Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation

Autor: Gorvin, CM, Hannan, FM, Cranston, T, Valta, H, Makitie, O, Schalin-Jantti, C, Thakker, RV

Publikováno v: Journal of Bone and Mineral Research

G‐protein subunit α‐11 (Gα11) couples the calcium‐sensing receptor (CaSR) to phospholipase C (PLC)‐mediated intracellular calcium (Ca2+ i) and mitogen‐activated protein kinase (MAPK) signaling, which in the parathyroid glands and kidneys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::985c1933c146243cd20b25b7074f7cc4
http://europepmc.org/articles/PMC5813271

Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss-of-function Gα 11 mutation

Autor: Gorvin, CM, Hannan, FM, Cranston, T, Valta, H, Makitie, O, Schalin-Jantti, C, Thakker, RV

Publikováno v: Journal of Bone and Mineral Research

G‐protein subunit α‐11 (Gα11) couples the calcium‐sensing receptor (CaSR) to phospholipase C (PLC)‐mediated intracellular calcium (Ca2+i) and mitogen‐activated protein kinase (MAPK) signaling, which in the parathyroid glands and kidneys r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::d6687b986f0fcdaccbef2c4b2270ad8d
http://livrepository.liverpool.ac.uk/3009506/1/Gorvin_et_al-2017-Journal_of_Bone_and_Mineral_Research.pdf

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family with Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Autor: Piret, SE, Gorvin, CM, Pagnamenta, AT, Howles, SA, Cranston, T, Rust, N, Nesbit, MA, Glaser, B, Taylor, JC, Buchs, AE, Hannan, F, Thakker, RV

Publikováno v: Journal of Bone and Mineral Research

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is genetically heterogeneous with ADH type 1 (ADH1), the predominant form, being caused by ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::16f85bc76bd4f7b664517592bf3e34ed
http://livrepository.liverpool.ac.uk/2050820/1/Piret_et_al-2016-Journal_of_Bone_and_Mineral_Research.pdf

Measuring Calcium-Sensing Receptor Agonist-Driven Insertional Signaling (ADIS) and Trafficking by TIRF Microscopy.

Autor: Gorvin CM; Metabolism and Systems Science and Centre for Diabetes, Endocrinology and Metabolism (CEDAM), University of Birmingham, Birmingham, UK. c.gorvin@bham.ac.uk.; Centre for Membrane Proteins and Receptors (COMPARE), Universities of Birmingham and Nottingham, Birmingham, UK. c.gorvin@bham.ac.uk.

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2025; Vol. 2861, pp. 111-126.

G protein-coupled receptor (GPCR) pharmacogenomics.

Autor: Thompson MD; Krembil Brain Institute, Toronto Western Hospital, Toronto, Ontario, Canada., Reiner-Link D; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Berghella A; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rana BK; Department of Psychiatry, University of California San Diego, San Diego, CA, USA., Rovati GE; Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy., Capra V; Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy., Gorvin CM; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, United Kingdom., Hauser AS; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Critical reviews in clinical laboratory sciences [Crit Rev Clin Lab Sci] 2024 Aug 09, pp. 1-44. Date of Electronic Publication: 2024 Aug 09.