Detalles de la búsqueda
1.
jMorp: Japanese Multi-Omics Reference Panel update report 2023.
Nucleic Acids Res
; 52(D1): D622-D632, 2024 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37930845
2.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Am J Hum Genet
; 109(8): 1366-1387, 2022 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35931049
3.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
J Hum Genet
; 69(5): 177-183, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38351237
4.
A fine-scale genetic map of the Japanese population.
Clin Genet
; 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38719617
5.
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.
Mol Psychiatry
; 28(10): 4294-4306, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37248276
6.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Am J Med Genet A
; : e63656, 2024 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38760879
7.
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Tohoku J Exp Med
; 262(4): 239-244, 2024 Apr 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38267061
8.
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
J Bone Miner Metab
; 41(2): 193-202, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36520195
9.
jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population.
Nucleic Acids Res
; 49(D1): D536-D544, 2021 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33179747
10.
Involvement of the Restoration of Cerebral Blood Flow and Maintenance of eNOS Expression in the Prophylactic Protective Effect of the Novel Ferulic Acid Derivative FAD012 against Ischemia/Reperfusion Injuries in Rats.
Int J Mol Sci
; 24(11)2023 Jun 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37298615
11.
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Am J Med Genet A
; 188(4): 1293-1298, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34971077
12.
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Tohoku J Exp Med
; 256(4): 321-326, 2022 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35321980
13.
Statistical image processing quantifies the changes in cytoplasmic texture associated with aging in Caenorhabditis elegans oocytes.
BMC Bioinformatics
; 22(1): 73, 2021 Feb 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-33596821
14.
Characterization of 6-bromoferulic acid as a novel common-use matrix for matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Rapid Commun Mass Spectrom
; 34(7): e8636, 2020 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31659809
15.
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
J Hum Genet
; 69(5): 185, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38548934
16.
Potent HIV-1 protease inhibitors incorporating squaramide-derived P2 ligands: Design, synthesis, and biological evaluation.
Bioorg Med Chem Lett
; 29(18): 2565-2570, 2019 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31416666
17.
Design of novel HIV-1 protease inhibitors incorporating isophthalamide-derived P2-P3 ligands: Synthesis, biological evaluation and X-ray structural studies of inhibitor-HIV-1 protease complex.
Bioorg Med Chem
; 25(19): 5114-5127, 2017 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28434781
18.
Systematic evaluation of methyl ester bioisosteres in the context of developing alkenyldiarylmethanes (ADAMs) as non-nucleoside reverse transcriptase inhibitors (NNRTIs) for anti-HIV-1 chemotherapy.
Bioorg Med Chem
; 24(13): 3006-3022, 2016 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27234889
19.
Improving spinning disk confocal microscopy by preventing pinhole cross-talk for intravital imaging.
Proc Natl Acad Sci U S A
; 110(9): 3399-404, 2013 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401517
20.
Structure-based design, synthesis, X-ray studies, and biological evaluation of novel HIV-1 protease inhibitors containing isophthalamide-derived P2-ligands.
Bioorg Med Chem Lett
; 25(21): 4903-4909, 2015 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26096678