Linked Life Data

14671404

Source:http://linkedlifedata.com/resource/pubmed/id/14671404

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-12-12
pubmed:abstractText
Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. Patients with PHP type 1a have a generalized form of hormone resistance plus a constellation of developmental defects termed Albright hereditary osteodystrophy (AHO). Within PHP type 1a families some individuals will show AHO but have normal hormone responsiveness, a variant phenotype termed pseudo-PHP. By contrast, patients with PHP type 1b manifest only PTH resistance and lack features of AHO. These various forms of PHP are due to defects in the GNAS1 gene that lead to decreased expression or activity of the alpha-subunit of the stimulatory G protein (G(s)alpha). Tissue-specific genomic imprinting of GNAS1 accounts for the variable phenotypes of patients with GNAS1 defects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0301-0163
pubmed:author
pubmed:copyrightInfo
Copyright 2003 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
60 Suppl 3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
87-95
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Genetic basis for resistance to parathyroid hormone.
pubmed:affiliation
The Children's Hospital at The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA. levinem@ccf.org
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, Non-P.H.S., Review