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Classic Bladder Exs...
Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
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- Draaken, Markus (author)
- Institute of Human Genetics, University of Bonn, Germany
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Baudisch, Friederike (author)
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Timmermann, Bernd (author)
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Kuhl, Heiner (author)
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Kerick, Martin (author)
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Proske, Judith (author)
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Wittler, Lars (author)
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Pennimpede, Tracie (author)
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Ebert, Anne-Karoline (author)
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Roesch, Wolfgang (author)
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Stein, Raimund (author)
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Bartels, Enrika (author)
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von Lowtzow, Catharina (author)
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Boemers, Thomas M. (author)
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Herms, Stefan (author)
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Gearhart, John P. (author)
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Lakshmanan, Yegappan (author)
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- Clementson Kockum, Christina (author)
- Lund 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
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- Holmdahl, Gundela (author)
- Karolinska Institutet
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- Läckgren, Göran (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnkirurgi/Christofferson
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- Nordenskjold, Agnetha (author)
- Karolinska Institutet
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Boyadjiev, Simeon A. (author)
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Herrmann, Bernhard G. (author)
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Noethen, Markus M. (author)
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Ludwig, Michael (author)
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- Reutter, Heiko (author)
- Institute of Human Genetics, University of Bonn, Germany
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(creator_code:org_t)
- 2014-04-25
- 2014
- English.
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In: Birth Defects Research. Part A: Clinical and Molecular Teratology. - : Wiley. - 1542-0760 .- 1542-0752. ; 100:6, s. 512-517
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Farmakologi och toxikologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Pharmacology and Toxicology (hsv//eng)
Keyword
- chromosome 22q11.2
- duplication
- bladder exstrophy and epispadias
- complex (BEEC)
- classic bladder exstrophy (CBE)
- copy number variation
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Draaken, Markus
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Baudisch, Friede ...
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Timmermann, Bern ...
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Kuhl, Heiner
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Kerick, Martin
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Proske, Judith
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show more...
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Wittler, Lars
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Pennimpede, Trac ...
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Ebert, Anne-Karo ...
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Roesch, Wolfgang
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Stein, Raimund
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Bartels, Enrika
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von Lowtzow, Cat ...
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Boemers, Thomas ...
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Herms, Stefan
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Gearhart, John P ...
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Lakshmanan, Yega ...
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Clementson Kocku ...
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Holmdahl, Gundel ...
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Läckgren, Göran
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Nordenskjold, Ag ...
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Boyadjiev, Simeo ...
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Herrmann, Bernha ...
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Noethen, Markus ...
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Ludwig, Michael
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Reutter, Heiko
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Urology and Neph ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Pharmacology and ...
- Articles in the publication
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Birth Defects Re ...
- By the university
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Lund University
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Uppsala University
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Karolinska Institutet