Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis
- Submitting institution
-
University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 137393_59967
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2016.02.006
- Title of journal
- The American Journal of Human Genetics
- Article number
- -
- First page
- 579
- Volume
- 98
- Issue
- 3
- ISSN
- 0002-9297
- Open access status
- Out of scope for open access requirements
- Month of publication
- March
- Year of publication
- 2016
- URL
-
https://doi.org/10.1016/j.ajhg.2016.02.006
- 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
-
24
- Research group(s)
-
-
- Citation count
- 44
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- The publication identifies and characterises the first genetic defect in a known human syndrome. Gene defect detection studies often involve multiple international collaborative contributing teams and multiple clinicians.
The O’Driscoll lab generated all of the patient tissue-specific (i.e. skin, eyelid, thigh) primary fibroblast signal transduction data. Specifically, we determined basal (serum starved) and serum-induced levels of FGFR1 and phospho-FGFR1, phospho-ERK1/2, phospho-C-RAF and phospho-FRS-2. Mark O’Driscoll constructed Fig 2 and played a lead role in drafting the manuscript.
- Author contribution statement
- The publication identifies and characterises the first genetic defect in a known human syndrome. Gene defect detection studies often involve multiple international collaborative contributing teams and multiple clinicians.
The O’Driscoll lab generated all of the patient tissue-specific (i.e. skin, eyelid, thigh) primary fibroblast signal transduction data. Specifically, we determined basal (serum starved) and serum-induced levels of FGFR1 and phospho-FGFR1, phospho-ERK1/2, phospho-C-RAF and phospho-FRS-2. Mark O’Driscoll constructed Fig 2 and played a lead role in drafting the manuscript.
- Non-English
- No
- English abstract
- -