Cargando…

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

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 germline gain‐of‐function mutations of the G‐protein...

Descripción completa

Detalles Bibliográficos
Autores principales:	Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, Rajesh V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915495/ https://www.ncbi.nlm.nih.gov/pubmed/26818911 http://dx.doi.org/10.1002/jbmr.2797

Ejemplares similares

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications
por: Elston, Marianne S, et al.
Publicado: (2022)

A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
por: Gorvin, Caroline M, et al.
Publicado: (2016)

Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2
por: Gorvin, Caroline M, et al.
Publicado: (2019)

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)
por: Hannan, Fadil M., et al.
Publicado: (2015)

Gα(11) mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
por: Gorvin, Caroline M., et al.
Publicado: (2017)

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model
por: Hannan, Fadil M, et al.
Publicado: (2020)

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
por: Dershem, Ridge, et al.
Publicado: (2020)

SAT218 Refractory Hypocalcemia From Combined Autosomal Dominant Hypocalcemia Type 2 And Postsurgical Hypoparathyroidism
por: Sonmez Ince, Melda, et al.
Publicado: (2023)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017)

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders
por: Babinsky, Valerie N., et al.
Publicado: (2016)

PTH infusion ameliorates seizures in autosomal dominant hypocalcemia type 1
por: Sastre, Ana, et al.
Publicado: (2021)

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias
por: Gorvin, Caroline M, et al.
Publicado: (2018)

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020)

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Hannan, Fadil M, et al.
Publicado: (2020)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα(11) mutation
por: Howles, Sarah A., et al.
Publicado: (2017)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
por: Nesbit, M. Andrew, et al.
Publicado: (2012)

SAT-036 Extracellular Domain Calcium-Sensing Receptor (CaSR) Mutations Leading to Hypercalcemic and Hypocalcemic Disorders Cluster at the Homodimeric Interface
por: Olesen, Mie, et al.
Publicado: (2019)

A Phase 2B, Open-Label, Dose-Ranging Study of Encaleret (CLTX-305) in Autosomal Dominant Hypocalcemia Type 1 (ADH1)
por: Gafni, Rachel Ilana, et al.
Publicado: (2021)

OR21-2 Encaleret (CLTX-305) Restored Mineral Homeostasis in a Phase 2 Study in Autosomal Dominant Hypocalcemia Type 1 (ADH1)
por: Collins, Michael, et al.
Publicado: (2022)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
por: Piret, Sian E., et al.
Publicado: (2016)

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
por: Cranston, Treena, et al.
Publicado: (2022)

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics
por: Zung, Amnon, et al.
Publicado: (2023)

Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2
por: Roszko, Kelly L., et al.
Publicado: (2016)

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review
por: Roszko, Kelly L, et al.
Publicado: (2022)

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5
por: Loh, Nellie Y., et al.
Publicado: (2013)

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
por: Teleanu, Raluca Ioana, et al.
Publicado: (2023)

MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)
por: Hannan, Fadil, et al.
Publicado: (2019)

Alcohol Consumption and Lung Cancer According to Ile349Val Polymorphism in ADH3 Gene: Beyond the Tobacco Smoking Effect
por: Fernández-Somoano, Ana, et al.
Publicado: (2017)

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report
por: Rossi, Gian C., et al.
Publicado: (2019)

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects
por: Hannan, Fadil M., et al.
Publicado: (2015)

ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case–Control Studies
por: Xue, Yao, et al.
Publicado: (2012)

The Effects of Encaleret (CLTX-305) on Mineral Physiology in Autosomal Dominant Hypocalcemia Type 1 (ADH1) Demonstrate Proof-of-Concept: Early Results From an Ongoing Phase 2b, Open-Label, Dose-Ranging Study
por: Gafni, Rachel Ilana, et al.
Publicado: (2021)

Role of Ca(2+) and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations
por: Zhang, Chen, et al.
Publicado: (2014)

ADH IB Expression, but Not ADH III, Is Decreased in Human Lung Cancer
por: Mutka, Sarah C., et al.
Publicado: (2012)

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling
por: Gorvin, Caroline M, et al.
Publicado: (2018)

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis
por: Hannan, Fadil M, et al.
Publicado: (2016)

Differential parathyroid and kidney Ca(2+)-sensing receptor activation in autosomal dominant hypocalcemia 1
por: van Megen, Wouter H., et al.
Publicado: (2022)

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
por: Wu, Yingying, et al.
Publicado: (2022)

Replication Study of ESCC Susceptibility Genetic Polymorphisms Locating in the ADH1B-ADH1C-ADH7 Cluster Identified by GWAS
por: Wang, Jiwen, et al.
Publicado: (2014)

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
por: Hannan, Fadil M, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_mpnsjunt468vkuroketr9k7fkq