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Copy number variant...
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Nordenskjöld, A.Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
(författare)
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
- Artikel/kapitelEngelska2023
Förlag, utgivningsår, omfång ...
Nummerbeteckningar
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LIBRIS-ID:oai:gup.ub.gu.se/323596
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https://gup.ub.gu.se/publication/323596URI
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https://doi.org/10.1002/ajmg.a.63031DOI
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https://lup.lub.lu.se/record/9a070a17-694a-4be1-afaf-0dc94a27cc1aURI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:151131313URI
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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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 och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Arkani, S.Karolinska Institutet,Karolinska Institute,Danderyd Hospital
(författare)
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Pettersson, M.Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
(författare)
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Winberg, J.Karolinska Institute,Karolinska University Hospital
(författare)
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Cao, J.Karolinska Institute
(författare)
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Fossum, M.Karolinska Institutet,Karolinska Institute,University of Copenhagen
(författare)
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Anderberg, MagnusLund 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(Swepub:lu)med-mag
(författare)
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Barker, G.Uppsala University Hospital
(författare)
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Holmdahl, Gundela,1956Karolinska Institutet,Karolinska Institute,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Sahlgrenska Academy,Karolinska University Hospital,Queen Silvia Children’s Hospital(Swepub:gu)xhogun
(författare)
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Lundin, J.Karolinska Institute,Karolinska University Hospital
(författare)
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Karolinska InstituteKarolinska University Hospital
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:American Journal of Medical Genetics, Part A: Wiley191:2, s. 378-3901552-48251552-4833
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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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- MEDICIN OCH HÄLSOVETENSKAP
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och Klinisk medicin
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och Pediatrik
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American Journal ...
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Göteborgs universitet
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Lunds universitet
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Karolinska Institutet