Literature DB >> 10952628

The molecular background to hypophosphataemic rickets.

P S Rowe1.   

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Year:  2000        PMID： 10952628      PMCID： PMC1718477          DOI： 10.1136/adc.83.3.192

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  53 in total

Review 1.  Cellular and molecular mechanisms of renal phosphate transport.

Authors:  H S Tenenhouse
Journal:  J Bone Miner Res       Date:  1997-02       Impact factor: 6.741

2.  Expression and cloning of the human X-linked hypophosphatemia gene cDNA.

Authors:  M Grieff; S Mumm; P Waeltz; R Mazzarella; M P Whyte; R V Thakker; D Schlessinger
Journal:  Biochem Biophys Res Commun       Date:  1997-02-24       Impact factor: 3.575

3.  Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3.

Authors:  S Roy; H S Tenenhouse
Journal:  Endocrinology       Date:  1996-07       Impact factor: 4.736

4.  The Gy mutation: another cause of X-linked hypophosphatemia in mouse.

Authors:  M F Lyon; C R Scriver; L R Baker; H S Tenenhouse; J Kronick; S Mandla
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

5.  Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

Authors:  T M Strom; F Francis; B Lorenz; A Böddrich; M J Econs; H Lehrach; T Meitinger
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150

6.  Hypophosphatemia induced in mice by transplantation of a tumor-derived cell line from a patient with oncogenic rickets.

Authors:  S A Chalew; J C Lovchik; C M Brown; C C Sun
Journal:  J Pediatr Endocrinol Metab       Date:  1996 Nov-Dec       Impact factor: 1.634

7.  Characteristics of tumor cell bioactivity in oncogenic osteomalacia.

Authors:  A E Nelson; H J Namkung; J Patava; M R Wilkinson; A C Chang; R R Reddel; B G Robinson; R S Mason
Journal:  Mol Cell Endocrinol       Date:  1996-11-29       Impact factor: 4.102

8.  Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.

Authors:  L Beck; Y Soumounou; J Martel; G Krishnamurthy; C Gauthier; C G Goodyer; H S Tenenhouse
Journal:  J Clin Invest       Date:  1997-03-15       Impact factor: 14.808

9.  Candidate 56 and 58 kDa protein(s) responsible for mediating the renal defects in oncogenic hypophosphatemic osteomalacia.

Authors:  P S Rowe; A C Ong; F J Cockerill; J N Goulding; M Hewison
Journal:  Bone       Date:  1996-02       Impact factor: 4.398

10.  The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).

Authors:  P S Rowe; J N Goulding; F Francis; C Oudet; M J Econs; A Hanauer; H Lehrach; A P Read; R C Mountford; T Summerfield; J Weissenbach; W Fraser; M K Drezner; K E Davies; J L O'Riordan
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132
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  11 in total

1.  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

2.  Case report: premature exfoliation of primary teeth in a 4-year-old child, a diagnostic dilemma.

Authors:  G Sharma; R Whatling
Journal:  Eur Arch Paediatr Dent       Date:  2011-12

3.  Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatin.

Authors:  Peter S N Rowe; Naoko Matsumoto; Oak D Jo; Remi N J Shih; Jeannine Oconnor; Martine P Roudier; Steve Bain; Shiguang Liu; Jody Harrison; Norimoto Yanagawa
Journal:  Bone       Date:  2006-06-09       Impact factor: 4.398

Review 4.  Case report: hypophosphatemic rickets and aggressive periodontitis: a review of the role of dentine matrix protein 1 in the pathogenesis.

Authors:  S H Al-Jundi; M M Hammad; I Dabous
Journal:  Eur Arch Paediatr Dent       Date:  2011-02

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

Review 6.  The investigation of hypocalcaemia and rickets.

Authors:  J Singh; N Moghal; S H S Pearce; T Cheetham
Journal:  Arch Dis Child       Date:  2003-05       Impact factor: 3.791

7.  Role of the small integrin-binding ligand N-linked glycoprotein (SIBLING), bone sialoprotein (BSP) in bone development and remodeling.

Authors:  L Malaval; J E Aubin; L Vico
Journal:  Osteoporos Int       Date:  2009-06       Impact factor: 4.507

8.  Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.

Authors:  Sara L Ma; Virginia Vega-Warner; Christopher Gillies; Matthew G Sampson; Vijay Kher; Sidharth K Sethi; Edgar A Otto
Journal:  PLoS One       Date:  2015-06-24       Impact factor: 3.240

9.  The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report.

Authors:  Matthew D Neal; Berthony Deslouches; Jennifer Ogilvie
Journal:  Cases J       Date:  2009-09-10

Review 10.  Dental Development in Patients with Hypophosphatemia Rickets.

Authors:  Ai-Jundi Sh; Hazza'a Am
Journal:  Int J Clin Pediatr Dent       Date:  2010-04-15
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