Proteomics

Dataset Information

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Silveira_CYP26B1_BioID_P124_6600


ABSTRACT: Dataset description This dataset consists of 8 raw MS files and associated peak lists and results files, acquired on AB Sciex TripleTOF 6600 mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Ema Dreseris. BioID and Mass spectrometry acquisition was performed by Cassandra Wong. Analysis was performed by Cassandra Wong, Ema Dreseris, Anne-Claude Gingras and Eric Campos. The files are associated with a manuscript submitted for publication by Karina Silveria et al. The main goal of this paper was to investigate CYP26B1 pathogenic variants reported by two families. This dataset comprehensively maps the interactome of CYP26B1 and the associated pathogenic variants using proximity labeling and affinity purification. Peter Kannu is the corresponding author of the manuscript (kannu@ualberta.ca); Anne-Claude Gingras should be contacted for questions on this dataset (gingras@lunenfeld.ca) This submission is associated with 3 Supplementary Files (in addition to this README file) Table 1 describes the composition of this dataset Table 2 lists all the peptide identification evidence (as per iProphet) Table 3 lists the SAINTexpress interactions

INSTRUMENT(S): TripleTOF 6600

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Anne-Claude Gingras  

PROVIDER: MSV000091800 | MassIVE | Wed Apr 26 09:17:00 BST 2023

SECONDARY ACCESSION(S): PXD041830

REPOSITORIES: MassIVE

Dataset's files

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Publications


CYP26B1 metabolizes retinoic acid in the developing embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a severe manifestation involving skull anomalies, craniosynostosis, encephalocele, radio-humeral fusion, oligodactyly, and a narrow thorax, to a milder presentation characterized by craniosynostosis, restricted radio-humeral joint mobility, hearing loss, and intellectual disabil  ...[more]

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