Literature DB >> 22461821

Phosphatonins: new hormones involved in numerous inherited bone disorders.

Laura Masi1.   

Abstract

Phosphate (Pi) homeostasis is under control of several endocrine factors that play effects on bone, kidney and intestine. The control of Pi homeostasis has a significant biological importance, as it relates to numerous cellular mechanisms involved in energy metabolism, cell signaling, nucleic acid synthesis, membrane function, as well as skeletal health and integrity. Pi is essential for diverse biological processes, and negative Pi balance resulting from improperly regulated intestinal absorption, systemic utilization, and renal excretion. As results of these functions, chronic Pi deprivation causes several biological alterations, such as bone demineralization with unmineralized osateoid typical of osteomalacia in adults and rickets in developing animals and humans (1). Phosphatonins are new hormones playing an important role in the control of Pi homeostasis together with parathyroid hormone (PTH) and 1,25-dihydroxy vitamin D(3). Most insight into the underlying mechanisms was established by defining the molecular basis of different inherited disorders that are characterized by an abnormal regulation of Pi homeostasis.

Entities:  

Keywords:  bone metabolism; genetic disorders; phosphate homeostasis; phosphatonins

Year:  2011        PMID: 22461821      PMCID: PMC3279060     

Source DB:  PubMed          Journal:  Clin Cases Miner Bone Metab        ISSN: 1724-8914


  46 in total

Review 1.  "Phosphatonins" and the regulation of phosphorus homeostasis.

Authors:  Theresa J Berndt; Susan Schiavi; Rajiv Kumar
Journal:  Am J Physiol Renal Physiol       Date:  2005-12

2.  Mediation of unusually high concentrations of 1,25-dihydroxyvitamin D in homozygous klotho mutant mice by increased expression of renal 1alpha-hydroxylase gene.

Authors:  Toru Yoshida; Toshihiko Fujimori; Yo-Ichi Nabeshima
Journal:  Endocrinology       Date:  2002-02       Impact factor: 4.736

3.  A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

Authors:  Shoji Ichikawa; Kenneth W Lyles; Michael J Econs
Journal:  J Clin Endocrinol Metab       Date:  2005-02-01       Impact factor: 5.958

4.  Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Authors:  Bettina Lorenz-Depiereux; Anna Benet-Pages; Gertrud Eckstein; Yardena Tenenbaum-Rakover; Janine Wagenstaller; Dov Tiosano; Ruth Gershoni-Baruch; Norbert Albers; Peter Lichtner; Dirk Schnabel; Ze'ev Hochberg; Tim M Strom
Journal:  Am J Hum Genet       Date:  2005-12-09       Impact factor: 11.025

5.  Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Authors: 
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

6.  Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.

Authors:  M J Econs; P T McEnery
Journal:  J Clin Endocrinol Metab       Date:  1997-02       Impact factor: 5.958

7.  Biological activity of FGF-23 fragments.

Authors:  Theresa J Berndt; Theodore A Craig; Daniel J McCormick; Beate Lanske; Despina Sitara; Mohammed S Razzaque; Marlon Pragnell; Ann E Bowe; Stephen P O'Brien; Susan C Schiavi; Rajiv Kumar
Journal:  Pflugers Arch       Date:  2007-02-27       Impact factor: 3.657

8.  A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.

Authors:  Kaori Araya; Seiji Fukumoto; Rebecca Backenroth; Yasuhiro Takeuchi; Kounosuke Nakayama; Nobuaki Ito; Nozomi Yoshii; Yuji Yamazaki; Takeyoshi Yamashita; Justin Silver; Takashi Igarashi; Toshiro Fujita
Journal:  J Clin Endocrinol Metab       Date:  2005-07-19       Impact factor: 5.958

9.  Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Authors:  Orit Topaz; Daniel L Shurman; Reuven Bergman; Margarita Indelman; Paulina Ratajczak; Mordechai Mizrachi; Ziad Khamaysi; Doron Behar; Dan Petronius; Vered Friedman; Israel Zelikovic; Sharon Raimer; Arieh Metzker; Gabriele Richard; Eli Sprecher
Journal:  Nat Genet       Date:  2004-05-09       Impact factor: 38.330

10.  Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis.

Authors:  Tobias Larsson; Richard Marsell; Ernestina Schipani; Claes Ohlsson; Osten Ljunggren; Harriet S Tenenhouse; Harald Jüppner; Kenneth B Jonsson
Journal:  Endocrinology       Date:  2004-02-26       Impact factor: 4.736

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  1 in total

Review 1.  Genetic Causes of Rickets.

Authors:  Sezer Acar; Korcan Demir; Yufei Shi
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-12-27
  1 in total

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