Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development
- Submitting institution
-
University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 355699_71891
- Type
- D - Journal article
- DOI
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10.1016/j.ajhg.2015.07.001
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 291
- Volume
- 97
- Issue
- 2
- ISSN
- 0002-9297
- Open access status
- Out of scope for open access requirements
- Month of publication
- July
- Year of publication
- 2015
- URL
-
https://doi.org/10.1016/j.ajhg.2015.07.001
- 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
-
36
- Research group(s)
-
-
- Citation count
- 37
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- Erika Mancini contributed to the paper by analyzing the structural consequences of the pathogenic mutations in TBX18 including the sequence alignments, the three-dimensional homology modelling of the structure of TBX18 and the modelling of the mutations on the ability to bind DNA. She also helped with the writing of the manuscript.
- Non-English
- No
- English abstract
- -