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ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.

Katagiri S, Negishi Y, Mizobuchi K, Urashima M, Nakano T, Hayashi T.

J Ophthalmol. 2017;2017:1079687. doi: 10.1155/2017/1079687. Epub 2017 Aug 20.


Oral administration of pyrophosphate inhibits connective tissue calcification.

Dedinszki D, Szeri F, Kozák E, Pomozi V, Tőkési N, Mezei TR, Merczel K, Letavernier E, Tang E, Le Saux O, Arányi T, van de Wetering K, Váradi A.

EMBO Mol Med. 2017 Nov;9(11):1463-1470. doi: 10.15252/emmm.201707532.


ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype.

Miglionico R, Ostuni A, Armentano MF, Milella L, Crescenzi E, Carmosino M, Bisaccia F.

Cell Mol Biol Lett. 2017 Apr 4;22:7. doi: 10.1186/s11658-017-0036-2. eCollection 2017.


Pseudoxanthoma elasticum.

Germain DP.

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


Biophysical Approaches Facilitate Computational Drug Discovery for ATP-Binding Cassette Proteins.

Molinski SV, Bozóky Z, Iram SH, Ahmadi S.

Int J Med Chem. 2017;2017:1529402. doi: 10.1155/2017/1529402. Epub 2017 Mar 19. Review.


Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Boraldi F, Costa S, Rabacchi C, Ciani M, Vanakker O, Quaglino D.

Mol Genet Metab Rep. 2014 Nov 16;1:477-482. eCollection 2014.


Recent advances in understanding hepatic drug transport.

Stieger B, Hagenbuch B.

F1000Res. 2016 Oct 6;5:2465. eCollection 2016. Review.


Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies.

Aerts C, De Keyser C, Leys A.

GMS Ophthalmol Cases. 2011 Sep 15;1:Doc03. doi: 10.3205/oc000003. eCollection 2011.


Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association.

Venkatachalam K, Chennamsetty K.

Indian Dermatol Online J. 2016 Mar-Apr;7(2):103-6. doi: 10.4103/2229-5178.178078.


The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.

De Vilder EY, Hosen MJ, Vanakker OM.

Biomed Res Int. 2015;2015:648569. doi: 10.1155/2015/648569. Epub 2015 Aug 18. Review.


Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.

Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G.

J Invest Dermatol. 2015 May;135(5):1294-1302. doi: 10.1038/jid.2015.10. Epub 2015 Jan 23. Erratum in: J Invest Dermatol. 2015 Sep;135(9):2338.



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

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


The genetics of human skin disease.

DeStefano GM, Christiano AM.

Cold Spring Harb Perspect Med. 2014 Oct 1;4(10). pii: a015172. doi: 10.1101/cshperspect.a015172. Review.


Repositioning of Tyrosine Kinase Inhibitors as Antagonists of ATP-Binding Cassette Transporters in Anticancer Drug Resistance.

Wang YJ, Zhang YK, Kathawala RJ, Chen ZS.

Cancers (Basel). 2014 Sep 29;6(4):1925-52. doi: 10.3390/cancers6041925. Review.


Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.

Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF.

Retina. 2015 Jan;35(1):48-57. doi: 10.1097/IAE.0000000000000263.


Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.

PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014.


Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissue mineralization.

Boraldi F, Bartolomeo A, Li Q, Uitto J, Quaglino D.

J Invest Dermatol. 2014 Jul;134(7):1855-1861. doi: 10.1038/jid.2014.88. Epub 2014 Feb 13.


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].


ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.

Jansen RS, Küçükosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20206-11. doi: 10.1073/pnas.1319582110. Epub 2013 Nov 25.


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