Literature DB >> 20491760

Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.

Q Li, L Török, L Kocsis, J Uitto.   

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Year:  2010        PMID： 20491760      PMCID： PMC2933322          DOI： 10.1111/j.1365-2133.2010.09856.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  9 in total

1.  Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.

Authors:  Franziska Ringpfeil; Kelly McGuigan; Lauren Fuchsel; Heidi Kozic; Margarita Larralde; Mark Lebwohl; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2006-04       Impact factor: 8.551

2.  Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

Authors:  Arthur A B Bergen
Journal:  J Invest Dermatol       Date:  2006-04       Impact factor: 8.551

3.  Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.

Authors:  Beata Kieć-Wilk; Andrzej Surdacki; Aldona Dembińska-Kieć; Joanna Michalowska; Maria Stachura-Dereń; Jacek S Dubiel; Dariusz Dudek; Tomasz Rakowski; Grzegorz Szastak; Marek Bodzioch; Charalampos Aslanidis; Gerd Schmitz
Journal:  Int J Cardiol       Date:  2006-07-18       Impact factor: 4.164

4.  Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

Authors:  D P Germain; J Perdu; V Remones; X Jeunemaitre
Journal:  Biochem Biophys Res Commun       Date:  2000-08-02       Impact factor: 3.575

5.  Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.

Authors:  Mieke D Trip; Yvo M Smulders; Jurgen J Wegman; Xiaofeng Hu; Jolanda M A Boer; Jacoline B ten Brink; Aeilko H Zwinderman; John J P Kastelein; Edith J M Feskens; Arthur A B Bergen
Journal:  Circulation       Date:  2002-08-13       Impact factor: 29.690

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.  The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.

Authors:  Gabriella Köblös; Hajnalka Andrikovics; Zoltán Prohászka; Attila Tordai; András Váradi; Tamás Arányi
Journal:  Genet Test Mol Biomarkers       Date:  2010-02

8.  Pseudoxanthoma elasticum is a metabolic disease.

Authors:  Qiujie Jiang; Masayuki Endo; Florian Dibra; Krystle Wang; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2008-08-14       Impact factor: 8.551

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
  9 in total
  10 in total

Review 1.  Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

Authors:  Jouni Uitto; Lionel Bercovitch; Sharon F Terry; Patrick F Terry
Journal:  Am J Med Genet A       Date:  2011-06-10       Impact factor: 2.802

2.  Pseudoxanthoma elasticum: report of two cases.

Authors:  Gabriela Franco Marques; Sadamitsu Nakandakari; Ana Paula Cota Pinto Coelho; Maria Helena Mazzi Freire Nigro; Josmar Sabage
Journal:  An Bras Dermatol       Date:  2014 Sep-Oct       Impact factor: 1.896

3.  Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.

Authors:  Qiaoli Li; Sara Sadowski; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2010-12-23       Impact factor: 8.551

4.  Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?

Authors:  Jennifer LaRusso; Qiaoli Li; Jouni Uitto
Journal:  J Dtsch Dermatol Ges       Date:  2011-03-16       Impact factor: 5.584

5.  Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.

Authors:  Qiujie Jiang; Qiaoli Li; Alix E Grand-Pierre; Leon J Schurgers; Jouni Uitto
Journal:  Cell Cycle       Date:  2011-02-15       Impact factor: 4.534

Review 6.  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

7.  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

8.  Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ).

Authors:  Qiaoli Li; Joshua Kingman; John P Sundberg; Michael A Levine; Jouni Uitto
Journal:  Oncotarget       Date:  2018-07-20

9.  Angioid Streaks in Pseudoxanthoma Elasticum.

Authors:  Rahaf A Mandura; Rwan E Radi
Journal:  Cureus       Date:  2021-06-17

Review 10.  Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.

Authors:  Hongbin Luo; Qiaoli Li; Yi Cao; Jouni Uitto
Journal:  J Clin Med       Date:  2020-12-31       Impact factor: 4.241
  10 in total

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