Molecular genetics of pseudoxanthoma elasticum: A metabolic disorder at the environment-genome interface?

Trends in Molecular Medicine

Volumn 7, Issue 1, 2001, Pages 13-17

  Uitto, Jouni ^a   Pulkkinen, Leena ^a   Ringpfeil, Franziska ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; FIBRILLIN;

CHROMOSOME 16; CHROMOSOME ARM; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; ELASTIC FIBER; GENE MUTATION; GENETIC LINKAGE; HUMAN; METABOLIC DISORDER; MORBIDITY; MORTALITY; PSEUDOXANTHOMA ELASTICUM; REVIEW;

EID: 0034478001     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1471-4914(00)01869-4     Document Type: Review

References (27)

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6. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
7. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
8. Pseudoxanthoma elasticum maps to an 820kb region of the p 13.1 region of chromosome 16
9. A 500kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: High-resolution mapping and genomic structure
10. Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
11. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
12. Mutations in ABCC6 cause pseudoxanthoma elasticum
13. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
14. MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
15. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells
16. The multidrug resistance protein family
17. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
18. Transport function and hepatocellular localization of mrp6 in rat liver
19. Molecular mechanisms of cutaneous aging: Connective tissue alterations in the dermis
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21. Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations
22. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)
23. Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome
24. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome
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27. Functional multidrug resistance protein (MRP1) lacking the N-terminal transmembrane domain