Searchable abstracts of presentations at key conferences in endocrinology

ea0038pl4 | Society for Endocrinology Dale Medal Lecture | SFEBES2015

Calcium regulation: from rhinos to molecules

Thakker Rajesh

G-protein coupled receptors (GPCRs) comprise the largest superfamily within the human proteome, and are frequent targets for hormones and drugs. Important insights about the roles of GPCRs in endocrinology have been provided by studies of clinical disorders, as illustrated by those of calcium regulation, which involves the parathyroids, first discovered in an Indian Rhinoceros by Sir Richard Owen in 1849. The parathyroids and kidneys express the extracellular calcium-sensing r...

ea0038sk2.4 | Skills 2: Early Career Symposium: Effective communication: get involved, get engaged! | SFEBES2015

Making your impact statement: pack a punch

Thakker Rajesh

Funding and publication in biomedical research has become highly competitive and to succeed, it has become increasingly important to include statements that have broad appeal, i.e., impact, especially in the summaries of grant applications and manuscripts. The key elements in these statements are to keep them short, simple and ‘sweet’ (i.e. appealing to a wider audience). Consider the three following statements:i) We’ve got no money, so we...

ea0034s9.2 | MEN1 ‐ from molecular pathology to therapies (Supported by <emphasis role="italic">Endocrine-Related Cancer</emphasis>) | SFEBES2014

Genetics, pathophysiology and translational models of MEN1

Thakker Rajesh

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumours. In addition, some patients may also develop adrenal cortical tumours, carcinoid, facial angiofibromas, collagenomas, and lipomatous tumours. The gene causing MEN1 is located on chromosome 11q13, and encodes a 610 amino-acid protein, menin, that represents a tumour suppressor, as its loss of expression is ...

ea0028s1.1 | Genetic regulation of pituitary tumorigenesis | SFEBES2012

Genetic models of pituitary disease in multiple endocrine neoplasia type 1 (MEN1)

Thakker Rajesh

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterised by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. Over 60% of the anterior pituitary tumours in MEN1 patients are prolactinomas, ~25% are somatotrophinomas, ~5% are corticotrophinomas, and the remainder appear to be non-functioning. The MEN1 gene, a tumour suppressor, is located on chromosome 11q13, and more than 1300 MEN1 mutations, which are lik...

ea0038pl4biog | Society for Endocrinology Dale Medal Lecture | SFEBES2015

Society for Endocrinology Dale Medal Lecture

Thakker Rajesh V

Rajesh Thakker is the May Professor of Medicine at the University of Oxford, UK. He received his medical degree from the University of Cambridge in 1980, and from 1981 to 1988 he undertook postgraduate clinical and research training at The Middlesex Hospital, The Hammersmith (Royal Postgraduate Medical School, RPMS), Hospital, and Northwick Park (MRC Clinical Research Centre) Hospital (London). In 1988, he was appoint...

ea0055wh8 | Workshop H: Miscellaneous endocrine and metabolic disorders | SFEEU2018

Multiple endocrine neoplasia type 1: Can we talk about day-to-day ‘routine’ patients?

Selberherr Andreas , Stokes Victoria , Thakker Rajesh

A 35-year-old patient was referred to a tertiary referral unit for further investigation of severe watery diarrhea. Infectious agents had already been excluded. Biochemistry revealed a strikingly raised serum calcium concentration of 4.09 mmol/l (NR 2.1–2.65 mmol/l), chromogranin A was grossly elevated at 293 U/l (NR 2–18 U/l) and vasoactive intestinal peptide (VIP) was also raised at 130 pg/ml (NR 10–60 pg/ml). Computed tomography (CT) of the abdomen demonstrat...

ea0031oc5.7 | Pituitary and neoplasia | SFEBES2013

Uterine tumours with loss of progesterone receptor expression develop in mice deleted for a cell division cycle 73 allele

Walls Gerard , Manek Sanjiv , Thakker Rajesh

Mutations of the cell division cycle 73 (CDC73) gene, which encodes the 531 amino acid protein parafibromin, are associated with the Hyperparathyroidism-Jaw Tumour (HPT-JT) syndrome, an autosomal dominant disorder characterised by parathyroid tumours and ossifying jaw fibromas. In addition, ∼75% of women with HPT-JT develop benign and malignant uterine tumours, which include endometrial hyperplasia, adenosarcomas, adenofibromas, and leiomyomas. To explore the role of <em...

ea0031p152 | Neoplasia, cancer and late effects | SFEBES2013

Parathyroid gland studies in mouse models for endocrine tumours defines anatomical locations and ultrastructural differences between normal and tumour cells

Walls Gerard , Clark Anne , Thakker Rajesh

Investigation of parathyroids in mouse models is hampered by difficulties in identifying the small glands. We developed a microsurgical technique to identify murine parathyroids by dissecting from the distal thyrothymic ligament to the lower thyroid pole (LTP). Parathyroids were identified in 100 mice which comprised: 48 mice deleted for a cell-division-cycle 73 gene allele (Cdc73+/−), involved in the hyperparathyroidism-jaw tumour syndrome; ...

ea0013p19^ | Endocrine tumours and neoplasia | SFEBES2007

Genetic background influences expression of Multiple Endocrine Neoplasia type 1 (MEN1) mutation, implicating a role for genetic modifiers

Lemos Manuel , Harding Brian , Thakker Rajesh

The Multiple Endocrine Neoplasia type 1 (MEN1) gene is located on chromosome 11q13 and patients with mutations develop parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different families, can cause either FIHP or MEN1. This emphasises the importance of genetic background in altering the expression of a mutation, and suggests the presence of genetic ...

ea0086oc2.3 | Endocrine Cancer and Late Effects | SFEBES2022

Identification of five prolactin receptor variants with diverse effects on receptor signalling

Gorvin Caroline , Newey Paul , Thakker Rajesh

The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. Understanding of PRLR signalling is incompletely defined, with progress hampered by a lack of reported disease-associated variants in the genes for the prolactin hormone (PRL) and/or PRLR. To date, two common germline PRLR variants are reported to demonstrate constitutive activity, with one, Ile146Leu, ...