Literature DB >> 2808851

Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors.

F Rongioletti1, R Bertamino, A Rebora.   

Abstract

A patient with generalized cutis laxa-like pseudoxanthoma elasticum was found to have a congenital deficiency of vitamin K-dependent coagulation factors II, VII, IX, and X. This association may not be fortutious and may define a particular subset of pseudoxanthoma elasticum with an autosomal recessive inheritance and the clinical features of generalized cutis laxa.

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Year:  1989        PMID： 2808851     DOI： 10.1016/s0190-9622(89)70320-0

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  10 in total

1.  Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme.

Authors:  Da-Yun Jin; Cees Vermeer; Darrel W Stafford; Jian-Ke Tie
Journal:  J Invest Dermatol       Date:  2016-07-06       Impact factor: 8.551

Review 2.  ABCC6 as a target in pseudoxanthoma elasticum.

Authors:  András Váradi; Zalán Szabó; Viola Pomozi; Hugues de Boussac; Krisztina Fülöp; Tamás Arányi
Journal:  Curr Drug Targets       Date:  2011-05       Impact factor: 3.465

3.  Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

Authors:  Qiaoli Li; Leon J Schurgers; Ann C M Smith; Maria Tsokos; Jouni Uitto; Edward W Cowen
Journal:  Am J Pathol       Date:  2008-12-30       Impact factor: 4.307

4.  Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Authors:  Qiaoli Li; Dorothy K Grange; Nicole L Armstrong; Alison J Whelan; Maria Y Hurley; Mark A Rishavy; Kevin W Hallgren; Kathleen L Berkner; Leon J Schurgers; Qiujie Jiang; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2008-09-18       Impact factor: 8.551

5.  Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model.

Authors:  Alain Hovnanian
Journal:  J Mol Med (Berl)       Date:  2010-02-11       Impact factor: 4.599

6.  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

Review 7.  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

8.  Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

Authors:  Ariana Kariminejad; Bita Bozorgmehr; Abdolhamid Najafi; Atefeh Khoshaeen; Maryam Ghalandari; Hossein Najmabadi; Mohamad H Kariminejad; Olivier M Vanakker; Mohammad J Hosen; Fransiska Malfait; Daniela Quaglino; Ralph J Florijn; Arthur A B Bergen; Raoul C Hennekam
Journal:  J Invest Dermatol       Date:  2014-04-16       Impact factor: 8.551

Review 9.  From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

Authors:  Eva Yg De Vilder; Olivier M Vanakker
Journal:  World J Clin Cases       Date:  2015-07-16       Impact factor: 1.337

10.  The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study.

Authors:  Juan Luis Carrillo-Linares; María Inmaculada García-Fernández; María José Morillo; Purificación Sánchez; José Rioja; Francisco Javier Barón; María José Ariza; Dominic J Harrington; David Card; Federica Boraldi; Daniela Quaglino; Pedro Valdivielso
Journal:  Front Med (Lausanne)       Date:  2018-04-16
  10 in total

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