About
Contact & Profiles
A5058058947
Research Areas
- Biochemical and Molecular Research
- Neuroendocrine Tumor Research Advances
- ATP Synthase and ATPases Research
- Adrenal and Paraganglionic Tumors
- Nanoparticle-Based Drug Delivery
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
Imperial College London
2025
Abstract Objective Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of c.911G>A; p.(Arg304Gln) (R304Q) variant has been controversial. Recent data from public exome/genome databases show this is not infrequent. The objective work was to reassess pathogenicity R304Q based on clinical, genomic and functional assay data. Design, materials methods Data were...
10.1093/ejendo/lvaf044
article
EN
cc-by-nc
European Journal of Endocrinology
2025-03-12
10.1016/j.dyepig.2025.112827
article
EN
Dyes and Pigments
2025-04-01
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
10.1530/endoabs.44.p27
article
EN
Endocrine Abstracts
2016-10-14
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