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Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
- Published in:
- Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00354-1
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- Article
TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.
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- Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-019-0311-3
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- Article
Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0197350
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- Article
Physiological Characterization and Transcriptomic Properties of GnRH Neurons Derived From Human Stem Cells.
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- Endocrinology, 2021, v. 162, n. 9, p. 1, doi. 10.1210/endocr/bqab120
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- Article
NetWalker: a contextual network analysis tool for functional genomics.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 282, doi. 10.1186/1471-2164-13-282
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- Article
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2442, doi. 10.1093/hmg/ddv006
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- Article
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 22, p. 12809, doi. 10.1093/nar/gkac1134
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- Article
Oscillations of Spherical and Cylindrical Shells.
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- International Journal of Modern Physics B: Condensed Matter Physics; Statistical Physics; Applied Physics, 2001, v. 15, n. 23, p. 3099, doi. 10.1142/S021797920100721X
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- Article
Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.
- Published in:
- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0252048
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- Article
Function prediction from networks of local evolutionary similarity in protein structure.
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- BMC Bioinformatics, 2013, v. 14, n. S3, p. 1, doi. 10.1186/1471-2105-14-S3-S6
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- Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Article
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.55911
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- Article
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice.
- Published in:
- eLife, 2020, p. 1
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- Publication type:
- Article
Prediction of enzyme function based on 3D templates of evolutionarily important amino acids.
- Published in:
- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-17
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- Article
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23663-2
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- Article
Accurate Protein Structure Annotation through Competitive Diffusion of Enzymatic Functions over a Network of Local Evolutionary Similarities.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014286
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- Article
De-Orphaning the Structural Proteome through Reciprocal Comparison of Evolutionarily Important Structural Features.
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- PLoS ONE, 2008, v. 3, n. 5, p. 1, doi. 10.1371/journal.pone.0002136
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- Article
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
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- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007765
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- Article
Potential molecular consequences of transgene integration: The R6/2 mouse example.
- Published in:
- Scientific Reports, 2017, p. 41120, doi. 10.1038/srep41120
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- Article
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30968-3
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- Publication type:
- Article
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.
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- EMBO Journal, 2012, v. 31, n. 5, p. 1095, doi. 10.1038/emboj.2012.32
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- Article
Accounting for epistatic interactions improves the functional analysis of protein structures.
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- Bioinformatics, 2013, v. 29, n. 21, p. 2714, doi. 10.1093/bioinformatics/btt489
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- Article
ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape.
- Published in:
- Bioinformatics, 2012, v. 28, n. 16, p. 2186, doi. 10.1093/bioinformatics/bts331
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- Article
Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates.
- Published in:
- Bioinformatics, 2009, v. 25, n. 11, p. 1426, doi. 10.1093/bioinformatics/btp160
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- Publication type:
- Article
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1474, doi. 10.1093/hmg/ddy436
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- Article
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 190, doi. 10.1002/ajmg.a.61901
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- Article
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2478, doi. 10.1002/ajmg.a.38327
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- Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
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- Article
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
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- Article
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
- Published in:
- 2024
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- Correction Notice
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-023-51137-6
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- Article
Proteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
- Published in:
- Neuro-Oncology, 2023, v. 25, n. 9, p. 1617, doi. 10.1093/neuonc/noad037
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- Publication type:
- Article