PXD010814-1

PXD010814 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Proteomic Manifestations of Genetic Defects in Autosomal Recessive Congenital Ichthyosis
Description	Numerous genetic conditions give rise to a scaly skin phenotype as a result of impaired barrier function. Differences in appearance suggest the response of epidermal cells depends upon the basic defect. The present work characterizes the departure of afflicted corneocytes from normal as judged by their proteomic profiles in three types of autosomal recessive congenital ichthyosis arising from defects in the genes PNPLA1, SDR9C7 and TGM1. The results show that the profiles were distinctive, each displaying a set of altered protein levels, but with a subset of common alterations. Departure from the normal profile was examined at three different anatomic sites (forearm, forehead, leg). Reflecting that the normal protein profile differed at these sites, comparing profiles from afflicted subjects revealed that the alterations in profile were site-dependent. These results suggest proteomic profiling can provide a quantitative measure of departure from the normal state of epidermis. Further development may find application to diagnosis, including identification of new genetic defects, and may help understand signaling pathways perturbed by the basic defects, supplementing visual evaluation of treatment.
HostingRepository	MassIVE
AnnounceDate	2019-05-26
AnnouncementXML	Submission_2019-05-26_12:48:54.xml
DigitalObjectIdentifier
ReviewLevel	Non peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Brett Phinney
SpeciesList	scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606;
ModificationList	Deamidated; Oxidation; Carbamidomethyl
Instrument	Q Exactive

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2018-08-17 17:12:05	ID requested
⏵ 1	2019-05-26 12:48:54	announced

Publication List

no publication

no publication

Keyword List

submitter keyword: skin

submitter keyword: skin

Contact List

Robert H. Rice
contact affiliation	UC Davis
contact email	rhrice@ucdavis.edu
lab head
Brett Phinney
contact affiliation	UC Davis
contact email	brettsp@ucdavis.edu
dataset submitter

Full Dataset Link List

MassIVE dataset URI
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MassIVE dataset URI

Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://massive.ucsd.edu/MSV000082828