Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingNew functional aspects of the extracellular calcium-sensing receptorCalcium-sensing receptor 20 years laterGenetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumorsMolecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing ReceptorThe Calcium-Sensing Receptor and the Parathyroid: Past, Present, FutureDisorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasisA Novel Ex Vivo Method for Visualizing Live-Cell Calcium Response Behavior in Intact Human TumorsIdentification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaAdaptor protein complexes and intracellular transport.Uncoupling of secretion from growth in some hormone secretory tissues.An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Association studies of calcium-sensing receptor (CaSR) polymorphisms with serum concentrations of glucose and phosphate, and vascular calcification in renal transplant recipients.Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.Single-cell functional analysis of parathyroid adenomas reveals distinct classes of calcium sensing behaviour in primary hyperparathyroidism.Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 MutationsMultiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus.Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.Claudin-14 underlies Ca⁺⁺-sensing receptor-mediated Ca⁺⁺ metabolism via NFAT-microRNA-based mechanismsLaboratory approaches for the diagnosis and assessment of hypercalcemia.Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.The calcium sensing receptor: from calcium sensing to signaling.Clinicopathological correlates of hyperparathyroidism.Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density.Genetics of Hyperparathyroidism, Including Parathyroid Cancer.Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
P2860
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P2860
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@ast
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@en
type
label
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@ast
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@en
prefLabel
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@ast
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
@en
P2093
Andrew J Rimmer
Anita A C Reed
Clare E Thakker
David Buck
Gil McVean
Lorna Gregory
M Andrew Nesbit
Michael P Whyte
Nigel Rust
Patrick J Morrison
P2860
P2888
P356
10.1038/NG.2492
P407
P577
2012-12-09T00:00:00Z
P5875
P6179
1034502086