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64 results for “PAM”
Virus-derived siRNA mediated inhibition of PRRSV replication in pigs [PAM]
GEO Series GSE308671. Sus scrofa. 3 samples. Type: Non-coding RNA profiling by high throughput sequencing.
Dataset related to article "Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion"
<p>This record contains raw data related to article "Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion"</p> <p><strong>Abstract</strong></p> <p>Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures.</p> <p>Following the identification of a loss-of-function variant (p.Arg703Gln) in the <em>PAM </em>gene in a family with pituitary gigantism, we investigated 299 individuals with sporadic PAs and 17 familial isolated pituitary adenomas kindreds for <em>PAM </em>variants. <em>PAM </em>encodes a multifunctional protein responsible for the essential C-terminal amidation of secreted peptides.</p> <p>Genetic screening was performed by germline and tumor sequencing and germline copy number variation (CNV) analysis. No germline CNVs or somatic single nucleotide variants (SNVs) were identified. We detected seven likely pathogenic heterozygous missense, truncating, and regulatory SNVs. These SNVs were found in sporadic subjects with GH excess (p.Gly552Arg and p.Phe759Ser), pediatric Cushing disease (c.-133T>C and p.His778fs), or with different types of PAs (c.-361G>A, p.Ser539Trp, and p.Asp563Gly). The SNVs were functionally tested <em>in vitro </em>for protein expression and trafficking by Western blotting, for splicing by minigene assays, and for amidation activity in cell lysates and serum samples. These analyses confirmed a deleterious effect on protein expression and/or function. By interrogating 200,000 exomes from the UK Biobank, we confirmed a significant association of the <em>PAM</em> gene and rare <em>PAM </em>SNVs to diagnoses linked to pituitary gland hyperfunction.</p> <p>Identification of <em>PAM </em>as a candidate gene associated with pituitary hypersecretion opens the possibility of developing novel therapeutics based on altering PAM function.</p>
Cas12a variants designed for lower genome-wide off-target effect through stringent PAM recognition
GEO Series GSE185486. Homo sapiens. 38 samples. Type: Other.
Dataset PAM PAN PI
<p>Dataset de hoja madura, hoja nueva e inflorescencia de acuyo</p>
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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)
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.