Literature DB >> 29487417

Clinical utility gene card: for pseudoxanthoma elasticum.

Anne Legrand1,2,3, Karelle Benistan4, Jean Michael Mazzella5, Salma Adham5, Michael Frank5, Xavier Jeunemaitre5,6,7, Juliette Albuisson5,6,7.   

Abstract

Mesh：

Year:  2018        PMID： 29487417      PMCID： PMC5974343          DOI： 10.1038/s41431-017-0090-2

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  Mutations in ABCC6 cause pseudoxanthoma elasticum.

Authors:  A A Bergen; A S Plomp; E J Schuurman; S Terry; M Breuning; H Dauwerse; J Swart; M Kool; S van Soest; F Baas; J B ten Brink; P T de Jong
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Authors:  Nico Ruf; Birgit Uhlenberg; Robert Terkeltaub; Peter Nürnberg; Frank Rutsch
Journal:  Hum Mutat       Date:  2005-01       Impact factor: 4.878

3.  Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum.

Authors:  Qiaoli Li; Jennifer Larusso; Alix E Grand-Pierre; Jouni Uitto
Journal:  Clin Transl Sci       Date:  2009-12       Impact factor: 4.689

4.  Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Authors:  Yvonne Nitschke; Geneviève Baujat; Ulrike Botschen; Tanja Wittkampf; Marcel du Moulin; Jacqueline Stella; Martine Le Merrer; Geneviève Guest; Karen Lambot; Marie-Frederique Tazarourte-Pinturier; Nicolas Chassaing; Olivier Roche; Ilse Feenstra; Karen Loechner; Charu Deshpande; Samuel J Garber; Rashmi Chikarmane; Beat Steinmann; Tatevik Shahinyan; Loreto Martorell; Justin Davies; Wendy E Smith; Stephen G Kahler; Mignon McCulloch; Elizabeth Wraige; Lourdes Loidi; Wolfgang Höhne; Ludovic Martin; Smaïl Hadj-Rabia; Robert Terkeltaub; Frank Rutsch
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

5.  A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Authors:  O Le Saux; K Beck; C Sachsinger; C Silvestri; C Treiber; H H Göring; E W Johnson; A De Paepe; F M Pope; I Pasquali-Ronchetti; L Bercovitch; A S Marais; D L Viljoen; S F Terry; C D Boyd
Journal:  Am J Hum Genet       Date:  2001-08-31       Impact factor: 11.025

6.  Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

Authors:  F Ringpfeil; A Nakano; J Uitto; L Pulkkinen
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

7.  Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

Authors:  Frank Rutsch; Petra Böyer; Yvonne Nitschke; Nico Ruf; Bettina Lorenz-Depierieux; Tanja Wittkampf; Gabriele Weissen-Plenz; Rudolf-Josef Fischer; Zulf Mughal; John W Gregory; Justin H Davies; Chantal Loirat; Tim M Strom; Dirk Schnabel; Peter Nürnberg; Robert Terkeltaub
Journal:  Circ Cardiovasc Genet       Date:  2008-12

8.  ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.

Authors:  Robert S Jansen; Suzanne Duijst; Sunny Mahakena; Daniela Sommer; Flóra Szeri; András Váradi; Astrid Plomp; Arthur A Bergen; Ronald P J Oude Elferink; Piet Borst; Koen van de Wetering
Journal:  Arterioscler Thromb Vasc Biol       Date:  2014-06-26       Impact factor: 8.311

9.  PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Authors:  Jouni Uitto; Qiujie Jiang; András Váradi; Lionel G Bercovitch; Sharon F Terry
Journal:  Expert Opin Orphan Drugs       Date:  2014-06-01       Impact factor: 0.694

Review 10.  GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

Authors:  Eva Y G De Vilder; Jens Debacker; Olivier M Vanakker
Journal:  Int J Mol Sci       Date:  2017-01-25       Impact factor: 5.923
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