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

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

Bibliografiske detaljer
Main Authors:	Graham, U, Nesbit, M, Hannan, F, Howles, SA, Thakker, R, Hunter, S
Format:	Journal article
Udgivet:	2013

Lignende værker

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
af: Nesbit, M, et al.
Udgivet: (2013)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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Udgivet: (2013)

Neonatal hypocalcemic seizures in offspring of a mother with familial hypocalciuric hypercalcemia type 1 (FHH1)
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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.
af: Nesbit, M, et al.
Udgivet: (2010)

A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2)
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Udgivet: (2016)

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.
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Case Report: Familial Hypocalciuric Hypercalcaemia and Hashimoto's Thyroiditis
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Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu)
af: Ai Chida, et al.
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A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism
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Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet.
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One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia
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Udgivet: (2021-06-01)

Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
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Udgivet: (2017)

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
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Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
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Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
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Udgivet: (2010)

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]
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Udgivet: (2019-09-01)

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
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Udgivet: (2015)

Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism
af: Bryan K. Ward, et al.
Udgivet: (2024-01-01)

Cinacalcet reverses short QT Interval in familial hypocalciuric hypercalcemia type 1
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Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.
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Udgivet: (2022-12-01)

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Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls
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Udgivet: (2020-06-01)

Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
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Udgivet: (2020-01-01)

Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
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N-ethyl-N-nitrosourea-induced adaptor protein 2 sigma subunit 1 ( Ap2s1 ) mutations establish Ap2s1 loss-of-function mice
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Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations
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Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature
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VGLUT2 Trafficking Is Differentially Regulated by Adaptor Proteins AP-1 and AP-3
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LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
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The role of the sigma subunit of Adaptor Protein-2, AP2σ2, in the regulation of calcium homeostasis
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The changing nature of family formation in Ireland
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The FHH Multilayer Expression: Effects of Particle Size
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Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
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Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia
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Familial Hypocalciuric Hypercalcemia and Benefits of Genetic Confirmation: A Case Report and Review
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Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
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Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
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Familial hypocalciuric hypercalcemia as a differential diagnosis of primary hyperparathyroidism with negative images
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