Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance
- Submitting institution
-
University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 137393_49878
- Type
- D - Journal article
- DOI
-
10.1172/JCI73264
- Title of journal
- The Journal of Clinical Investigation
- Article number
- -
- First page
- 4028
- Volume
- 124
- Issue
- 9
- ISSN
- 0021-9738
- Open access status
- Out of scope for open access requirements
- Month of publication
- August
- Year of publication
- 2014
- URL
-
https://doi.org/10.1172/JCI73264
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
15
- Research group(s)
-
-
- Citation count
- 49
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- The publication identifies and characterises a novel genetic defect in a novel human syndrome. Gene defect detection studies often involve multiple collaborative contributing teams and multiple clinicians.
The O’Driscoll lab generated the NSMCE2 expression data using patient-derived B-cell lymphoblastoid cell lines (LCLs) and ectopically expressed NSMCE2 patient mutants to assess auto-SUMOylation activity. We also generated the binucleate and mononucleus data, S phase progression flow cytometry data, DNA damage-induced BLM foci formation data, LCL viability and apoptosis data and sister chromatid exchange datasets. Mark O’Driscoll played a leading role in drafting the manuscript and constructed Figs 1, 2 & 4 and Suppl Figs 2,3,4,5.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -