ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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Showing page 1 of results 1 - 10 of about 33 pages

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Insights into G-protein coupled receptor (GPCR) trafficking and biased signalling by studies of calcium homeostasis
Caroline Gorvin
http://www.endocrine-abstracts.org/ea/0050/ea0050ecp1.1.htm
Published: 2017-10-20

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Clinical evaluation of a multiple-gene sequencing panel for hypoparathyroidism
Victoria Stokes; Treena Cranston; Hannah Boon; Caroline Gorvin; Fadil Hannan; Rajesh Thakker
http://www.endocrine-abstracts.org/ea/0050/ea0050p182.htm
Published: 2017-10-20

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Systematic in silico evaluation of rare genetic variants in G-protein alpha 11 (Gα11)
Anna Gluck; Caroline M Gorvin; Rajesh V Thakker
http://www.endocrine-abstracts.org/ea/0050/ea0050p046.htm
Published: 2017-10-20

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Disruption of the G-protein subunit α11 (Gα11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2)
Caroline Gorvin; Treena Cranston; Tessa Homfray; Brian Shine; Fadil Hannan; Rajesh Thakker
http://www.endocrine-abstracts.org/ea/0050/ea0050p044.htm
Published: 2017-10-20

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Calcium-sensing receptor (CaSR) mutations in hypercalcaemic and hypocalcaemic patients cluster at the extracellular dimer interface
Mie K Olesen; Caroline M Gorvin; Rajesh V Thakker; Fadil M Hannan
http://www.endocrine-abstracts.org/ea/0050/ea0050oc6.6.htm
Published: 2017-10-20

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Gα11-Phe220Ser loss-of-function mutation causes familial hypocalciuric hypercalcemia type-2 (FHH2) by disrupting a hydrophobic cluster critical for G-protein signaling
Caroline M. Gorvin; Treena Cranston; Fadil M. Hannan; Helena Valta; Outi Makitie; Camilla Schalin-Jantti; Rajesh V. Thakker
http://www.endocrine-abstracts.org/ea/0049/ea0049oc10.5.htm
Published: 2017-05-03

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Vitamin D-Dependent Rickets Type I caused by a Novel Frameshift Mutation of the 25-hydroxyvitamin D1-alpha-hydroxylase gene (CYP27B1)
Victoria Stokes; Caroline Gorvin; Brian Shine; Rajesh Thakker
http://www.endocrine-abstracts.org/ea/0044/ea0044cc6.htm
Published: 2016-10-14

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Idiopathic Infantile Hypercalcaemia (IHH) caused by a missense mutation of 1,25-dihydroxyvitamin D2 24-hydroxylase (CYP24A1)
Victoria Stokes; Caroline Gorvin; Bahram Jafar-Mohammadi; Fiona Ryan; Rajesh Thakker
http://www.endocrine-abstracts.org/ea/0044/ea0044ep23.htm
Published: 2016-10-14

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The prolactin receptor variant, Asn492Ile, results in activation of the Akt signalling pathway, and is found more frequently in patients with prolactinomas
Caroline Gorvin; Paul Newey; Victoria Stokes; Angela Rogers; Georgia Ntali; Peter Lees; Niki Karavitaki; Ashley Grossman; Rajesh
http://www.endocrine-abstracts.org/ea/0044/ea0044p124.htm
Published: 2016-10-14

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Studies of an Autosomal Dominant Hypocalcemia type-1 (ADH1) associated calcium-sensing receptor (CaSR) mutation, Arg680Gly, provides insights into biased signalling
Caroline Gorvin; Valerie Babinsky; Anders Schou; Peter Nissen; Fadil Hannan; Rajesh Thakker
http://www.endocrine-abstracts.org/ea/0044/ea0044p47.htm
Published: 2016-10-14

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