Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ATP-Bindungskassette, Unterfamilie C (CFTR/MRP), Glied 6

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Generalisierte arterielle Verkalkung bei Kleinkindern 2
ABCC6

Referenzen:

1.

Belinsky MG et al. (1999) MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.

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2.

Klein I et al. (1999) An inventory of the human ABC proteins.

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3.

Bacchelli B et al. (1999) Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).

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4.

Cai L et al. (2000) A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.

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5.

Ringpfeil F et al. (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

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6.

Le Saux O et al. (2000) Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

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7.

Bergen AA et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum.

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8.

Germain DP et al. (2000) Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

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9.

Ringpfeil F et al. (2001) Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

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10.

Sherer DW et al. (2001) Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.

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11.

Meloni I et al. (2001) Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

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12.

Germain DP et al. (2001) Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene.

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13.

Ringpfeil F et al. (2001) Molecular genetics of pseudoxanthoma elasticum.

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14.

Le Saux O et al. (2001) A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

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15.

Pulkkinen L et al. (2001) Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

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16.

Iliás A et al. (2002) Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

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17.

Trip MD et al. (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.

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18.

Le Saux O et al. (2002) Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

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19.

Belinsky MG et al. (2002) Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).

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20.

Hu X et al. (2003) ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

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21.

Hu X et al. (2003) Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.

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22.

Sinkó E et al. (2003) Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.

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23.

Chassaing N et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum.

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24.

Plomp AS et al. (2004) Does autosomal dominant pseudoxanthoma elasticum exist?

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25.

Hu X et al. (2004) Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

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26.

Gorgels TG et al. (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.

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27.

Beck K et al. (2005) Analysis of ABCC6 (MRP6) in normal human tissues.

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28.

Chassaing N et al. (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

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29.

Miksch S et al. (2005) Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

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30.

Klement JF et al. (2005) Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.

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31.

Matsuzaki Y et al. (2005) Tissue-specific expression of the ABCC6 gene.

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32.

Jiang Q et al. (2006) Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.

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33.

Bergen AA et al. (2006) Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.

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34.

Le Saux O et al. (2006) Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.

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35.

Jiang Q et al. (2006) Pseudoxanthoma elasticum: a metabolic disease?

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36.

Ratajewski M et al. (2006) Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor.

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37.

Jiang Q et al. (2007) Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors.

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38.

Meng H et al. (2007) Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics.

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39.

Pfendner EG et al. (2007) Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

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40.

Aherrahrou Z et al. (2008) An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice.

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41.

Jiang Q et al. (2009) Pseudoxanthoma elasticum is a metabolic disease.

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42.

Li Q et al. (2009) Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

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43.

Ratajewski M et al. (2008) The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors.

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44.

Torrington M et al. (1991) Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum.

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45.

Plomp AS et al. (2009) Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

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46.

Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

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47.

Costrop LM et al. (2010) Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

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48.

Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

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49.

Longhurst TJ et al. (1996) The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line.

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50.

van Soest S et al. (1997) A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

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51.

Kuss BJ et al. (1998) ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors.

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52.

Kool M et al. (1999) Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

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