Linked Life Data

7959677

Source:http://linkedlifedata.com/resource/pubmed/id/7959677

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-12-15
pubmed:abstractText
Phosphate plays a central role in many of the basic processes essential to the cell and organism. In particular, skeletal mineralisation is dependent on the appropriate regulation of phosphate in the body, and any disturbances in phosphate homeostasis can have severe repercussions on the integrity of bone. The kidney regulates the serum levels of phosphate by tubular mechanisms which are not fully understood. Furthermore, the processes involved in regulating renal tubular phosphate reabsorption are complex, and involve a large number of factors. It is not surprising therefore that defects in renal phosphate handling result in a failure of bone mineralisation. There are three well characterised conditions which are associated with renal tubulopathies resulting in a phosphate leak, with consequent bone disease. Two are familial, hypophosphataemic rickets (HYP), and hereditary hypophosphataemic rickets with hypercalciuria (HHRH). The third is acquired via a tumour, oncogenic hypophosphataemic osteomalacia (OHO), and may well have relevance to the inherited hypophosphataemias. Recent advances in molecular genetics are permitting the identification of genes involved in human diseases from their chromosomal location. These approaches are now being applied to the analysis of the hypophosphataemias. The isolation of the genes responsible for the renal tubulopathies will be an important achievement. Ultimately this will help to increase our understanding of the mechanisms involved in the control of phosphate handling in the body.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
457-67
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia.
pubmed:affiliation
University College London, Dept. of Medicine, Middlesex Hospital, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't