Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide-binding protein (G-protein)-coupled receptor that signals through the G-p...

Podrobná bibliografie
Hlavní autoři:	Nesbit, M, Hannan, F, Howles, SA, Babinsky, V, Head, R, Cranston, T, Rust, N, Hobbs, MR, Heath, H, Thakker, R
Médium:	Journal article
Jazyk:	English
Vydáno:	2013

Podobné jednotky

GNA11 variants identified in patients with hypercalcemia or hypocalcemia
Autor: Howles, S, a další
Vydáno: (2023)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation
Autor: Howles, S, a další
Vydáno: (2017)

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
Autor: Gorvin, C, a další
Vydáno: (2017)

A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2)
Autor: Gorvin, C, a další
Vydáno: (2016)

Activating mutations of the G-protein subunit α11 interdomain interface cause autosomal dominant hypocalcemia type 2
Autor: Gorvin, C, a další
Vydáno: (2019)

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations
Autor: Howles, S, a další
Vydáno: (2016)

Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
Autor: Gorvin, C, a další
Vydáno: (2017)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
Autor: Nesbit, M, a další
Vydáno: (2013)

Allosteric modulation of the calcium-sensing receptor rectifies signaling abnormalities associated with G-protein α-11 mutations causing hypercalcemic and hypocalcemic disorders
Autor: Babinsky, VN, a další
Vydáno: (2016)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Autor: Nesbit, M, a další
Vydáno: (2013)

Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population
Autor: Dershem, R, a další
Vydáno: (2020)

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Autor: Rogers, A, a další
Vydáno: (2014)

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors
Autor: Roszko, K, a další
Vydáno: (2017)

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism
Autor: Mannstadt, M, a další
Vydáno: (2013)

Familial hypocalcemia -- not hypoparathyroidism.
Autor: Heath, D
Vydáno: (1996)

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling
Autor: Gorvin, C, a další
Vydáno: (2018)

The role of the G-protein subunit, G-alpha-11, and the adaptor protein 2 sigma subunit, ap2-sigma-2, in the regulation of calcium homeostasis
Autor: Howles, S
Vydáno: (2015)

AUTOSOMAL-DOMINANT HYPOCALCEMIA ASSOCIATED WITH A MUTATION IN THE CALCIUM-SENSING RECEPTOR
Autor: Pearce, S, a další
Vydáno: (1995)

Calcilytic NPSP795 increases plasma calcium and PTH in an autosomal dominant hypocalcemia type 1 mouse model
Autor: Hannan, FM, a další
Vydáno: (2020)

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Autor: Pearce, S, a další
Vydáno: (1995)

Neonatal hypocalcemic seizures in offspring of a mother with familial hypocalciuric hypercalcemia type 1 (FHH1)
Autor: Dharmaraj, P, a další
Vydáno: (2020)

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Autor: Pearce, S, a další
Vydáno: (1996)

THE PATHO-PHYSIOLOGY OF HYPERCALCEMIA
Autor: Kanis, J, a další
Vydáno: (1980)

PTH infusion for seizures in autosomal dominant hypocalcemia type 1
Autor: Sastre, A, a další
Vydáno: (2021)

Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene
Autor: Graham, U, a další
Vydáno: (2013)

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
Autor: Nesbit, M, a další
Vydáno: (2010)

Cinacalcet reverses short QT Interval in familial hypocalciuric hypercalcemia type 1
Autor: Cuny, T, a další
Vydáno: (2023)

Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome.
Autor: Mussai, F, a další
Vydáno: (2008)

A P-loop mutation in Gα subunits prevents transition to the active state : implications for G-protein signaling in fungal pathogenesis
Autor: Siderovski, David P., a další
Vydáno: (2013)

A neonate with hypocalcemia and cardiac anomaly
Autor: Arifin, Adilah, a další
Vydáno: (2021)

The α-subunit of the heterotrimeric G-protein affects jasmonate responses in Arabidopsis thaliana
Autor: Okamoto, H, a další
Vydáno: (2009)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Autor: Lloyd, SE, a další
Vydáno: (1999)

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Autor: Hannan, F, a další
Vydáno: (2015)

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
Autor: Hannan, F, a další
Vydáno: (2016)

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
Autor: Mirczuk, S, a další
Vydáno: (2010)

Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.
Autor: Cianferotti, L, a další
Vydáno: (1999)

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Autor: Gaynor, K, a další
Vydáno: (2009)

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
Autor: Hannan, F, a další
Vydáno: (2008)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
Autor: Trump, D, a další
Vydáno: (1993)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
Autor: Webster, R, a další
Vydáno: (2014)