Literature DB >> 23154625

Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.

Qiaoli Li1, Jouni Uitto.   

Abstract

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Year:  2012        PMID： 23154625      PMCID： PMC4006979          DOI： 10.1038/skinbio.2012.5

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  45 in total

1.  Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Authors:  Olivier M Vanakker; Ludovic Martin; Dealba Gheduzzi; Bart P Leroy; Bart L Loeys; Veronica I Guerci; Dirk Matthys; Sharon F Terry; Paul J Coucke; Ivonne Pasquali-Ronchetti; Anne De Paepe
Journal:  J Invest Dermatol       Date:  2006-11-16       Impact factor: 8.551

2.  Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

Authors:  Sara Miksch; Amanda Lumsden; Ulf P Guenther; Dorothee Foernzler; Stéphanie Christen-Zäch; Carol Daugherty; Raj Kumar S Ramesar; Mark Lebwohl; Daniel Hohl; Kenneth H Neldner; Klaus Lindpaintner; Robert I Richards; Berthold Struk
Journal:  Hum Mutat       Date:  2005-09       Impact factor: 4.878

3.  Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.

Authors:  Qiujie Jiang; Qiaoli Li; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2007-02-01       Impact factor: 8.551

4.  Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ).

Authors:  Qiujie Jiang; Jouni Uitto
Journal:  Exp Dermatol       Date:  2012-09       Impact factor: 3.960

5.  Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum.

Authors:  Doris Hendig; Veronika Schulz; Marius Arndt; Christiane Szliska; Knut Kleesiek; Christian Götting
Journal:  Clin Chem       Date:  2005-12-29       Impact factor: 8.327

Review 6.  Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Authors:  N Chassaing; L Martin; P Calvas; M Le Bert; A Hovnanian
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

Review 7.  Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Authors:  Qiaoli Li; Qiujie Jiang; Ellen Pfendner; András Váradi; Jouni Uitto
Journal:  Exp Dermatol       Date:  2008-10-22       Impact factor: 3.960

8.  Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.

Authors:  Jennifer LaRusso; Qiujie Jiang; Qiaoli Li; Jouni Uitto
Journal:  Exp Dermatol       Date:  2007-11-02       Impact factor: 3.960

9.  Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Authors:  Ellen G Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel G Bercovitch
Journal:  J Med Genet       Date:  2007-07-06       Impact factor: 6.318

10.  Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?

Authors:  Piet Borst; Koen van de Wetering; Reinier Schlingemann
Journal:  Cell Cycle       Date:  2008-03-31       Impact factor: 4.534
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  1 in total

Review 1.  Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.

Authors:  Barbara Marconi; Ivan Bobyr; Anna Campanati; Elisa Molinelli; Veronica Consales; Valerio Brisigotti; Marina Scarpelli; Stefano Racchini; Annamaria Offidani
Journal:  Intractable Rare Dis Res       Date:  2015-08
  1 in total

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