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ea0031oc4.7 | Obesity, metabolism and bone | SFEBES2013

Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1

Nesbit M Andrew , Hannan Fadil M , Howles Sarah A , Reed Anita A C , Cranston Treena , Thakker Clare E , Gregory Lorna , Rimmer Andrew J. , Rust Nigel , Graham Una , Morrison Patrick J , Hunter Steven J , Whyte Michael P , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...

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ea0031oc5.3 | Pituitary and neoplasia | SFEBES2013

Whole-exome sequencing studies of non-functioning pituitary adenomas

Newey Paul , Nesbit M Andrew , Rimmer Andrew , Head Rosie , Gorvin Caroline , Attar Moustafa , Gregory Lorna , Wass John , Buck David , Karavitaki Niki , Grossman Ashley , McVean Gilean , Ansorge Olaf , Thakker Rajesh

Pituitary non-functioning adenomas (NFAs), arising mostly from gonadotroph cells, represent the second most common type of pituitary tumour, after prolactinomas. NFAs are monoclonal in origin, but mutations of genes associated with hereditary pituitary syndromes (e.g. MEN1, AIP, CDKN1B, and PRKAR1A), classic oncogenes or tumour suppressor genes are rarely found. We therefore performed whole-exome sequence analysis to determine the tumourigenic events in pituitary NFAs using DN...

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Endocrine Abstracts

Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1

Whole-exome sequencing studies of non-functioning pituitary adenomas

BiosciAbstracts