Literature DB >> 16778810

Pseudoxanthoma elasticum: a metabolic disease?

Qiujie Jiang1, Jouni Uitto.   

Abstract

Pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, eyes, and cardiovascular system, is caused by mutations in the ABCC6/MRP6 expressed primarily in the liver. A question has arisen regarding the pathomechanism of PXE, particularly the "metabolic" versus the "PXE cell" hypotheses. Le Saux et al. have now provided partial support for the notion that PXE is primarily a metabolic disorder.

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Year:  2006        PMID： 16778810     DOI： 10.1038/sj.jid.5700267

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


  17 in total

1.  Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model.

Authors:  Alain Hovnanian
Journal:  J Mol Med (Berl)       Date:  2010-02-11       Impact factor: 4.599

2.  DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter.

Authors:  Vanessa Douet; Matthew B Heller; Olivier Le Saux
Journal:  Biochem Biophys Res Commun       Date:  2006-12-28       Impact factor: 3.575

Review 3.  Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Authors:  Michael P Whyte; S Deepak Amalnath; William H McAlister; Marc D McKee; Deborah J Veis; Margaret Huskey; Shenghui Duan; Vinieth N Bijanki; Suhas Alur; Steven Mumm
Journal:  Bone       Date:  2019-12-13       Impact factor: 4.398

Review 4.  Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases.

Authors:  Zhe-Sheng Chen; Amit K Tiwari
Journal:  FEBS J       Date:  2011-08-01       Impact factor: 5.542

5.  Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.

Authors:  Qiujie Jiang; Reid Oldenburg; Satoru Otsuru; Alix E Grand-Pierre; Edwin M Horwitz; Jouni Uitto
Journal:  Am J Pathol       Date:  2010-02-25       Impact factor: 4.307

Review 6.  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

7.  Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).

Authors:  Qiujie Jiang; Florian Dibra; Michael D Lee; Reid Oldenburg; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2010-01-21       Impact factor: 8.551

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.  Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-).

Authors:  Qiaoli Li; Qiujie Jiang; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2007-11-29       Impact factor: 8.551
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