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Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1400989
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- Publication type:
- Article
Diversity of the expression profiles of late embryogenesis abundant (LEA) protein encoding genes in the anhydrobiotic midge Polypedilum vanderplanki.
- Published in:
- Planta: An International Journal of Plant Biology, 2015, v. 242, n. 2, p. 451, doi. 10.1007/s00425-015-2284-6
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- Publication type:
- Article
β-elimination of hyaluronate by red king crab hyaluronidase.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01890-3
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- Publication type:
- Article
Cas9-mediated genome editing reveals a significant contribution of calcium signaling pathways to anhydrobiosis in Pv11 cells.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98905-w
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- Publication type:
- Article
Genome-Wide Role of HSF1 in Transcriptional Regulation of Desiccation Tolerance in the Anhydrobiotic Cell Line, Pv11.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5798, doi. 10.3390/ijms22115798
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- Publication type:
- Article
PMCs and the water frost point in the Arctic summer mesosphere.
- Published in:
- Geophysical Research Letters, 2001, v. 28, n. 23, p. 4449, doi. 10.1029/2001GL013598
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- Publication type:
- Article
Integrative transcription start site analysis and physiological phenotyping reveal torpor-specific expression program in mouse skeletal muscle.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02819-2
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- Publication type:
- Article
High Triglycerides Are Associated with Low Thrombocyte Counts and High VEGF in Nephropathia Epidemica.
- Published in:
- 2016
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- Publication type:
- journal article
Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1400989
- By:
- Publication type:
- Article
Systematic analysis of transcription start sites in avian development.
- Published in:
- PLoS Biology, 2017, v. 15, n. 9, p. 1, doi. 10.1371/journal.pbio.2002887
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- Publication type:
- Article
Redox induced reactions of transition metal Ï- and Ï,Ï-complexes.
- Published in:
- Journal of Solid State Electrochemistry, 2007, v. 11, n. 12, p. 1621, doi. 10.1007/s10008-007-0322-4
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- Publication type:
- Article
Biomimetic Cardiac Tissue Models for In Vitro Arrhythmia Studies.
- Published in:
- Biomimetics (2313-7673), 2023, v. 8, n. 6, p. 487, doi. 10.3390/biomimetics8060487
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- Publication type:
- Article
Acute transcriptional up-regulation specific to osteoblasts/osteoclasts in medaka fish immediately after exposure to microgravity.
- Published in:
- Scientific Reports, 2016, p. 39545, doi. 10.1038/srep39545
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- Publication type:
- Article
The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46030-3
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- Publication type:
- Article
Gene Expression Profiling of H9c2 Myoblast Differentiation towards a Cardiac-Like Phenotype.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129303
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- Publication type:
- Article
Anhydrobiosis-Associated Nuclear DNA Damage and Repair in the Sleeping Chironomid: Linkage with Radioresistance.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014008
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- Publication type:
- Article
A new anhydrobiotic midge from Malawi, Polypedilum pembai sp.n. (Diptera: Chironomidae), closely related to the desiccation tolerant midge, Polypedilum vanderplanki Hinton.
- Published in:
- Systematic Entomology, 2017, v. 42, n. 4, p. 814, doi. 10.1111/syen.12248
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- Publication type:
- Article
Genome-wide expression analysis of reactive oxygen species gene network in Mizuna plants grown in long-term spaceflight.
- Published in:
- BMC Plant Biology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2229-14-4
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- Publication type:
- Article
Development of a Tet-On Inducible Expression System for the Anhydrobiotic Cell Line, Pv11.
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- Insects (2075-4450), 2020, v. 11, n. 11, p. 781, doi. 10.3390/insects11110781
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- Publication type:
- Article
Diversity and Regulation of S-Adenosylmethionine Dependent Methyltransferases in the Anhydrobiotic Midge.
- Published in:
- Insects (2075-4450), 2020, v. 11, n. 9, p. 634, doi. 10.3390/insects11090634
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- Publication type:
- Article
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
- Published in:
- Cancers, 2024, v. 16, n. 1, p. 85, doi. 10.3390/cancers16010085
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- Publication type:
- Article
Finite difference methods for 2D shallow water equations with dispersion.
- Published in:
- Russian Journal of Numerical Analysis & Mathematical Modelling, 2019, v. 34, n. 2, p. 105, doi. 10.1515/rnam-2019-0009
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- Publication type:
- Article
Simulation of tsunami waves generated by submarine landslides in the Black Sea.
- Published in:
- Russian Journal of Numerical Analysis & Mathematical Modelling, 2015, v. 30, n. 4, p. 227, doi. 10.1515/rnam-2015-0020
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- Publication type:
- Article
Correction: Genetic algorithm-based personalized models of human cardiac action potential.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, p. 1, doi. 10.3389/fncel.2017.00263
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- Publication type:
- Article
ETV2 induces endothelial, but not hematopoietic, lineage specification in birds.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 6, p. 1, doi. 10.26508/lsa.202402694
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- Publication type:
- Article
Population Genomics of Two Closely Related Anhydrobiotic Midges Reveals Differences in Adaptation to Extreme Desiccation.
