Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/121636
Campo DC | Valor | idioma |
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dc.contributor.author | García-Castaño, Alejandro | en_US |
dc.contributor.author | Madariaga, Leire | en_US |
dc.contributor.author | Pérez de Nanclares, Gustavo | en_US |
dc.contributor.author | Ariceta, Gema | en_US |
dc.contributor.author | Gaztambide, Sonia | en_US |
dc.contributor.author | Castaño, Luis | en_US |
dc.contributor.author | Ramírez González, Juan Andrés | en_US |
dc.contributor.author | Gómez Cabrera, María Milagrosa | en_US |
dc.contributor.author | Montalban, C | en_US |
dc.contributor.author | Ruiz, R | en_US |
dc.contributor.author | Socias, C | en_US |
dc.contributor.author | Boronat Cortés, Mauro | en_US |
dc.contributor.author | Aparicio, C | en_US |
dc.contributor.author | Alonso Bilbao, Ignacio | en_US |
dc.contributor.author | Conde, S | en_US |
dc.contributor.author | Garcia-Cuartero, B | en_US |
dc.contributor.author | Jimenez, B | en_US |
dc.contributor.author | Medina Rodríguez, Pedro | en_US |
dc.contributor.author | Perez, E | en_US |
dc.contributor.author | Hidalgo-Barquero, E | en_US |
dc.contributor.author | Barrio, R | en_US |
dc.contributor.author | Gonzalez, CM | en_US |
dc.contributor.author | Cordo, CLR | en_US |
dc.contributor.author | Cruz, J | en_US |
dc.contributor.author | Hernandez, J | en_US |
dc.contributor.author | Fernández-Ramos, C | en_US |
dc.contributor.author | Marti, J | en_US |
dc.contributor.author | Clemente, M | en_US |
dc.contributor.author | Garcia, L | en_US |
dc.contributor.author | Rica, I | en_US |
dc.contributor.author | Martinez, R | en_US |
dc.contributor.author | Urrutia, I | en_US |
dc.contributor.author | de LaPiscina, IM | en_US |
dc.contributor.author | Santos, F | en_US |
dc.contributor.author | Gil-Pena, H | en_US |
dc.contributor.author | Coto, E | en_US |
dc.contributor.author | Loredo, V | en_US |
dc.contributor.author | Ordonez, FA | en_US |
dc.contributor.author | Rodriguez, J | en_US |
dc.contributor.author | Riera, EB | en_US |
dc.contributor.author | Hernandez, O | en_US |
dc.contributor.author | Fuente, R | en_US |
dc.contributor.author | Claramunt, D | en_US |
dc.contributor.author | Nieto, VMG | en_US |
dc.contributor.author | Martin, FC | en_US |
dc.contributor.author | Acosta, HG | en_US |
dc.contributor.author | Trujillo, ER | en_US |
dc.contributor.author | Yanes, MIL | en_US |
dc.contributor.author | Lanus, EC | en_US |
dc.contributor.author | Castano, L | en_US |
dc.contributor.author | Madariaga, L | en_US |
dc.contributor.author | de Nanclares, GP | en_US |
dc.contributor.author | Garcia-Castano, A | en_US |
dc.contributor.author | Aguirre, M | en_US |
dc.contributor.author | Campos Herrero Navas,María Isolina | en_US |
dc.contributor.author | Aguayo, A | en_US |
dc.contributor.author | Ariceta, G | en_US |
dc.contributor.author | Meseguer, A | en_US |
dc.contributor.author | Boronat M | en_US |
dc.date.accessioned | 2023-03-28T14:44:59Z | - |
dc.date.available | 2023-03-28T14:44:59Z | - |
dc.date.issued | 2019 | en_US |
dc.identifier.issn | 0804-4643 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/121636 | - |
