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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005631naa a2200793 4500
001oai:lup.lub.lu.se:8e66e8e4-8c50-4a44-b94a-c814df4755de
003SwePub
008160401s2014 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-236533
009oai:prod.swepub.kib.ki.se:129922235
0247 a https://lup.lub.lu.se/record/44527582 URI
0247 a https://doi.org/10.1093/hmg/ddu2592 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2365332 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1299222352 URI
040 a (SwePub)lud (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Reutter, Heikou Institute of Human Genetics Department of Neonatology, University of Bonn, Germany4 aut
2451 0a Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
264 c 2014-05-22
264 1b Oxford University Press (OUP),c 2014
520 a Bladder Exstrophy-Epispadias Complex (BEEC), the severe end of the uro-rectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218/865 cases/controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P=8.88 x 10(-5); follow-up: P=0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P=0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
7001 a Draaken, Markus4 aut
7001 a Pennimpede, Tracie4 aut
7001 a Wittler, Lars4 aut
7001 a Brockschmidt, Felix F4 aut
7001 a Ebert, Anne-Karolin4 aut
7001 a Bartels, Enrika4 aut
7001 a Rösch, Wolfgang4 aut
7001 a Boemers, Thomas M4 aut
7001 a Hirsch, Karin4 aut
7001 a Schmiedeke, Eberhard4 aut
7001 a Meesters, Christian4 aut
7001 a Becker, Tim4 aut
7001 a Stein, Raimund4 aut
7001 a Utsch, Boris4 aut
7001 a Mangold, Elisabeth4 aut
7001 a Nordenskjöld, Agnetau Karolinska Institutet4 aut
7001 a Barker, Gillianu Uppsala universitet,Barnkirurgi,Barnkirurgi/Christofferson4 aut0 (Swepub:uu)gibar102
7001 a Clementson Kockum, Christinau 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 Medicine4 aut0 (Swepub:lu)med-ccm
7001 a Zwink, Nadine4 aut
7001 a Holmdahl, Gundulau Karolinska Institutet4 aut
7001 a Läckgren, Göranu Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnkirurgi/Christofferson4 aut0 (Swepub:uu)goralack
7001 a Jenetzky, Ekkehart4 aut
7001 a Feitz, Wouter Fj4 aut
7001 a Marcelis, Carlo4 aut
7001 a Wijers, Charlotte H W4 aut
7001 a van Rooij, Iris A L M4 aut
7001 a Gearhart, John P4 aut
7001 a Herrmann, Bernhard G4 aut
7001 a Ludwig, Michael4 aut
7001 a Boyadjiev, Simeon A4 aut
7001 a Nöthen, Markus M4 aut
7001 a Mattheisen, Manuel4 aut
7102 a Karolinska Institutetb Institute of Human Genetics Department of Neonatology, University of Bonn, Germany4 org
7730 t Human Molecular Geneticsd : Oxford University Press (OUP)g 23:20, s. 5536-5544q 23:20<5536-5544x 0964-6906x 1460-2083
8564 u http://www.ncbi.nlm.nih.gov/pubmed/24852367?dopt=Abstracty FULLTEXT
8564 u http://dx.doi.org/10.1093/hmg/ddu259y FULLTEXT
8564 u https://academic.oup.com/hmg/article-pdf/23/20/5536/17261107/ddu259.pdf
8564 8u https://lup.lub.lu.se/record/4452758
8564 8u https://doi.org/10.1093/hmg/ddu259
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-236533
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:129922235

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