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53
datasets available to search
ShareScore release 0.9.0
Dataset results
53 results for “loss-of-function mutation”
Characterization of a loss-of-function NAPB mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected iPSC lines. Author names and affiliations
<p>RNA-seq data of matured cortical neurons (8-weeks old) derived from induced pluripoent stem cells (iPSC). There are three replicates (Rep1, Rep2, Rep3) for each sample with Forwad read (R1_001.fastq.gz) and reverse read (R2_001.fastq.gz).</p> <p>CtrlF: Control Father sample</p> <p>CtrlM: Control mother sample</p> <p>NDD_01: Proband sample</p> <p>NDD_04: Proband sample</p> <p>NDD_05: Proband sample</p>
Data from: Loss-of-function mutations in the fruit softening gene POLYGALACTURONASE1 doubled fruit firmness in strawberry
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Fine mapping highlights ITGAL and MUS81 loss-of-function mutations modulating recessive impacts in dairy cattle
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Severe inbreeding, increased mutation load, and gene loss-of-function in the critically endangered Devil’s Hole pupfish
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Rescue of loss-of-function Long QT Syndrome-associated mutations in Kv7.1/KCNE1 by the endocannabinoid ARA-S
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Biallelic loss-of-function mutations in MAD1 result in systemic inflammation, clonal selection of aneuploid cells and high tumor susceptibility
GEO Series GSE197267. Homo sapiens. 5 samples. Type: Expression profiling by high throughput sequencing.
ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP
GEO Series GSE64078. Homo sapiens. 49 samples. Type: Expression profiling by high throughput sequencing.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann Syndrome with multi-locus imprinting disturbance
GEO Series GSE153211. Homo sapiens. 22 samples. Type: Methylation profiling by array.
Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia [WGBS]
GEO Series GSE263850. Homo sapiens. 6 samples. Type: Methylation profiling by high throughput sequencing.
Interpheron-γ signaling is associated with BRCA-1 loss-of-function mutations in high grade serous ovarian cancer [ChIP-seq]
GEO Series GSE131140. Homo sapiens. 6 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Whole genome expression analysis of a skin biopsy from an individual with multi-organ epithelial inflammation associated with an inherited loss-of-function mutation in EGFR
GEO Series GSE54162. Homo sapiens. 5 samples. Type: Expression profiling by array.
Loss-of-function due to MODY1/HNF4A mutation abrogates liver and pancreas differentiation from MODY1-hiPSCs
GEO Series GSE106335. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Gene expression profiling by bulk RNAseq from the livers of wild-type mice and those with loss-of-function mutations in URI 48 hours after partial hepatectomy
GEO Series GSE281923. Mus musculus. 8 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 [RNA-seq]
GEO Series GSE131085. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
TET2 loss-of-function mutations associate with a DNA hypermethylation signature in diffuse large B-cell lymphoma (DNA methylation)
GEO Series GSE37362. Homo sapiens. 31 samples. Type: Methylation profiling by genome tiling array.
Loss-of-function mutations in the histone methyltransferase EZH2 promote chemotherapy resistance in AML
GEO Series GSE162623. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Mice Harboring the Human SLC30A8 R138X Loss-of-Function Mutation Have Increased Insulin Secretory Capacity
GEO Series GSE114207. Mus musculus. 9 samples. Type: Expression profiling by high throughput sequencing.
Measuring the transcriptional effect of the Caulobacter cckA(ts) mutation and genetic suppression of the cckA(ts) phenotype by loss-of-function mutations in ntrC.
GEO Series GSE285684. Caulobacter vibrioides. 18 samples. Type: Expression profiling by high throughput sequencing.
Mechanistic basis for protection against fatty liver disease by CIDEB loss-of-function mutations
GEO Series GSE294945. Mus musculus. 20 samples. Type: Expression profiling by high throughput sequencing.
Loss-of-Function Mutations in Dnmt3a and Tet2 Lead to Accelerated Atherosclerosis and Concordant Macrophage Phenotypes
GEO Series GSE225773. Mus musculus. 11 samples. Type: Expression profiling by high throughput sequencing.
ScienceDex guides
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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.