dc.description.abstract | Objective: Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) is known to play a central role in the regulation of extracellular calcium homeostasis. We performed clinical, biochemical and genetic characterization of sequence anomalies in this receptor in a cohort of 130 individuals from 82 families with suspected alterations in the CASR gene, one of the largest series described. Methods: The CASR gene was screened for mutations by polymerase chain reaction followed by direct Sanger sequencing. Results: Presumed CaSR-inactivating mutations were found in 65 patients from 26 families. These patients had hypercalcemia (median: 11.3 mg/dL) but normal or abnormally hig h parathyroid hormone (PTH) levels (median: 52 pg/ mL). On the other hand, presumed CaSR-activating mutations were detected in 17 patients from eight families. These patients had a median serum calcium level of 7.4 mg/dL and hypo parathyroidism (median: PTH 13 pg/mL). Further, common polymorphisms previously associated with high blood ionized calcium levels were found in 27 patients (median calcium: 10.6 mg/dL; median PTH: 65 pg/mL) with no othe r alterations in CASR. Overall, we found 30 different mutations, of which, 14 have not been previously reported (p.Ala26Ser, p.Cys60Arg, p.Lys119Ile, p.Leu123Met, p.Glu133Val, p.Gly222Glu, p.Phe351Ile, p.Cys542Tyr, p.Cys546Gly, p.Cys677Tyr, p.Ile816Val, p.Ala887Asp, p.Glu934*, p.Pro935_Gln945dup). Conclusions: Patients with CASR mutations may not fit the classic clinical pictures of hypercal cemia with hypocalciuria or hypocalcemia with hypercalciuria. Molecular studies are impo rtant for confirming the diagnosis and distinguishing it from other entities. Our genetic analysis confirmed CaSR disorde rs in 82 patients in the study cohort. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | European Journal of Endocrinology | en_US |
dc.source | European Journal of Endocrinology [ISSN 0804-4643], v. 180 (1), p. 59-70, (Enero 2019) | en_US |
dc.title | Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1530/EJE-18-0129 | en_US |
dc.identifier.pmid | 30407919 | - |
dc.identifier.scopus | 2-s2.0-85062591880 | - |
dc.identifier.isi | WOS:000457062400003 | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.description.lastpage | 70 | en_US |
dc.identifier.issue | 1 | - |
dc.description.firstpage | 59 | en_US |
dc.relation.volume | 180 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.utils.revision | Sí | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.sjr | 1,891 | |
dc.description.jcr | 5,308 | |
dc.description.sjrq | Q1 | |
dc.description.jcrq | Q1 | |
dc.description.scie | SCIE | |
item.fulltext | Con texto completo | - |
item.grantfulltext | open | - |
crisitem.author.dept | GIR IUIBS: Patología y Tecnología médica | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Morfología | - |
crisitem.author.dept | GIR ECOAQUA: Ecofisiología de Organismos Marinos | - |
crisitem.author.dept | IU de Investigación en Acuicultura Sostenible y Ec | - |
crisitem.author.dept | Departamento de Biología | - |
crisitem.author.dept | GIR IUIBS: Diabetes y endocrinología aplicada | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.dept | GIR IOCAG: Geología Aplicada y Regional | - |
crisitem.author.dept | IU de Oceanografía y Cambio Global | - |
crisitem.author.dept | Departamento de Física | - |
crisitem.author.dept | GIR IUIBS: Patología y Tecnología médica | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.orcid | 0000-0003-2336-6083 | - |
crisitem.author.orcid | 0000-0002-7396-6493 | - |
crisitem.author.orcid | 0000-0001-8535-8543 | - |
crisitem.author.orcid | 0000-0002-9663-0773 | - |
crisitem.author.orcid | 0000-0002-1310-3354 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.parentorg | IU de Investigación en Acuicultura Sostenible y Ec | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.parentorg | IU de Oceanografía y Cambio Global | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Ramírez González, Juan Andrés | - |
crisitem.author.fullName | Gómez Cabrera, María Milagrosa | - |
crisitem.author.fullName | Boronat Cortés, Mauro | - |
crisitem.author.fullName | Alonso Bilbao, Ignacio | - |
crisitem.author.fullName | Campos Herrero Navas,María Isolina | - |
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