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Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.

Okubo Y, Masuyama R, Iwanaga A, Koike Y, Kuwatsuka Y, Ogi T, Yamamoto Y, Endo Y, Tamura H, Utani A.

PLoS One. 2017 May 11;12(5):e0177375. doi: 10.1371/journal.pone.0177375. eCollection 2017.


Pseudoxanthoma elasticum.

Germain DP.

Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Review.


GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

De Vilder EY, Debacker J, Vanakker OM.

Int J Mol Sci. 2017 Jan 25;18(2). pii: E240. doi: 10.3390/ijms18020240. Review.


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

Jin DY, Vermeer C, Stafford DW, Tie JK.

J Invest Dermatol. 2016 Nov;136(11):2314-2317. doi: 10.1016/j.jid.2016.05.128. Epub 2016 Jul 6. No abstract available.


Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Tie JK, Carneiro JD, Jin DY, Martinhago CD, Vermeer C, Stafford DW.

Blood. 2016 Apr 14;127(15):1847-55. doi: 10.1182/blood-2015-10-677633. Epub 2016 Jan 12.


Structural and functional insights into enzymes of the vitamin K cycle.

Tie JK, Stafford DW.

J Thromb Haemost. 2016 Feb;14(2):236-47. doi: 10.1111/jth.13217. Epub 2016 Jan 29. Review.


Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.

Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, Scarpelli M, Racchini S, Offidani A.

Intractable Rare Dis Res. 2015 Aug;4(3):113-22. doi: 10.5582/irdr.2015.01014. Review.


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

De Vilder EY, Vanakker OM.

World J Clin Cases. 2015 Jul 16;3(7):556-74. doi: 10.12998/wjcc.v3.i7.556. Review.



Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF.

Expert Opin Orphan Drugs. 2014 Jun 1;2(6):567-577.


Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.

Jun KR, Ullmann R, Khan S, Layman LC, Kim HG.

Mol Cytogenet. 2014 Aug 19;7:52. doi: 10.1186/1755-8166-7-52. eCollection 2014.


Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.

J Invest Dermatol. 2015 Apr;135(4):992-8. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29.


A conformational investigation of propeptide binding to the integral membrane protein γ-glutamyl carboxylase using nanodisc hydrogen exchange mass spectrometry.

Parker CH, Morgan CR, Rand KD, Engen JR, Jorgenson JW, Stafford DW.

Biochemistry. 2014 Mar 11;53(9):1511-20. doi: 10.1021/bi401536m. Epub 2014 Feb 26.


The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.

Brampton C, Aherrahrou Z, Chen LH, Martin L, Bergen AA, Gorgels TG, Erdmann J, Schunkert H, Szabó Z, Váradi A, Le Saux O.

Am J Pathol. 2014 Jan;184(1):159-70. Erratum in: Am J Pathol. 2014 Mar;184(3):878. Erdfdi, Jeannette [corrected to Erdmann, Jeannette].


Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues.

Hosen MJ, Lamoen A, De Paepe A, Vanakker OM.

Scientifica (Cairo). 2012;2012:598262. doi: 10.6064/2012/598262. Epub 2012 Jul 25. Review.


Coordinated orphan disease research: yes, we can!

Vanakker OM.

Front Genet. 2013 Nov 1;4:207. doi: 10.3389/fgene.2013.00207. eCollection 2013. No abstract available.


Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification.

Li Q, Jiang Q, Uitto J.

Matrix Biol. 2014 Jan;33:23-8. doi: 10.1016/j.matbio.2013.06.003. Epub 2013 Jul 25. Review.


Paediatric pseudoxanthoma elasticum with cardiovascular involvement.

Li Q, Baker J, Kowalczyk J, Jiang Q, Uitto J, Schachner L.

Br J Dermatol. 2013 Nov;169(5):1148-51. doi: 10.1111/bjd.12462.


Mineralization/anti-mineralization networks in the skin and vascular connective tissues.

Li Q, Uitto J.

Am J Pathol. 2013 Jul;183(1):10-8. doi: 10.1016/j.ajpath.2013.03.002. Epub 2013 May 8. Review.


Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations.

Arányi T, Bacquet C, de Boussac H, Ratajewski M, Pomozi V, Fülöp K, Brampton CN, Pulaski L, Le Saux O, Váradi A.

Front Genet. 2013 Mar 11;4:27. doi: 10.3389/fgene.2013.00027. eCollection 2013.

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