Detalhe da pesquisa
1.
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Brief Bioinform;
25(2)2024 Jan 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38271481
2.
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Int J Mol Sci;
24(24)2023 Dec 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38139401
3.
Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study.
Int J Mol Sci;
24(24)2023 Dec 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38139235
4.
Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
BMC Genomics;
23(1): 155, 2022 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35193511
5.
Structure and Polymorphism of Amyloid and Amyloid-Like Aggregates.
Biochemistry (Mosc);
87(5): 450-463, 2022 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35790379
6.
Direct proof of the amyloid nature of yeast prions [PSI+] and [PIN+] by the method of immunoprecipitation of native fibrils.
FEMS Yeast Res;
21(6)2021 09 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34463335
7.
Quantitative assessment of chaperone binding to amyloid aggregates identifies specificity of Hsp40 interaction with yeast prion fibrils.
FEMS Yeast Res;
20(4)2020 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32379306
8.
A Data-Driven Review of the Genetic Factors of Pregnancy Complications.
Int J Mol Sci;
21(9)2020 May 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32403311
9.
To CURe or not to CURe? Differential effects of the chaperone sorting factor Cur1 on yeast prions are mediated by the chaperone Sis1.
Mol Microbiol;
105(2): 242-257, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28431189
10.
Differential effects of chaperones on yeast prions: CURrent view.
Curr Genet;
64(2): 317-325, 2018 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28932898
11.
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.
Genet Med;
20(3): 360-364, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29155419
12.
SFP1-mediated prion-dependent lethality is caused by increased Sup35 aggregation and alleviated by Sis1.
Genes Cells;
21(12): 1290-1308, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27734597
13.
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
Physiol Rep;
12(8): e16015, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38653581
14.
Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders.
Genes (Basel);
14(3)2023 03 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36981026
15.
bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
Biology (Basel);
13(1)2023 Dec 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38248441
16.
Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases.
Genes (Basel);
14(11)2023 Nov 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38003043
17.
Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
Genes (Basel);
15(1)2023 Dec 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38254935
18.
Differential Interactions of Molecular Chaperones and Yeast Prions.
J Fungi (Basel);
8(2)2022 Jan 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35205876
19.
Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives.
Genes (Basel);
13(7)2022 06 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35885959
20.
Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [PSI+] Cells.
Biology (Basel);
11(12)2022 Nov 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36552198