Literature DB >> 8149653

Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.

M C Raybould1, A J Birley, C Moss, M Hultén, C M McKeown.   

Abstract

An intragenic elastin Hinf I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene rearrangements, but none were detected.

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Year:  1994        PMID： 8149653     DOI： 10.1111/j.1399-0004.1994.tb03990.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

Review 1.  [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

2.  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 3.  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 4.  Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Authors:  N Chassaing; L Martin; P Calvas; M Le Bert; A Hovnanian
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

Review 5.  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 6.  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

7.  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

8.  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
  8 in total

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