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Copy number variant...
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
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- Nordenskjöld, A. (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Arkani, S. (författare)
- Karolinska Institutet,Karolinska Institute,Danderyd Hospital
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- Pettersson, M. (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Winberg, J. (författare)
- Karolinska Institute,Karolinska University Hospital
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- Cao, J. (författare)
- Karolinska Institute
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- Fossum, M. (författare)
- Karolinska Institutet,Karolinska Institute,University of Copenhagen
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- Anderberg, Magnus (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Barnkirurgi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Pediatric surgery,Lund University Research Groups,Skåne University Hospital
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- Barker, G. (författare)
- Uppsala University Hospital
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- Holmdahl, Gundela, 1956 (författare)
- Karolinska Institutet,Karolinska Institute,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Sahlgrenska Academy,Queen Silvia Children’s Hospital,Karolinska University Hospital
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- Lundin, J. (författare)
- Karolinska Institute,Karolinska University Hospital
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(creator_code:org_t)
- 2022-11-08
- 2023
- Engelska.
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 191:2, s. 378-390
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Abstract
Ämnesord
Stäng
- Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- bladder exstrophy
- chromosome
- CMA
- genetic
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Nordenskjöld, A.
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Arkani, S.
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Pettersson, M.
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Winberg, J.
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Cao, J.
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Fossum, M.
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visa fler...
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Anderberg, Magnu ...
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Barker, G.
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Holmdahl, Gundel ...
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Lundin, J.
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
- Artiklar i publikationen
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American Journal ...
- Av lärosätet
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Göteborgs universitet
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Lunds universitet
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Karolinska Institutet