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Titolo:
MOLECULAR-BIOLOGY OF HYPOPHOSPHATEMIC RICKETS AND ONCOGENIC OSTEOMALACIA
Autore:
ROWE PSN;
Indirizzi:
UNIV COLL LONDON,MIDDLESEX HOSP,DEPT MED,MORTIMER ST LONDON W1N 8AA ENGLAND
Titolo Testata:
Human genetics
fascicolo: 5, volume: 94, anno: 1994,
pagine: 457 - 467
SICI:
0340-6717(1994)94:5<457:MOHRAO>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
D-RESISTANT RICKETS; X-LINKED HYPOPHOSPHATEMIA; SERUM 1,25-DIHYDROXYVITAMIN-D LEVELS; MULTILOCUS LINKAGE ANALYSIS; TUMOR-INDUCED OSTEOMALACIA; DEFECTIVE BONE-FORMATION; VITAMIN-D METABOLISM; HYP MICE; PHOSPHATE-TRANSPORT; INTERSPECIFIC BACKCROSS;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
99
Recensione:
Indirizzi per estratti:
Citazione:
P.S.N. Rowe, "MOLECULAR-BIOLOGY OF HYPOPHOSPHATEMIC RICKETS AND ONCOGENIC OSTEOMALACIA", Human genetics, 94(5), 1994, pp. 457-467

Abstract

Phosphate plays a centrol role in many of the basic processes essential to the cell and organism. In particular, skeletal mineralisation isdependent on the appropriate regulation of phosphate in the body, andany 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 resultingin 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 ofthe genes responsible for the renal tubulopathies will be an important achievement. Ultimately this will help to increase our understandingof the mechanisms involved in the control of phosphate handling in the body.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 10:51:52