| pubmed-article:11668634 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C0249742 | lld:lifeskim |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C0342637 | lld:lifeskim |
| pubmed-article:11668634 | lifeskim:mentions | umls-concept:C1832615 | lld:lifeskim |
| pubmed-article:11668634 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:11668634 | pubmed:dateCreated | 2001-10-22 | lld:pubmed |
| pubmed-article:11668634 | pubmed:abstractText | We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individuals were heterozygous for a g to t substitution in the last nucleotide of intron 2 (IVS2-1G>T). Defects in messenger RNA splicing were investigated by illegitimate transcription of the CASR gene in lymphoblastoid cells from an FHH affected individual, as well as by transfection of a CASR minigene harboring this mutation into HEK293 cells. The mutation resulted predominantly in exon III skipping causing a shift in exon IV reading frame and introduction of a premature stop codon leading to a predicted truncated protein of 153 amino acids. Interestingly, it was noted that exon III splicing is not 100% efficient in parathyroid, thyroid, and kidney; an exon III-deleted transcript is produced approximately 15% of the time. This is the first description of a splice site mutation in the CASR gene and provides an explanation of the clinical phenotype of the patients. | lld:pubmed |
| pubmed-article:11668634 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11668634 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11668634 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11668634 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11668634 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:11668634 | pubmed:issn | 1098-1004 | lld:pubmed |
| pubmed-article:11668634 | pubmed:author | pubmed-author:HendyG NGN | lld:pubmed |
| pubmed-article:11668634 | pubmed:author | pubmed-author:ColeD EDE | lld:pubmed |
| pubmed-article:11668634 | pubmed:author | pubmed-author:JanicicNN | lld:pubmed |
| pubmed-article:11668634 | pubmed:author | pubmed-author:CanaffLL | lld:pubmed |
| pubmed-article:11668634 | pubmed:author | pubmed-author:D'Souza-LiLL | lld:pubmed |
| pubmed-article:11668634 | pubmed:copyrightInfo | Copyright 2001 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:11668634 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:11668634 | pubmed:volume | 18 | lld:pubmed |
| pubmed-article:11668634 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11668634 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11668634 | pubmed:pagination | 411-21 | lld:pubmed |
| pubmed-article:11668634 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:11668634 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11668634 | pubmed:articleTitle | An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. | lld:pubmed |
| pubmed-article:11668634 | pubmed:affiliation | Department of Medicine, McGill University and Royal Victoria Hospital, Montreal, Canada. | lld:pubmed |
| pubmed-article:11668634 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11668634 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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