PXD006268 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient. |
Description | Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder caused by loss-of-function mutations in the gene CMG2. Patients develop subcutaneous nodules and painful joint contracture. CMG2 is a transmembrane protein of poorly understood physiological function. To understand better the pathogenesis of HFS and the role of CMG2 in this disease, we compared by mass-spectrometry the composition of nodular and matching non-nodular tissues. Two tissue pairs were analyzed, both obtained after surgical resection of nodules from a HFS patient. Our shotgun proteomics analysis showed that nodules were enriched in serum protein, which correlated with previous descriptions of blood vessel leakage in these tissues. Importantly, we also observed a clear accumulation of collagen VI in nodules. Collagen VI accumulation was caused by CMG2 loss-of-function and is the main cause of the nodule formation. |
HostingRepository | PRIDE |
AnnounceDate | 2017-07-07 |
AnnouncementXML | Submission_2017-07-07_06:17:48.xml |
DigitalObjectIdentifier | https://dx.doi.org/10.6019/PXD006268 |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Supported dataset by repository |
PrimarySubmitter | Jérôme Bürgi |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | Ammonia-loss; Phospho; Dehydrated; Oxidation; Acetyl; Carbamidomethyl |
Instrument | Q Exactive |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2017-04-06 01:48:51 | ID requested | |
⏵ 1 | 2017-07-07 06:17:50 | announced | |
Publication List
B, ü, rgi J, Kunz B, Abrami L, Deuquet J, Piersigilli A, Scholl-B, ü, rgi S, Lausch E, Unger S, Superti-Furga A, Bonaldo P, van der Goot FG, CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun, 8():15861(2017) [pubmed] |
Keyword List
curator keyword: Biomedical |
submitter keyword: Human, Skin, Hyaline Fibromatosis Syndrome, Collagen, Extracellular matrix |
Contact List
Gisou van der Goot |
contact affiliation | Faculty of life science, Global Health Institute, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. |
contact email | gisou.vandergoot@epfl.ch |
lab head | |
Jérôme Bürgi |
contact affiliation | EMBL |
contact email | jerome.buergi@embl-hamburg.de |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD006268
- Label: PRIDE project
- Name: Comparative proteomics of non-nodular and nodular skin tissues from a Hyaline Fibromatosis Syndrome patient.