Literature DB >> 23572048

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.

Caroline Silvério Faria1, Qiaoli Li, Haitao Guo, Jouni Uitto, Sylvia Satomi Takeno, Marilia de Arruda Cardoso Smith, Dertia Villalba Freire-Maia.   

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Year:  2013        PMID： 23572048      PMCID： PMC4006978          DOI： 10.2340/00015555-1570

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  10 in total

1.  Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.

Authors:  S Christen-Zäch; M Huber; B Struk; K Lindpaintner; F Munier; R G Panizzon; D Hohl
Journal:  Br J Dermatol       Date:  2006-07       Impact factor: 9.302

2.  Pseudoxanthoma elasticum.

Authors:  K H Neldner
Journal:  Clin Dermatol       Date:  1988 Jan-Mar       Impact factor: 3.541

Review 3.  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

4.  Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum.

Authors:  Qiaoli Li; Jennifer Larusso; Alix E Grand-Pierre; Jouni Uitto
Journal:  Clin Transl Sci       Date:  2009-12       Impact factor: 4.689

5.  Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Authors:  Yvonne Nitschke; Geneviève Baujat; Ulrike Botschen; Tanja Wittkampf; Marcel du Moulin; Jacqueline Stella; Martine Le Merrer; Geneviève Guest; Karen Lambot; Marie-Frederique Tazarourte-Pinturier; Nicolas Chassaing; Olivier Roche; Ilse Feenstra; Karen Loechner; Charu Deshpande; Samuel J Garber; Rashmi Chikarmane; Beat Steinmann; Tatevik Shahinyan; Loreto Martorell; Justin Davies; Wendy E Smith; Stephen G Kahler; Mignon McCulloch; Elizabeth Wraige; Lourdes Loidi; Wolfgang Höhne; Ludovic Martin; Smaïl Hadj-Rabia; Robert Terkeltaub; Frank Rutsch
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

6.  Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.

Authors:  Jennifer Larusso; Franziska Ringpfeil; Jouni Uitto
Journal:  Clin Transl Sci       Date:  2010-12       Impact factor: 4.689

7.  Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.

Authors:  Q Li; W Schumacher; D Jablonski; D Siegel; J Uitto
Journal:  Br J Dermatol       Date:  2012-04-04       Impact factor: 9.302

8.  Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

Authors:  Ludovic Martin; Frédéric Maître; Pierre Bonicel; Patrick Daudon; Christophe Verny; Dominique Bonneau; Olivier Le Saux; Nicolas Chassaing
Journal:  Arch Dermatol       Date:  2008-03

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: molecular genetics and putative pathomechanisms.

Authors:  Jouni Uitto; Qiaoli Li; Qiujie Jiang
Journal:  J Invest Dermatol       Date:  2009-12-24       Impact factor: 8.551
  10 in total
  2 in total

1.  A case of pseudoxantoma elasticum.

Authors:  Duriye Deniz Demirseren; Nagihan Ugurlu; Aysegul Arman; Selma Emre; Sibel Orhun Yavuz; Ahmet Metin
Journal:  J Ocul Biol Dis Infor       Date:  2013-05-05

2.  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
  2 in total

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