Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman, +9

Nature Genetics

Somatic VariantNatural SciencesGeneticsProtein X-ray CrystallographyDna Replication +5

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch, +10

Nature Genetics

BiologyNatural SciencesGeneticsDna ReplicationMolecular Biology +3

Pseudoxanthoma elasticum: Mutations in the <i>MRP6</i> gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Franziska Ringpfeil, Mark Lebwohl, Angela M. Christiano, +1

Proceedings of the National Academy of Sciences

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

Marcel Kool, Mariëtta L. van der Linden, Marcel de Haas, +2

PubMed

ImmunologyPathologyMrp6 ProteinCancer BiologyTumor Biology +15

Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

Martin G. Belinsky, Zhe‐Sheng Chen, Irina Shchaveleva, +2

PubMed

Proteinlipid InteractionPharmaceutical ScienceDrug TargetMrp6 Expression VectorAntibiotic Resistance +15

Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)

Attila Iliás, Zsolt Urbán, Thomas L. Seidl, +5

Journal of Biological Chemistry

Proof of “disease causing” mutation

RGH Cotton, C. R. Scriver

Human Mutation

Genetic DisorderGeneticsPathogenesisPathologyGermline Genetics +4

MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors

George L. Scheffer, Adriana C L M Pijnenborg, Jan Wijnholds, +2

Laboratory Investigation

Normal Human TissuesEngineeringMedical ImagingCancer DetectionMedicine +7

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Olivier Le Saux, Konstanze Beck, Christine Sachsinger, +10

The American Journal of Human Genetics

Abcc6 MutationsNatural SciencesGeneticsDna ReplicationMolecular Biology +4

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Berthold Struk, Li Cai, Stéphanie Zäch, +17

Journal of Molecular Medicine

Molecular PhysiologyNatural SciencesMembrane TransportMolecular BiologyMembrane Biology +8