Literature DB >> 1431233

Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.

A M Christiano1, M G Lebwohl, C D Boyd, J Uitto.   

Abstract

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Year:  1992        PMID： 1431233     DOI： 10.1111/1523-1747.ep12668156

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


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  15 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

Review 2.  [Pseudoxanthoma elasticum].

Authors:  M S Ladewig; C Götting; C Szliska; P C Issa; H-M Helb; I Bedenicki; H P N Scholl; F G Holz
Journal:  Ophthalmologe       Date:  2006-06       Impact factor: 1.059

3.  A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

Authors:  S van Soest; J Swart; N Tijmes; L A Sandkuijl; J Rommers; A A Bergen
Journal:  Genome Res       Date:  1997-08       Impact factor: 9.043

Review 4.  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

5.  New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

Authors:  Doris Hendig; Veronika Schulz; Jutta Eichgrün; Christiane Szliska; Christian Götting; Knut Kleesiek
Journal:  J Mol Med (Berl)       Date:  2004-11-10       Impact factor: 4.599

6.  A case of systemic pseudo-pseudoxanthoma elasticum with diverse symptomatology caused by long-term penicillamine use.

Authors:  A P Coatesworth; S J Darnton; R M Green; R M Cayton; G N Antonakopoulos
Journal:  J Clin Pathol       Date:  1998-02       Impact factor: 3.411

7.  A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Authors:  O Le Saux; K Beck; C Sachsinger; C Silvestri; C Treiber; H H Göring; E W Johnson; A De Paepe; F M Pope; I Pasquali-Ronchetti; L Bercovitch; A S Marais; D L Viljoen; S F Terry; C D Boyd
Journal:  Am J Hum Genet       Date:  2001-08-31       Impact factor: 11.025

Review 8.  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

Review 9.  Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.

Authors:  Qiaoli Li; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2012-11-15       Impact factor: 8.551

10.  The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.

Authors:  Qiaoli Li; Jouni Uitto
Journal:  J Mol Med (Berl)       Date:  2009-09-27       Impact factor: 4.599
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