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129 results for “Gain-of-Function”
Data files for manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2"
<p>#2022-02-21<br> #Summary<br> This ZIP-file contains the data files used for all analyses for the manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2".</p> <p><br> #File structure<br> README.txt This README file.<br> File S02 ("FileS02_NSD2-clinical-information-and-variants.xlsx") Clinical data of GoF and LoF inidviduals used for Table 1 and Table 2 and genetic variant data used for Figure 2.<br> File S03 ("FileS03_NSD2-CCLE-analyses.xlsx") Tables containing information of the CCLE analyses and depmap results used for Figure 3A-D.<br> File S04 ("FileS04_humanbase_global_1642958821189.tar.gz") Tar.gz file of the downlaoded humanbase result files used for Figure 3E.</p> <p><br> #Files and checksums<br> 5FE613FC7646419C20153068E8D5F463 ./FileS02_NSD2-clinical-information-and-variants.xlsx<br> AC53634E6044469BE42DBBE8F7503275 ./FileS03_NSD2-CCLE-analyses.xlsx<br> 7AE58A28A4D1E1462521A37522BB78B6 ./FileS04_humanbase_global_1642958821189.tar.gz</p>
Complete allele-specific silencing of the gain-of-function mutation of Huntington's disease
<p>Dominant gain-of-function mechanism in Huntington's disease (HD) suggests selective inactivation of mutant <em>HTT</em> produces the biggest therapeutic benefit. Here, we developed a complete allele-specific CRISPR/Cas9 strategy to permanently silence mutant <em>HTT</em> through nonsense-mediated decay (NMD), capitalizing on an exonic PAM (protospacer adjacent motif)-Altering SNP (PAS). Comprehensive sequence/haplotype analysis identified PAS-generated NGG PAM sites on exons of common <em>HTT </em>haplotypes in HD patients, revealing a single clinically meaningful PAS-based mutant-specific NMD-CRISPR/Cas9 strategy. The alternative allele of rs363099 eliminates NGG PAM site on the most frequent normal <em>HTT </em>haplotype in HD, permitting mutant <em>HTT-</em>specific CRISPR/Cas9 therapeutics in ~20% of HD patients with European ancestry. Our rs363099-based CRISPR/Cas9 showed perfect allele specificity and good targeting efficiencies in cells derived from HD patients. Dramatically reduced mutant <em>HTT </em>mRNA and complete loss of mutant HTT protein indicate that our allele-specific CRISPR/Cas9 strategy completely inactivates mutant <em>HTT </em>through NMD. RNAseq analysis also supported high levels of on-target gene specificity because no other genes except <em>HTT </em>were altered in clonal lines developed through our NMD-CRISPR/Cas9 strategy. Together, our data demonstrating significant target population, selective inactivation of mutant <em>HTT</em>, good targeting efficiency, and lack of recurrent off-targeting establish its therapeutic value of novel rs363099-based mutant <em>HTT-</em>specific NMD-CRISPR/Cas9 strategy in HD.</p>
A Study of Alirocumab in Participants With Autosomal Dominant Hypercholesterolemia (ADH) and Gain-of-Function Mutations (GOFm) of the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) Gene or Loss-of-F
ClinicalTrials.gov study NCT01604824. IPD Sharing: Not stated. Countries: 2. Publications: 2.
Complete allele-specific silencing of the gain-of-function mutation of Huntington's disease
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Safety and Tolerability of Lacosamide in Patients With Gain-of-function Nav1.7 Mutations Related Small Fiber Neuropathy
ClinicalTrials.gov study NCT01911975. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Data from: A gain-of-function polymorphism controlling complex traits and fitness in nature
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Data from: Gain-of-function experiments in bacteriophage lambda uncover residues under diversifying selection in nature
Viral gain-of-function mutations frequently evolve during laboratory experiments. Whether the specific mutations that evolve in the lab also evolve in nature and whether they have the same impact on evolution in the real world is unknown. We studied a model virus, bacteriophage λ, that repeatedly evolves to exploit a new host receptor under typical laboratory conditions. Here we demonstrate that two residues of λ's J protein are required for the new function. In natural λ variants, these amino acid sites are highly diverse and evolve at high rates. Insertions and deletions at these locations are associated with phylogenetic patterns indicative of ecological diversification. Our results show that viral evolution in the laboratory mirrors that in nature and that laboratory experiments can be coupled with protein sequence analyses to identify the causes of viral evolution in the real world. Furthermore, our results provide evidence for widespread host-shift evolution in lambdoid viruses.
Data from: Gain-of-function experiments in bacteriophage lambda uncover residues under diversifying selection in nature
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Transcriptional profiling of STAT1 gain-of-function reveals common and mutation-specific fingerprints
GEO Series GSE166392. Homo sapiens. 70 samples. Type: Expression profiling by high throughput sequencing.
Effect of the gain-of-function mutation of CXCR4 on the molecular identity of murine Skeletal Stromal/Stem Cells (SSC) and OsteoProgenitor Cells (OPC)
GEO Series GSE217422. Mus musculus. 17 samples. Type: Expression profiling by high throughput sequencing.
A gain-of-function p53 mutant synergizes with oncogenic Nras to promote acute myeloid leukemia in mice
GEO Series GSE243642. Mus musculus. 13 samples. Type: Expression profiling by high throughput sequencing.
Sex-specific roles of PKLR in NAFLD using gain-of-function mouse models
GEO Series GSE157201. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
The CD33 short isoform is a gain-of-function variant that enhances Aß1-42 phagocytosis in microglia
GEO Series GSE172528. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
TMPRSS2-ERG and gain-of-function p53 mutants co-dictate pyrimidine synthesis and prostate cancer fitness [ERG and p53 ChIP-seq]
GEO Series GSE184623. Homo sapiens. 5 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Differential gain-of-function activity of three p53 hotspot mutants in vivo
GEO Series GSE198802. Mus musculus. 20 samples. Type: Expression profiling by high throughput sequencing.
Gain-of-function genetic alterations of G9a drive oncogenesis I
GEO Series GSE147419. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Only the loss-of-function but not the gain-of-function properties of mutant TP53 are critical for the sustained proliferation, survival and metastasis of a broad range of cancer cells
GEO Series GSE181016. Homo sapiens. 18 samples. Type: Expression profiling by high throughput sequencing.
Roles of PKLR in NAFLD using loss- and gain-of-function mouse models
GEO Series GSE151182. Mus musculus. 20 samples. Type: Expression profiling by high throughput sequencing.
A Gain-of-Function Genomic Screen Identifies the Orphan Nuclear Receptor TLX as an Enhancer of STAT1-mediated Transcription and Immunity to Toxoplasma gondii: TLX overexpression
GEO Series GSE55749. Homo sapiens. 8 samples. Type: Expression profiling by array.
Gain-of-function Variants in SMAD4 compromise Respiratory Epithelial cells
GEO Series GSE270668. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.