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  Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Draaken, M., Baudisch, F., Timmermann, B., Kuhl, H., Kerick, M., Proske, J., et al. (2014). Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Research Part A: Clinical and Molecular Teratology, 100(6), 512-517. doi:10.1002/bdra.23249.

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Draaken.pdf (Verlagsversion), 187KB
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© 2014 Wiley Periodicals, Inc.
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Draaken, M., Autor
Baudisch, F., Autor
Timmermann, B.1, Autor           
Kuhl, H.1, Autor           
Kerick, M.1, Autor           
Proske, J., Autor
Wittler, L.2, Autor           
Pennimpede, T.2, Autor           
Ebert, A. K., Autor
Rösch, W., Autor
Stein, R., Autor
Bartels, E., Autor
von Lowtzow, C., Autor
Boemers, T. M., Autor
Herms, S., Autor
Gearhart, J. P., Autor
Lakshmanan, Y., Autor
Kockum, C. C., Autor
Holmdahl, G., Autor
Läckgren, G., Autor
Nordenskjöld, A., AutorBoyadjiev, S. A., AutorHerrmann, B. G.2, Autor           Nöthen, M. M., AutorLudwig, M., AutorReutter, H., Autor mehr..
Affiliations:
1Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              
2Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              

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Schlagwörter: chromosome 22q11.2; duplication; bladder exstrophy and epispadias complex (BEEC); classic bladder exstrophy (CBE); copy number variation
 Zusammenfassung: Background Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24–1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. Conclusion Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation.

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Sprache(n): eng - English
 Datum: 2014-04-252014-06
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1002/bdra.23249
 Art des Abschluß: -

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Titel: Birth Defects Research Part A: Clinical and Molecular Teratology
Genre der Quelle: Zeitschrift
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Affiliations:
Ort, Verlag, Ausgabe: Wiley Periodicals, Inc.
Seiten: - Band / Heft: 100 (6) Artikelnummer: - Start- / Endseite: 512 - 517 Identifikator: -