- Published in:
- Genome Biology & Evolution, 2023, v. 15, n. 10, p. 1, doi. 10.1093/gbe/evad169
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- Publication type:
- Article
Genetic algorithm-based personalized models of human cardiac action potential.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0231695
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- Publication type:
- Article
Identification of a master transcription factor and a regulatory mechanism for desiccation tolerance in the anhydrobiotic cell line Pv11.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230218
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- Publication type:
- Article
Correction: Iron metabolic pathways in the processes of sponge plasticity.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Iron metabolic pathways in the processes of sponge plasticity.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228722
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- Publication type:
- Article
Desiccation Tolerant Pv11 Cells Maintain Organelle Organization During Drying and Rehydration.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.01697
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- Publication type:
- Article
Comparative genome sequencing reveals genomic signature of extreme desiccation tolerance in the anhydrobiotic midge.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4784, doi. 10.1038/ncomms5784
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- Publication type:
- Article
Dosage compensation of Z sex chromosome genes in avian fibroblast cells.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-03055-z
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- Publication type:
- Article
Alternative transcription start sites contribute to acute-stress-induced transcriptome response in human skeletal muscle.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00399-8
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- Publication type:
- Article
Oxidative Stress and Antioxidant Capacity in Barley Grown under Space Environment.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2010, v. 74, n. 7, p. 1479, doi. 10.1271/bbb.100139
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- Publication type:
- Article
Formation of erbium-oxygen nanoclusters in erbium-doped oxidized amorphous silicon.
- Published in:
- Physica Status Solidi (B), 2005, v. 242, n. 10, p. R82, doi. 10.1002/pssb.200541021
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- Publication type:
- Article
New group of transmembrane proteins associated with desiccation tolerance in the anhydrobiotic midge Polypedilum vanderplanki.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68330-6
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- Publication type:
- Article
Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 10, p. N.PAG, doi. 10.3390/biology11101461
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- Publication type:
- Article
Intracellular Localization and Gene Expression Analysis Provides New Insights on LEA Proteins' Diversity in Anhydrobiotic Cell Line.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 4, p. 487, doi. 10.3390/biology11040487
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- Publication type:
- Article
Life-On-Hold: Lanthanoids Rapidly Induce a Reversible Ametabolic State in Mammalian Cells.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 7, p. 607, doi. 10.3390/biology10070607
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- Publication type:
- Article
Genome-Wide Atlas of Promoter Expression Reveals Contribution of Transcribed Regulatory Elements to Genetic Control of Disuse-Mediated Atrophy of Skeletal Muscle.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 6, p. 557, doi. 10.3390/biology10060557
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- Publication type:
- Article
Bioinformatic Study of Transcriptome Changes in the Mice Lumbar Spinal Cord After the 30-Day Spaceflight and Subsequent 7-Day Readaptation on Earth: New Insights Into Molecular Mechanisms of the Hypogravity Motor Syndrome.
- Published in:
- Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.00747
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- Publication type:
- Article
The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
- Published in:
- Frontiers in Oncology, 2018, p. 1, doi. 10.3389/fonc.2018.00421
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- Publication type:
- Article
Serum Cytokine Profiles Differentiating Hemorrhagic Fever with Renal Syndrome and Hantavirus Pulmonary Syndrome.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00567
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- Publication type:
- Article
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00821-x
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- Publication type:
- Article
Genetic background of enhanced radioresistance in an anhydrobiotic insect: transcriptional response to ionizing radiations and desiccation.
- Published in:
- Extremophiles, 2017, v. 21, n. 1, p. 109, doi. 10.1007/s00792-016-0888-9
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- Publication type:
- Article
Establishment of gene transfer and gene silencing methods in a desiccation-tolerant cell line, Pv11.
- Published in:
- Extremophiles, 2017, v. 21, n. 1, p. 65, doi. 10.1007/s00792-016-0880-4
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- Publication type:
- Article
The recognition of three novel HLA‐A alleles: HLA‐A*02:1041Q, ‐A*02:1042, and ‐A*02:1043.
- Published in:
- HLA: Immune Response Genetics, 2024, v. 103, n. 2, p. 1, doi. 10.1111/tan.15352
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- Publication type:
- Article
Discovery of the novel HLA‐A*33:256 allele, a variant of HLA‐A*33:03:01:01, by next‐generation sequencing.
- Published in:
- HLA: Immune Response Genetics, 2024, v. 103, n. 1, p. 1, doi. 10.1111/tan.15335
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- Publication type:
- Article