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Molecular genetics of familial tumor...

Garringer, Holly J.

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Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23./
Author:	Garringer, Holly J.
Description:	192 p.
Notes:	Adviser: Kenneth E. White.
Contained By:	Dissertation Abstracts International68-09B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3277986
ISBN:	9780549216353

Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23.
Garringer, Holly J.

Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23. - 192 p.

Adviser: Kenneth E. White.

Thesis (Ph.D.)--Indiana University, 2007.

The regulation of serum phosphate concentrations is dependent upon complex and yet to be fully understood interactions between endocrine pathways. Disruptions within these pathways result in mis-regulation of phosphate homeostasis and lead to clinical disorders. Phosphate homeostasis is a central biological process required to maintain normal growth and development as well as sustain bone composition. The kidneys play the lead role in serum phosphate regulation. Phosphate, like most other ions and molecules, is secreted into the filtrate at the kidney glomerulus. Through reabsorption, phosphate re-enters the circulation via the actions of a sodium/phosphate co-transporter type IIa (NPT2a) in the apical membrane of proximal tubule cells. In disorders of hypo- and hyperphosphatemia, the normal regulation of NPT2a activity is disturbed.

ISBN: 9780549216353Subjects--Topical Terms:

1017730
Biology, Genetics.

Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23.
LDR:03509nam 2200337 a 45 001 943697
005 20110520
008 110520s2007 ||||||||||||||||| ||eng d
020 $a 9780549216353
035 $a (UMI)AAI3277986
035 $a AAI3277986
040 $a UMI $c UMI
100 1 $a Garringer, Holly J. $3 1267732
245 1 0 $a Molecular genetics of familial tumoral calcinosis and the role of fibroblast growth factor 23.
300 $a 192 p.
500 $a Adviser: Kenneth E. White.
500 $a Source: Dissertation Abstracts International, Volume: 68-09, Section: B, page: 5712.
502 $a Thesis (Ph.D.)--Indiana University, 2007.
520 $a The regulation of serum phosphate concentrations is dependent upon complex and yet to be fully understood interactions between endocrine pathways. Disruptions within these pathways result in mis-regulation of phosphate homeostasis and lead to clinical disorders. Phosphate homeostasis is a central biological process required to maintain normal growth and development as well as sustain bone composition. The kidneys play the lead role in serum phosphate regulation. Phosphate, like most other ions and molecules, is secreted into the filtrate at the kidney glomerulus. Through reabsorption, phosphate re-enters the circulation via the actions of a sodium/phosphate co-transporter type IIa (NPT2a) in the apical membrane of proximal tubule cells. In disorders of hypo- and hyperphosphatemia, the normal regulation of NPT2a activity is disturbed.
520 $a Fibroblast growth factor 23 (FGF23) is a circulating polypeptide produced mainly in osteoblasts, and is vital to the process of phosphate homeostasis, exemplified by human disorders caused by mutations in the FGF23 gene. Autosomal dominant hypophosphatemic rickets (ADHR) is the result of stabilizing mutations in FGF23. ADHR mutations prevent cleavage and inactivation of the FGF23 protein. Failure to inactivate FGF23 results in the inability to reabsorb phosphate, and manifests in hypophosphatemia, loss of bone mass, and rickets or osteomalacia. The clinical mirror-image of ADHR is the autosomal recessive disorder, familial tumoral calcinosis (TC). TC can be the result of homozygous inactivating mutations in FGF23 or its upstream regulators. Without FGF23 activity, NPT2a remains active longer, and abnormal amounts of phosphate are reabsorbed into the bloodstream. TC patients suffer from hyperphosphatemia and ectopic and vascular calcifications. These disorders demonstrate that FGF23 plays a regulatory role in the absorption of phosphate from the filtrate in the proximal tubule. However, much remains unknown about the FGF23 polypeptide, its processing, regulation, required co-factors and molecular mechanism of activity. This research clarifies the role of key residues and domains in FGF23 post-translational processing, co-factor interactions, as well as receptor activation, and tests the central hypothesis that cellular processing and activity of FGF23 are dependent upon critical residues and structural domains.
590 $a School code: 0093.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Biology, Molecular. $3 1017719
690 $a 0307
690 $a 0369
710 2 $a Indiana University. $b Medical & Molecular Genetics. $3 1267733
773 0 $t Dissertation Abstracts International $g 68-09B.
790 $a 0093
790 1 0 $a DePaoli-Roach, Anna A. $e committee member
790 1 0 $a Dlouhy, Stephen R. $e committee member
790 1 0 $a Reed, Terry E. $e committee member
790 1 0 $a Thurston, Virginia C. $e committee member
790 1 0 $a White, Kenneth E., $e advisor
791 $a Ph.D.
792 $a 2007
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3277986