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53
datasets available to search
ShareScore release 0.9.0
Dataset results
53 results for “loss-of-function mutation”
GCGR Loss-of-Function Mutations Promote Amino Acid-Dependent Pancreatic Neuroendocrine Tumor Initiation from a Subpopulation of Alpha Cells [single-cell RNA-seq]
GEO Series GSE142233. Mus musculus. 5 samples. Type: Expression profiling by high throughput sequencing.
WWOX P47T loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration
GEO Series GSE215425. Mus musculus. 37 samples. Type: Expression profiling by high throughput sequencing.
A Phase I Trial of Combination Gemcitabine and Nab-Sirolimus in Advanced Leiomyosarcomas or Advanced Soft-Tissue Sarcomas With TSC2 or TSC1 Loss-of-function Mutations or Deletions
ClinicalTrials.gov study NCT06308419. IPD Sharing: Not stated. Countries: 1. Publications: 0.
An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes
ClinicalTrials.gov study NCT03621007. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia [RNA-seq]
GEO Series GSE263847. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
ALS/FTD-linked mutation in FUS suppresses intra-axonal protein synthesis and drives disease without nuclear loss-of-function of FUS
GEO Series GSE120247. Mus musculus. 14 samples. Type: Expression profiling by high throughput sequencing.
Loss-of-function mutations in the melanocortin-2-receptor (mc2r) lead to skin hyperpigmentation in teleost fish
GEO Series GSE292242. Danio rerio. 6 samples. Type: Expression profiling by high throughput sequencing.
Human CD8 T cell transcriptomic analysis from the three male siblings of similar ages with DJ-1 loss-of-function or heterozygous mutations
GEO Series GSE173903. Homo sapiens. 3 samples. Type: Expression profiling by array.
DNAseq analysis of a genome-wide loss-of-function CRISPR/Cas9 library in haploid human embryonic stem cells transfected with a methylated construct containing the FXS-related mutation upstream to an E
GEO Series GSE182551. Homo sapiens. 27 samples. Type: Other.
Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia [ChIP-seq]
GEO Series GSE263845. Homo sapiens. 10 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Suppression of inositol pyrophosphate toxicosis and hyper-repression of the fission yeast PHO regulon by loss-of-function mutations in chromatin remodelers Snf22 and Sol1
GEO Series GSE245138. Schizosaccharomyces pombe. 9 samples. Type: Expression profiling by high throughput sequencing.
Interpheron-γ signaling is associated with BRCA-1 loss-of-function mutations in high grade serous ovarian cancer
GEO Series GSE131142. Homo sapiens. 14 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
TET2 loss-of-function mutations associate with a DNA hypermethylation signature in diffuse large B-cell lymphoma
GEO Series GSE37365. Homo sapiens. 40 samples. Type: Expression profiling by array; Methylation profiling by genome tiling array.
TET2 loss-of-function mutations associate with a DNA hypermethylation signature in diffuse large B-cell lymphoma (mRNA)
GEO Series GSE37363. Homo sapiens. 9 samples. Type: Expression profiling by array.
Loss-of-function mutations in REP-1 affect intracellular vesicle transport in fibroblasts and monocytes of CHM patients
GEO Series GSE17549. Homo sapiens. 15 samples. Type: Expression profiling by array.
Loss-of-function ROX1 mutations suppress the fluconazole susceptibility of upc2A∆ mutation in Candida glabrata, implicating additional positive regulators of ergosterol biosynthesis
GEO Series GSE191145. Nakaseomyces glabratus. 25 samples. Type: Expression profiling by high throughput sequencing.
GCGR Loss-of-Function Mutations Promote Amino Acid-Dependent Pancreatic Neuroendocrine Tumor Initiation from a Subpopulation of Alpha Cells
GEO Series GSE142234. Mus musculus. 45 samples. Type: Expression profiling by high throughput sequencing; Other.
Impact of homozygous loss-of-function mutations in the LARP7 gene on the pA+ transcriptome of a B-lymphoblastoid cell line (B-LCL)
GEO Series GSE134811. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
GCGR Loss-of-Function Mutations Promote Amino Acid-Dependent Pancreatic Neuroendocrine Tumor Initiation from a Subpopulation of Alpha Cells [bulk RNA-seq]
GEO Series GSE142232. Mus musculus. 23 samples. Type: Expression profiling by high throughput sequencing.
GCGR Loss-of-Function Mutations Promote Amino Acid-Dependent Pancreatic Neuroendocrine Tumor Initiation from a Subpopulation of Alpha Cells [exome-seq]
GEO Series GSE142231. Mus musculus. 17 samples. Type: Other.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
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.