Literature DB >> 21179111

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

Qiaoli Li, Sara Sadowski, Jouni Uitto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 21179111      PMCID： PMC3357056          DOI： 10.1038/jid.2010.384

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


× No keyword cloud information.
  14 in total

1.  Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

Authors:  F Ringpfeil; M G Lebwohl; A M Christiano; J Uitto
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

2.  Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

Authors:  Attila Iliás; Zsolt Urbán; Thomas L Seidl; Olivier Le Saux; Emese Sinkó; Charles D Boyd; Balázs Sarkadi; András Váradi
Journal:  J Biol Chem       Date:  2002-03-05       Impact factor: 5.157

3.  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

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

Authors:  Q Li; L Török; L Kocsis; J Uitto
Journal:  Br J Dermatol       Date:  2010-05-11       Impact factor: 9.302

5.  Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Authors:  Nicolas Chassaing; Ludovic Martin; Sylvie Bourthoumieu; Patrick Calvas; Alain Hovnanian
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

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.  Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum.

Authors:  Ralf Zarbock; Doris Hendig; Christiane Szliska; Knut Kleesiek; Christian Götting
Journal:  Hum Mol Genet       Date:  2009-05-30       Impact factor: 6.150

8.  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

Review 9.  The dynamic nature of Bruch's membrane.

Authors:  J C Booij; D C Baas; J Beisekeeva; T G M F Gorgels; A A B Bergen
Journal:  Prog Retin Eye Res       Date:  2009-09-10       Impact factor: 21.198

10.  Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

Authors:  Jouni Uitto; Qiaoli Li; Qiujie Jiang
Journal:  J Invest Dermatol       Date:  2009-12-24       Impact factor: 8.551
View more
  4 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

Review 2.  Pseudoxanthoma elasticum.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2017-05-10       Impact factor: 4.123

3.  Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.

Authors:  Federica Boraldi; Francesco Demetrio Lofaro; Sonia Costa; Pasquale Moscarelli; Daniela Quaglino
Journal:  Front Med (Lausanne)       Date:  2020-01-23

4.  Angioid Streaks in Pseudoxanthoma Elasticum.

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.