Detalhe da pesquisa
1.
Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins.
Clin Genet;
105(2): 159-172, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37899590
2.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet;
60(7): 722-731, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36543533
3.
S-Palmitoylation of the serotonin transporter promotes its cell surface expression and serotonin uptake.
Biochem Biophys Res Commun;
662: 58-65, 2023 06 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37099811
4.
Twin research shows glycan changes are more susceptible to environmental factors than their carrier glycoproteins.
Glycoconj J;
40(2): 191-198, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36787035
5.
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Am J Med Genet A;
191(7): 1984-1989, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37141439
6.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
J Inherit Metab Dis;
46(4): 618-633, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37114839
7.
P2Y2 receptor mediates dying cell removal via inflammatory activated microglia.
J Pharmacol Sci;
153(1): 55-67, 2023 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37524455
8.
GPR3 accelerates neurite outgrowth and neuronal polarity formation via PI3 kinase-mediating signaling pathway in cultured primary neurons.
Mol Cell Neurosci;
118: 103691, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34871769
9.
GPR3 expression in retinal ganglion cells contributes to neuron survival and accelerates axonal regeneration after optic nerve crush in mice.
Neurobiol Dis;
172: 105811, 2022 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35809764
10.
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
J Hum Genet;
67(10): 595-599, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35760954
11.
Potential role of inducible GPR3 expression under stimulated T cell conditions.
J Pharmacol Sci;
148(3): 307-314, 2022 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35177210
12.
Effects of flurbiprofen on the functional regulation of serotonin transporter and its misfolded mutant.
J Pharmacol Sci;
148(1): 187-195, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34924125
13.
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.
Mol Ther;
29(2): 671-679, 2021 02 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33038326
14.
Assessment of Characteristics of Imaging Biomarkers for Quantifying Anterior Cingulate Cortex Changes: A Twin Study of Middle- to Advanced-Aged Populations in East Asia.
Medicina (Kaunas);
58(12)2022 Dec 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36557058
15.
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Curr Issues Mol Biol;
43(1): 389-404, 2021 Jun 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34205365
16.
Role of the E3 ubiquitin ligase HRD1 in the regulation of serotonin transporter function.
Biochem Biophys Res Commun;
534: 583-589, 2021 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33243462
17.
Structural dynamics of the chromo-shadow domain and chromodomain of HP1 bound to histone H3K9 methylated peptide, as measured by site-directed spin-labeling EPR spectroscopy.
Biochem Biophys Res Commun;
567: 42-48, 2021 08 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34139556
18.
Enhanced processivity of Dnmt1 by monoubiquitinated histone H3.
Genes Cells;
25(1): 22-32, 2020 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31680384
19.
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Mol Genet Metab;
133(3): 277-288, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34090759
20.
Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy.
Nephrol Dial Transplant;
37(1): 53-62, 2021 12 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33367839