Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Elastin

Das vom ELN-Gen kodierte Elastin ist ein wichtiger Bestandteil elastischer Fasern. Beim Williams-Beuren-Syndrome, einem autosomal dominanten Mikrodeletionssyndrom, ist das Elastin zusammen mit etwa 28 weiteren Gene deletiert.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Williams-Beuren-Syndrome
ELN

Referenzen:

1.

Urbán Z et al. (1999) Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.

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2.

Boeckel T et al. (1999) A new mutation in the elastin gene causing supravalvular aortic stenosis.

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3.

Urbán Z et al. (2000) Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

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4.

Metcalfe K et al. (2000) Elastin: mutational spectrum in supravalvular aortic stenosis.

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5.

Urbán Z et al. (2001) Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

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6.

Urbán Z et al. (2002) Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

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7.

Duba HC et al. (2002) The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

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8.

Koch A et al. (2003) Spectrum of arterial obstructions caused by one elastin gene point mutation.

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9.

REIDY JP et al. (1963) Cutis hyperelastica (Ehlers-Danlos) and cutis laxa.

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10.

Faury G et al. (2003) Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.

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11.

Urban Z et al. (2005) Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

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12.

Szabo Z et al. (2006) Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

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13.

Lee SH et al. (2007) Antielastin autoimmunity in tobacco smoking-induced emphysema.

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14.

Uitto J et al. (1991) Molecular biology and pathology of human elastin.

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15.

Graul-Neumann LM et al. (2008) Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

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16.

Tromp G et al. (1991) A to G polymorphism in ELN gene.

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17.

Micale L et al. (2010) Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

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18.

Fazio MJ et al. (1991) Human elastin gene: new evidence for localization to the long arm of chromosome 7.

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19.

Sephel GC et al. (1989) Heterogeneity of elastin expression in cutis laxa fibroblast strains.

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20.

Indik Z et al. (1987) Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences.

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21.

Indik Z et al. (1987) Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.

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22.

Emanuel BS et al. (1985) Chromosomal localization of the human elastin gene.

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23.

Beighton P et al. (1972) The dominant and recessive forms of cutis laxa.

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24.

Rosenbloom J et al. (1984) Elastin: relation of protein and gene structure to disease.

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25.

Ewart AK et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

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26.

Wydner KS et al. (1994) Use of an intron polymorphism to localize the tropoelastin gene to mouse chromosome 5 in a region of linkage conservation with human chromosome 7.

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27.

Zhang MC et al. (1995) Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain.

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28.

Corbett E et al. (1994) Congenital cutis laxa with a dominant inheritance and early onset emphysema.

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29.

Curran ME et al. (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

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30.

Ewart AK et al. (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

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31.

Morris CA et al. (1993) Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.

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32.

Olson TM et al. (1993) Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

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33.

Foster K et al. (1993) Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

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34.

Ewart AK et al. (1993) A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

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35.

Olson TM et al. (1995) A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

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36.

Pérez Jurado LA et al. (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

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37.

Li DY et al. (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

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38.

Tassabehji M et al. (1997) Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

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39.

Tassabehji M et al. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

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40.

Li DY et al. (1998) Elastin is an essential determinant of arterial morphogenesis.

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41.

Li DY et al. (1998) Novel arterial pathology in mice and humans hemizygous for elastin.

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42.

Zhang MC et al. (1999) Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

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