Literature DB >> 12050201

Molecular pathogenesis of hypophosphatemic rickets.

Suzanne M Jan de Beur1, Michael A Levine.   

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Year:  2002        PMID： 12050201     DOI： 10.1210/jcem.87.6.8688

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  19 in total

1.  A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Authors:  Ilana Chefetz; Raoul Heller; Assimina Galli-Tsinopoulou; Gabriele Richard; Bernd Wollnik; Margarita Indelman; Friederike Koerber; Orit Topaz; Reuven Bergman; Eli Sprecher; Eckhard Schoenau
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

Review 2.  Hypophosphatemic rickets: etiology, clinical features and treatment.

Authors:  Vito Pavone; Gianluca Testa; Salvatore Gioitta Iachino; Francesco Roberto Evola; Sergio Avondo; Giuseppe Sessa
Journal:  Eur J Orthop Surg Traumatol       Date:  2014-06-24

3.  Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.

Authors:  Miroslav Zivičnjak; Dirk Schnabel; Heiko Billing; Hagen Staude; Guido Filler; Uwe Querfeld; Marius Schumacher; Anke Pyper; Carmen Schröder; Jürgen Brämswig; Dieter Haffner
Journal:  Pediatr Nephrol       Date:  2010-12-01       Impact factor: 3.714

4.  Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP).

Authors:  Peter S N Rowe; Ian R Garrett; Patricia M Schwarz; David L Carnes; Eileen M Lafer; Gregory R Mundy; Gloria E Gutierrez
Journal:  Bone       Date:  2004-11-24       Impact factor: 4.398

5.  FGF-23 and sFRP-4 in chronic kidney disease and post-renal transplantation.

Authors:  Sangeeta Pande; Cynthia S Ritter; Marcos Rothstein; Karen Wiesen; John Vassiliadis; Rajiv Kumar; Susan C Schiavi; Eduardo Slatapolsky; Alex J Brown
Journal:  Nephron Physiol       Date:  2006-05-10

6.  Dental arch dimensions in children with hypophosphataemic Vitamin D resistant rickets.

Authors:  S H Al-Jundi; Y F Al-Naimy; S Alsweedan
Journal:  Eur Arch Paediatr Dent       Date:  2010-04

Review 7.  Disorders of phosphate homeostasis in children, part 1: primer on mineral ion homeostasis and the roles of phosphate in skeletal biology.

Authors:  Richard M Shore
Journal:  Pediatr Radiol       Date:  2022-05-10

Review 8.  The wrickkened pathways of FGF23, MEPE and PHEX.

Authors:  Peter S N Rowe
Journal:  Crit Rev Oral Biol Med       Date:  2004-09-01

9.  The phosphaturic mesenchymal tumor: why is definitive diagnosis and curative surgery often delayed?

Authors:  Cameron K Ledford; Nicole A Zelenski; Diana M Cardona; Brian E Brigman; William C Eward
Journal:  Clin Orthop Relat Res       Date:  2013-07-19       Impact factor: 4.176

Review 10.  Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Authors:  Ilana Chefetz; Eli Sprecher
Journal:  Biochim Biophys Acta       Date:  2008-10-25
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