Linked Life Data

11857921

Source:http://linkedlifedata.com/resource/pubmed/id/11857921

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-2-22
pubmed:abstractText
Calcium-sensing receptor (CaSR) plays an essential role in regulating secretion of parathyroid hormone. After the identification of CaSR, some cases of familial hypocalciuric hypercalcemia (FHH) were shown to have heterozygous inactivating mutations of CaSR. However, linkage study showed that there are additional two genetic loci for FHH in addition to the chromosomal location of CaSR gene. Furthermore, one family with heterozygous inactivating mutation of CaSR was shown to exhibit hypercalcemia with hypercalciuria. Therefore, heterozygous inactivating mutation of CaSR is not synonymous with FHH. In addition, patients with neonatal severe hyperparathyroidism were shown to have homozygous or compound heterozygous inactivating mutations of CaSR.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0047-1852
pubmed:author
pubmed:issnType
Print
pubmed:volume
60
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-30
pubmed:dateRevised
2011-7-27
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
pubmed:affiliation
Department of Medicine, Division of Nephrology and Endocrinology, University of Tokyo.
pubmed:publicationType
Journal Article, English Abstract, Review