Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (Q36709030)

15 August 2017

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (English)

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familial hypocalciuric hypercalcemia

15 August 2017

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Sarah A Howles

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Fadil M. Hannan

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Fadil M Hannan

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Rajesh Thakker

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Rajesh V Thakker

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Michael P. Whyte

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object named as

Michael P Whyte

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15 August 2017

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Una Graham

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Treena Cranston

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Clare E Thakker

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15 August 2017

M Andrew Nesbit

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Anita A C Reed

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15 August 2017

Lorna Gregory

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15 August 2017

Andrew J Rimmer

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Nigel Rust

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Patrick J Morrison

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Steven J Hunter

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Gil McVean

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David Buck

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language of work or name

English

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publication date

9 December 2012

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15 August 2017

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45

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1

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93-97

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https://scigraph.springernature.com/pub.10.1038/ng.2492

15 August 2017

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cites work

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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

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Calcium-sensing receptor endocytosis links extracellular calcium signaling to parathyroid hormone-related peptide secretion via a Rab11a-dependent and AMSH-sensitive mechanism

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Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals

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Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification

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The laminopathies: nuclear structure meets disease

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Molecular architecture and functional model of the endocytic AP2 complex

30 September 2017

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Differential roles of arrestin-2 interaction with clathrin and adaptor protein 2 in G protein-coupled receptor trafficking

30 September 2017

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Extracellular calcium sensing and extracellular calcium signaling

30 September 2017

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Inhibition of the receptor-binding function of clathrin adaptor protein AP-2 by dominant-negative mutant mu2 subunit and its effects on endocytosis

30 September 2017

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Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

30 September 2017

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Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells

30 September 2017

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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

30 September 2017

1 reference

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Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

30 September 2017

1 reference

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Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

30 September 2017

1 reference

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Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605788

AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast

30 September 2017

1 reference

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Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

30 September 2017

1 reference

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Adaptor protein-2 interaction with arrestin regulates GPCR recycling and apoptosis

30 September 2017

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Monoclonal antibodies against synthetic peptides corresponding to the extracellular domain of the human Ca2+ receptor: characterization and use in studying concanavalin A inhibition.

28 June 2018

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

28 June 2018

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5 September 2018

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Molecular switches involving the AP-2 beta2 appendage regulate endocytic cargo selection and clathrin coat assembly

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605788

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605788

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

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23222959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23222959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2492

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

1 reference