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  • Draaken, MarkusInstitute of Human Genetics, University of Bonn, Germany (author)

Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-04-25
  • Wiley,2014

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:e51970ce-497a-4686-b532-1fd5f7a26d0c
  • https://lup.lub.lu.se/record/4609206URI
  • https://doi.org/10.1002/bdra.23249DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-279323URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:129246667URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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. (C) 2014 Wiley Periodicals, Inc.

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Added entries (persons, corporate bodies, meetings, titles ...)

  • Baudisch, Friederike (author)
  • Timmermann, Bernd (author)
  • Kuhl, Heiner (author)
  • Kerick, Martin (author)
  • Proske, Judith (author)
  • Wittler, Lars (author)
  • Pennimpede, Tracie (author)
  • Ebert, Anne-Karoline (author)
  • Roesch, Wolfgang (author)
  • Stein, Raimund (author)
  • Bartels, Enrika (author)
  • von Lowtzow, Catharina (author)
  • Boemers, Thomas M. (author)
  • Herms, Stefan (author)
  • Gearhart, John P. (author)
  • Lakshmanan, Yegappan (author)
  • Clementson Kockum, ChristinaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-ccm (author)
  • Holmdahl, GundelaKarolinska Institutet (author)
  • Läckgren, GöranUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnkirurgi/Christofferson(Swepub:uu)goralack (author)
  • Nordenskjold, AgnethaKarolinska Institutet (author)
  • Boyadjiev, Simeon A. (author)
  • Herrmann, Bernhard G. (author)
  • Noethen, Markus M. (author)
  • Ludwig, Michael (author)
  • Reutter, HeikoInstitute of Human Genetics, University of Bonn, Germany (author)
  • Institute of Human Genetics, University of Bonn, GermanyPediatrik, Lund (creator_code:org_t)

Related titles

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