Literature DB >> 9199930

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

F Francis1, T M Strom, S Hennig, A Böddrich, B Lorenz, O Brandau, K L Mohnike, M Cagnoli, C Steffens, S Klages, K Borzym, T Pohl, C Oudet, M J Econs, P S Rowe, R Reinhardt, T Meitinger, H Lehrach.   

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Year:  1997        PMID： 9199930     DOI： 10.1101/gr.7.6.573

Source DB:  PubMed          Journal:  Genome Res        ISSN： 1088-9051            Impact factor:   9.043


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  35 in total

Review 1.  Hypophosphatemic rickets.

Authors:  L A DiMeglio; M J Econs
Journal:  Rev Endocr Metab Disord       Date:  2001-04       Impact factor: 6.514

Review 2.  The molecular background to hypophosphataemic rickets.

Authors:  P S Rowe
Journal:  Arch Dis Child       Date:  2000-09       Impact factor: 3.791

3.  A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.

Authors:  Shoji Ichikawa; Anthony M Austin; Amie K Gray; Michael J Econs
Journal:  J Bone Miner Res       Date:  2012-02       Impact factor: 6.741

4.  Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Authors:  Shoji Ichikawa; Elizabeth A Traxler; Selina A Estwick; Leah R Curry; Michelle L Johnson; Andrea H Sorenson; Erik A Imel; Michael J Econs
Journal:  Bone       Date:  2008-06-18       Impact factor: 4.398

Review 5.  Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.

Authors:  Binata Marik; Arvind Bagga; Aditi Sinha; Pankaj Hari; Arundhati Sharma
Journal:  J Pediatr Genet       Date:  2018-01-28

6.  An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

Authors:  Marina R Carpinelli; Ian P Wicks; Natalie A Sims; Kristy O'Donnell; Katherine Hanzinikolas; Rachel Burt; Simon J Foote; Melanie Bahlo; Warren S Alexander; Douglas J Hilton
Journal:  Am J Pathol       Date:  2002-11       Impact factor: 4.307

7.  Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice.

Authors:  Andrew C Karaplis; Xiuying Bai; Jean-Pierre Falet; Carolyn M Macica
Journal:  Endocrinology       Date:  2012-10-04       Impact factor: 4.736

8.  Computer modeling and nanosecond simulation of the enzyme-substrate complex of the common lymphoblastic leukemia antigen (neprilysin) indicates shared residues at the primary specificity pocket (S1') with matrix metalloproteases.

Authors:  Sergio Manzetti
Journal:  J Mol Model       Date:  2003-08-29       Impact factor: 1.810

9.  FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.

Authors:  Jyothsna Gattineni; Carlton Bates; Katherine Twombley; Vangipuram Dwarakanath; Michael L Robinson; Regina Goetz; Moosa Mohammadi; Michel Baum
Journal:  Am J Physiol Renal Physiol       Date:  2009-06-10

10.  PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

Authors:  Céline Gaucher; Odile Walrant-Debray; Thy-Minh Nguyen; Laure Esterle; Michèle Garabédian; Frédéric Jehan
Journal:  Hum Genet       Date:  2009-02-15       Impact factor: 4.132
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