NissirosV1, Main, Exploration, bibRecord, 000716

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

Identifieur interne : 000716 ( Main/Exploration ); précédent : 000715

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

Auteurs : Evaggelia Zapanti [Grèce] ; Aikaterini Polonifi [Grèce] ; Michalis Kokkinos [Grèce] ; George Boutzios [Grèce] ; Georgia Kassi [Grèce] ; Narjes Nasiri Ansari [Grèce] ; Eva Kassi [Grèce] ; Aris Polyzos [Grèce]

Source :

Hormones (Athens, Greece) [ 1109-3099 ]

RBID : pubmed:26158657

Descripteurs français

KwdFr :
- Adulte d'âge moyen, Calcium (métabolisme), Femelle, Grèce, Humains, Hypercalcémie (), Hypercalcémie (génétique), Mutation, Mâle, Récepteurs-détecteurs du calcium (génétique), Sujet âgé.
MESH :
- génétique : Hypercalcémie, Récepteurs-détecteurs du calcium.
- métabolisme : Calcium.
- Adulte d'âge moyen, Femelle, Grèce, Humains, Hypercalcémie, Mutation, Mâle, Sujet âgé.
Wicri :
- geographic : Grèce.

English descriptors

KwdEn :
- Aged, Calcium (metabolism), Female, Greece, Humans, Hypercalcemia (congenital), Hypercalcemia (genetics), Male, Middle Aged, Mutation, Receptors, Calcium-Sensing (genetics).
MESH :
- chemical , genetics : Receptors, Calcium-Sensing.
- chemical , metabolism : Calcium.
- geographic : Greece.
- congenital : Hypercalcemia.
- genetics : Hypercalcemia.
- Aged, Female, Humans, Male, Middle Aged, Mutation.

Abstract

Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR.

PubMed: 26158657

Affiliations:

Le document en format XML

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<author><name sortKey="Polyzos, Aris" sort="Polyzos, Aris" uniqKey="Polyzos A" first="Aris" last="Polyzos">Aris Polyzos</name>
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<term>Calcium (metabolism)</term>
<term>Female</term>
<term>Greece</term>
<term>Humans</term>
<term>Hypercalcemia (congenital)</term>
<term>Hypercalcemia (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Receptors, Calcium-Sensing (genetics)</term>
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<term>Calcium (métabolisme)</term>
<term>Femelle</term>
<term>Grèce</term>
<term>Humains</term>
<term>Hypercalcémie ()</term>
<term>Hypercalcémie (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Récepteurs-détecteurs du calcium (génétique)</term>
<term>Sujet âgé</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Calcium-Sensing</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Hypercalcemia</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hypercalcemia</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hypercalcémie</term>
<term>Récepteurs-détecteurs du calcium</term>
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<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Calcium</term>
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<term>Female</term>
<term>Humans</term>
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<term>Middle Aged</term>
<term>Mutation</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Grèce</term>
<term>Humains</term>
<term>Hypercalcémie</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Sujet âgé</term>
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<front><div type="abstract" xml:lang="en">Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR.</div>
</front>
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<tree><country name="Grèce"><region name="Attique (région)"><name sortKey="Zapanti, Evaggelia" sort="Zapanti, Evaggelia" uniqKey="Zapanti E" first="Evaggelia" last="Zapanti">Evaggelia Zapanti</name>
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<name sortKey="Boutzios, George" sort="Boutzios, George" uniqKey="Boutzios G" first="George" last="Boutzios">George Boutzios</name>
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<name sortKey="Kassi, Georgia" sort="Kassi, Georgia" uniqKey="Kassi G" first="Georgia" last="Kassi">Georgia Kassi</name>
<name sortKey="Kokkinos, Michalis" sort="Kokkinos, Michalis" uniqKey="Kokkinos M" first="Michalis" last="Kokkinos">Michalis Kokkinos</name>
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<name sortKey="Polyzos, Aris" sort="Polyzos, Aris" uniqKey="Polyzos A" first="Aris" last="Polyzos">Aris Polyzos</name>
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Serveur d'exploration Nissiros

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration Nissiros
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