Literature DB >> 28340679

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.

Jouni Uitto1, Qiaoli Li2, Koen van de Wetering2, András Váradi3, Sharon F Terry4.   

Abstract

Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders.
Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28340679      PMCID： PMC5831331          DOI： 10.1016/j.jid.2016.12.014

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


  39 in total

1.  Treatment with pyrophosphate inhibits uremic vascular calcification.

Authors:  W Charles O'Neill; Koba A Lomashvili; Hartmut H Malluche; Marie-Claude Faugere; Bruce L Riser
Journal:  Kidney Int       Date:  2010-12-01       Impact factor: 10.612

2.  Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.

Authors:  John F Klement; Yasushi Matsuzaki; Qiu-Jie Jiang; Joseph Terlizzi; Hae Young Choi; Norihiro Fujimoto; Kehua Li; Leena Pulkkinen; David E Birk; John P Sundberg; Jouni Uitto
Journal:  Mol Cell Biol       Date:  2005-09       Impact factor: 4.272

Review 3.  Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

Authors:  J Uitto; L Pulkkinen; F Ringpfeil
Journal:  Trends Mol Med       Date:  2001-01       Impact factor: 11.951

4.  Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

Authors:  Qiaoli Li; Joshua Kingman; Koen van de Wetering; Sami Tannouri; John P Sundberg; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2017-01-19       Impact factor: 8.551

5.  The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.

Authors:  Qiaoli Li; John P Sundberg; Michael A Levine; Sharon F Terry; Jouni Uitto
Journal:  Cell Cycle       Date:  2015       Impact factor: 4.534

6.  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

7.  Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).

Authors:  Jennifer LaRusso; Qiaoli Li; Qiujie Jiang; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2009-01-01       Impact factor: 8.551

8.  ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.

Authors:  Robert S Jansen; Aslı Küçükosmanoglu; Marcel de Haas; Sunny Sapthu; Jon Andoni Otero; Ilse E M Hegman; Arthur A B Bergen; Theo G M F Gorgels; P Borst; Koen van de Wetering
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-25       Impact factor: 11.205

9.  Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.

Authors:  Liang Jin; Qiujie Jiang; Zhengsheng Wu; Changxia Shao; Yong Zhou; Luting Yang; Jouni Uitto; Gang Wang
Journal:  J Invest Dermatol       Date:  2015-01-23       Impact factor: 8.551

10.  Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene.

Authors:  Qiaoli Li; C Herbert Pratt; Louise A Dionne; Heather Fairfield; Son Yong Karst; John P Sundberg; Jouni Uitto
Journal:  PLoS One       Date:  2014-12-05       Impact factor: 3.240
View more
  17 in total

Review 1.  Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

Authors:  Qiaoli Li; Koen van de Wetering; Jouni Uitto
Journal:  Am J Pathol       Date:  2018-11-07       Impact factor: 4.307

Review 2.  PXE, a Mysterious Inborn Error Clarified.

Authors:  Piet Borst; András Váradi; Koen van de Wetering
Journal:  Trends Biochem Sci       Date:  2018-11-13       Impact factor: 13.807

3.  Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.

Authors:  Qiaoli Li; Vivek M Philip; Timothy M Stearns; Jason A Bubier; Benjamin L King; Benjamin E Low; Michael V Wiles; Amir Hossein Saeidian; Beth A Sundberg; Jouni Uitto; John P Sundberg
Journal:  J Invest Dermatol       Date:  2019-06-15       Impact factor: 8.551

4.  Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.

Authors:  Jianhe Huang; Adam E Snook; Jouni Uitto; Qiaoli Li
Journal:  J Invest Dermatol       Date:  2019-01-11       Impact factor: 8.551

5.  Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE.

Authors:  Jingyi Zhao; Joshua Kingman; John P Sundberg; Jouni Uitto; Qiaoli Li
Journal:  J Invest Dermatol       Date:  2017-06-23       Impact factor: 8.551

6.  Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.

Authors:  J M Ebran; L Martin; N Navasiolava; M Ferre; D Milea; S Leruez
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-02-26       Impact factor: 3.117

7.  A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum.

Authors:  Ida Joely Jacobs; Diana Li; Mattias E Ivarsson; Jouni Uitto; Qiaoli Li
Journal:  Exp Dermatol       Date:  2021-02-01       Impact factor: 3.960

Review 8.  Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.

Authors:  Hongbin Luo; Masoomeh Faghankhani; Yi Cao; Jouni Uitto; Qiaoli Li
Journal:  J Invest Dermatol       Date:  2020-12-17       Impact factor: 8.551

Review 9.  ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.

Authors:  Briana K Shimada; Viola Pomozi; Janna Zoll; Sheree Kuo; Ludovic Martin; Olivier Le Saux
Journal:  Int J Mol Sci       Date:  2021-04-27       Impact factor: 5.923

10.  Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

Authors:  Qiaoli Li; Jianhe Huang; Anthony B Pinkerton; Jose Luis Millan; Bertrand D van Zelst; Michael A Levine; John P Sundberg; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2018-08-18       Impact factor: 8.551
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.