Mutations in the lysyl oxidase gene not associated with intracranial aneurysm in central European families
Copyright 2004 S. Karger AG, Basel.
BACKGROUND: Lysyl oxidase is a promising candidate gene for a mutation search in intracranial aneurysm families because (a) it controls the processing, cross-linking and maturation of collagen and elastin fibers in the blood vessel wall, (b) its expression levels and activity are altered in different animal models of aneurysm pathogenesis, and (c) it is encoded within the chromosome 5q22-31 region of suggestive linkage to intracranial aneurysms.
METHODS: We have performed genomic sequencing of all 7 exons including the intron-exon splice sites and of the putative promoter region for lysyl oxidase in 25 patients from intracranial aneurysm multiplex families resident in Central Europe.
RESULTS: We observed 4 genetic variants including 2 novel polymorphisms, 1 in the noncoding sequence of exon 7 and the other upstream from the lysyl oxidase promoter. None of these single nucleotide polymorphisms showed an allelic association or cosegregation with intracranial aneurysm in the families.
CONCLUSIONS: Genetic variants in the lysyl oxidase gene do not appear to be a major factor in the etiology of intracranial aneurysms in Central Europe.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2004 |
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| Erschienen: |
2004 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:18 |
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| Enthalten in: |
Cerebrovascular diseases (Basel, Switzerland) - 18(2004), 3 vom: 23., Seite 189-93 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Hofer, Anne [VerfasserIn] |
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| Themen: |
5Z93L87A1R |
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| Anmerkungen: |
Date Completed 23.11.2004 Date Revised 21.11.2013 published: Print-Electronic Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM149563973 |
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| 100 | 1 | |a Hofer, Anne |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Mutations in the lysyl oxidase gene not associated with intracranial aneurysm in central European families |
| 264 | 1 | |c 2004 | |
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| 500 | |a Date Completed 23.11.2004 | ||
| 500 | |a Date Revised 21.11.2013 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright 2004 S. Karger AG, Basel | ||
| 520 | |a BACKGROUND: Lysyl oxidase is a promising candidate gene for a mutation search in intracranial aneurysm families because (a) it controls the processing, cross-linking and maturation of collagen and elastin fibers in the blood vessel wall, (b) its expression levels and activity are altered in different animal models of aneurysm pathogenesis, and (c) it is encoded within the chromosome 5q22-31 region of suggestive linkage to intracranial aneurysms | ||
| 520 | |a METHODS: We have performed genomic sequencing of all 7 exons including the intron-exon splice sites and of the putative promoter region for lysyl oxidase in 25 patients from intracranial aneurysm multiplex families resident in Central Europe | ||
| 520 | |a RESULTS: We observed 4 genetic variants including 2 novel polymorphisms, 1 in the noncoding sequence of exon 7 and the other upstream from the lysyl oxidase promoter. None of these single nucleotide polymorphisms showed an allelic association or cosegregation with intracranial aneurysm in the families | ||
| 520 | |a CONCLUSIONS: Genetic variants in the lysyl oxidase gene do not appear to be a major factor in the etiology of intracranial aneurysms in Central Europe | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
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| 700 | 1 | |a Hermans, Marcella |e verfasserin |4 aut | |
| 700 | 1 | |a Kubassek, Nina |e verfasserin |4 aut | |
| 700 | 1 | |a Sitzer, Matthias |e verfasserin |4 aut | |
| 700 | 1 | |a Burtscher, Johannes |e verfasserin |4 aut | |
| 700 | 1 | |a Knopp, Ulrich |e verfasserin |4 aut | |
| 700 | 1 | |a Schoch, Beate |e verfasserin |4 aut | |
| 700 | 1 | |a Wanke, Isabel |e verfasserin |4 aut | |
| 700 | 1 | |a Huebner, Felix |e verfasserin |4 aut | |
| 700 | 1 | |a Raabe, Andreas |e verfasserin |4 aut | |
| 700 | 1 | |a Steinmetz, Helmuth |e verfasserin |4 aut | |
| 700 | 1 | |a Auburger, Georg |e verfasserin |4 aut | |
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