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Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
- Published in:
- 2020
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- Publication type:
- journal article
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
- Published in:
- 2019
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- Publication type:
- journal article
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
- Published in:
- Science Signaling, 2018, v. 11, n. 518, p. 1, doi. 10.1126/scisignal.aan3714
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- Publication type:
- Article
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492
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- Publication type:
- Article
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
- Published in:
- 2014
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- Publication type:
- journal article
N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122650
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- Publication type:
- Article
Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119459
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- Publication type:
- Article
Role of Ca<sup>2+</sup> and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113622
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- Publication type:
- Article
Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055412
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- Publication type:
- Article
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.
- Published in:
- 2010
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- Publication type:
- journal article
Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac042
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- Publication type:
- Article
Genetic approaches to metabolic bone diseases.
- Published in:
- British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1147, doi. 10.1111/bcp.13803
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- Publication type:
- Article
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.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 442, doi. 10.1038/ejhg.2009.161
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- Publication type:
- Article
Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1231, doi. 10.1515/jpem-2020-0015
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- Publication type:
- Article
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
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- European Journal of Endocrinology, 2022, v. 187, n. 1, p. 111, doi. 10.1530/EJE-21-0730
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- Publication type:
- Article
European expert consensus on practical management of specific aspects of parathyroid disorders in adults and in pregnancy: recommendations of the ESE Educational Program of Parathyroid Disorders (PARAT 2021).
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- European Journal of Endocrinology, 2022, v. 186, n. 2, p. R33, doi. 10.1530/EJE-21-1044
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- Publication type:
- Article
Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3and lymphatic vessel endothelial hyaluronan receptor 1.
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- European Journal of Endocrinology, 2008, v. 158, n. 2, p. 265, doi. 10.1530/EJE-07-0485
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- Publication type:
- Article
Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.630875
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- Publication type:
- Article
Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.
- Published in:
- 2018
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- Publication type:
- journal article
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 10, p. 880, doi. 10.1093/hmg/ddab076
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- Publication type:
- Article
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 21, p. 3720, doi. 10.1093/hmg/ddy263
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- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010
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- Publication type:
- Article
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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- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5079, doi. 10.1093/hmg/ddv226
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- Publication type:
- Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105
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- Publication type:
- Article
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
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- Journal of Bone & Mineral Research, 2023, v. 38, n. 6, p. 907, doi. 10.1002/jbmr.4803
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- Publication type:
- Article
Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2315, doi. 10.1002/jbmr.4665
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- Publication type:
- Article
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1324, doi. 10.1002/jbmr.3695
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- Publication type:
- Article
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα<sub>11</sub> Mutation.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 1, p. 32, doi. 10.1002/jbmr.3241
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- Publication type:
- Article
Hypercalcemic Disorders in Children.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 11, p. 2157, doi. 10.1002/jbmr.3296
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- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
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- Publication type:
- Article
A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1200, doi. 10.1002/jbmr.2778
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- Publication type:
- Article
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome.
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- JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10739
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- Publication type:
- Article
Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.
- Published in:
- JBMR Plus, 2020, v. 4, n. 10, p. 1, doi. 10.1002/jbm4.10402
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- Publication type:
- Article
Genetics of monogenic disorders of calcium and bone metabolism.
- Published in:
- Clinical Endocrinology, 2022, v. 97, n. 4, p. 483, doi. 10.1111/cen.14644
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- Publication type:
- Article
Reference interval for albumin‐adjusted calcium based on a large UK population.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 1, p. 34, doi. 10.1111/cen.14326
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- Publication type:
- Article
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia F. M. Hannan et al. CaSR mutation in hyperparathyroidism
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 6, p. 715, doi. 10.1111/j.1365-2265.2010.03870.x
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- Publication type:
- Article
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.
- Published in:
- Clinical Endocrinology, 2006, v. 65, n. 5, p. 598, doi. 10.1111/j.1365-2265.2006.02634.x
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- Publication type:
- Article