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A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemiaDisorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasisN-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse modelsMutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaComparison 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.An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excessRole of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5Association 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).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).Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 MutationsGα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy.Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1.Hypercalcemic Disorders in Children.Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.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.Hypoparathyroidism.Investigating hypocalcaemiaIdentification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a <3.5 Megabase Pair Region on Chromosome 19q13.3Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 geneThe calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseasesCalcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling biasVitamin D deficiency masking primary hyperparathyroidism
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P50
description
hulumtues
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onderzoeker
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հետազոտող
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Fadil M Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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type
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Fadil M Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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prefLabel
Fadil M Hannan
@fr
Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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Fadil M. Hannan
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P106
P1153
15020788500
P21
P31
P496
0000-0002-2975-5170