290 results on '"Fukumaki, Y."'
Search Results
2. Structure and polymorphisms of the human metabotropic glutamate receptor type 2 gene (GRM2): analysis of association with schizophrenia
3. Comprehensive behavioural study of GluR4 knockout mice: implication in cognitive function
4. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
5. Association study of polymorphisms in the glutamate receptor genes, GRM2 and GRIK1 with Japanese schizophrenia
6. Polymorphism analysis of the human dopamine receptor (DRD4) gene with Japanese schizophrenia patients
7. Polymorphism Analysis of the human striatum-enriched CalDAG-GEFI gene with Japanese schizophrenia patients
8. Nonhomologous recombination leading to duplication of the PLP gene in Pelizaeus-Merzbacher disease: analysis of the DNA rearrangement breakpoints
9. Characterization and evolutionary aspect of a Trimeresurus flavoviridis serum inhibitor, PLI-I, against its venom basic phospholipase A2 isozymes
10. Crohn's Disease Risk Alleles on the NOD2 Locus Have Been Maintained by Natural Selection on Standing Variation
11. P1.08 Clinical features and swallowing test in two very mild Fukuyama type congenital muscular dystrophy (FCMD)
12. G.P.9.10 A case of fibro-dysplasia ossificans progressiva with a novel mutation (G356D) of the activin receptor type 1 gene (ACVR1(ALK2))
13. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
14. The distribution of hereditary erythrocytic disorders associated with malaria, in a lowland area of Nepal: a micro-epidemiological study
15. Heat Shock Factor 2 Is Involved in the Upregulation of B-Crystallin by High Extracellular Potassium
16. Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene (DRD4) with schizophrenia and personality traits
17. Molecular analysis of α-thalassemia in Nepal: correlation with malaria endemicity
18. Position-independent human β-globin gene expression mediated by a recombinant adeno-associated virus vector carrying the chicken β-globin insulator
19. Differential decreases in c-fos and aldolase C mRNA expression in the rat cerebellum after repeated administration of methamphetamine
20. High Pressure Induces G2 Arrest in Murine Erythroleukemia Cells
21. Molecular Basis of β-Thalassemia in the Maldives
22. β-Thalassemia Mutations in Japanese and Koreans
23. Significance of alpha-1-antitrypsin mRNA expression in esophageal carcinoma
24. Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia
25. Accelerated evolution of snake venom phospholipase A2 isozymes to acquire diverse functions
26. A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame)
27. Accelerated evolution in the protein-coding regions is universal in crotalinae snake venom gland phospholipase A2 isozyme genes.
28. Role of Src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase.
29. Association of RNA with Human Papillomavirus E7 Protein of Type 16 But Not Type 6b
30. Establishment and characterization of an erythropoietin-dependent subline, UT-7/Epo, derived from human leukemia cell line, UT-7
31. Human Fetal-to-Adult Globin Gene Switching in Transgenic Mice: Persistent Expression of the Gγ-Globin Gene in the Japanese HPFH
32. Molecular basis of beta thalassemia in the south of thailand
33. Delta-thalassemia caused by disruption of the site for an erythroid- specific transcription factor, GATA-1, in the delta-globin gene promoter
34. A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
35. Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait
36. Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase.
37. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.
38. Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype [letter]
39. Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type
40. Sequences of Human Repetitive DNA, Non- -globin Genes, and Major Histocompatibility Locus Genes: I. Repeated-sequence DNA
41. Molecular analysis of Japanese delta beta-thalassemia
42. Structures of genes encoding phospholipase A~2 inhibitors from the serum of Trimeresurus flavoviridis snake
43. Structural elements of Trimeresurus flavoviridis serum inhibitors for recognition of its venom phospholipase A~2 isozymes
44. Secondary promoter of the guanine operon of Escherichia coli K-12
45. A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype
46. A delta-globin gene derived from patients with homozygous delta zero- thalassemia functions normally on transient expression in heterologous cells
47. A novel mutation in the TATA box in a Japanese patient with beta +- thalassemia
48. Accelerated evolution of crotalinae snake venom gland serine proteases
49. Accelerated evolution of Trimeresurus okinavensis venom gland phospholipase A~2 isozyme-encoding genes
50. A novel ochre mutation in the β-thalassemia gene of a Thai
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