-free DNA in virtue of autopsy analysis
26. The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
27. The ATF6β-calreticulin axis promotes neuronal survival under endoplasmic reticulum stress and excitotoxicity
28. A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia
29. Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients
30. 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
31. {In vitro} DNA methylome and transcriptome analysis in human alveolar epithelial cells after long-term exposure of diesel exhaust particles
32. Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease
33. Familial immune‐mediated aplastic anaemia in six different families
34. Postnatal expression of CD38 in astrocytes regulates synapse formation and adult social memory
35. Immune-Mediated Hematopoietic Failure after Allogeneic Hematopoietic Stem Cell Transplantation: A Common Cause of Late Graft Failure in Patients with Complete Donor Chimerism
36. MCPIP1 reduces HBV-RNA by targeting its epsilon structure
37. Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population
38. RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase I Antibody-Positive Systemic Sclerosis
39. Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report
40. Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia
41. Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese
42. No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY
43. Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung’s disease
44. Comprehensive Genetic Exploration of Fused Teeth by Whole Exome Sequencing
45. Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
46. Primary failure of tooth eruption: Etiology and management
47. New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
48. Isolation of ferret astrocytes reveals their morphological, transcriptional, and functional differences from mouse astrocytes
49. AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells
50. Exploring the Genetic Basis of Dens Evaginatus Using Whole-Exome Sequencing
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