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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00008572naa a2200877 4500
001oai:DiVA.org:uu-316932
003SwePub
008170309s2017 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:135109617
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3169322 URI
0247 a https://doi.org/10.1038/srep421702 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1351096172 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Zhang, Rongu Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.4 aut
2451 0a ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
264 c 2017-02-08
264 1b Springer Science and Business Media LLC,c 2017
338 a print2 rdacarrier
520 a Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 x 10(-08)). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 x 10(-19). Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kirurgi0 (SwePub)302122 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Surgery0 (SwePub)302122 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 hsv//eng
7001 a Knapp, Michaelu Univ Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany.4 aut
7001 a Suzuki, Kentarou Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.4 aut
7001 a Kajioka, Daikiu Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.4 aut
7001 a Schmidt, Johanna M.u Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Inst Anat, Bonn, Germany.4 aut
7001 a Winkler, Jonasu Univ Bonn, Inst Anat, Bonn, Germany.4 aut
7001 a Yilmaz, Oeznuru Univ Bonn, Inst Anat, Bonn, Germany.4 aut
7001 a Pleschka, Michaelu Univ Bonn, Inst Anat, Bonn, Germany.4 aut
7001 a Cao, Jiau Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.4 aut
7001 a Kockum, Christina Clementsonu Univ Lund Hosp, Dept Pediat Surg, Lund, Sweden.4 aut
7001 a Barker, Gillianu Uppsala universitet,Barnkirurgi4 aut0 (Swepub:uu)gibar102
7001 a Holmdahl, Gundelau Karolinska Institutet,Queen Silvias Childrens Hosp, Dept Pediat Surg, Gothenburg, Sweden.4 aut
7001 a Beaman, Glendau Univ Manchester, Ctr Genom Med, Manchester M13 9PL, Lancs, England.4 aut
7001 a Keene, David4 aut
7001 a Woolf, Adrian S.u Univ Manchester, Manchester Acad Hlth Sci, Inst Human Dev, Manchester M13 9PL, Lancs, England.;Royal Manchester Childrens Hosp, Manchester, Lancs, England.4 aut
7001 a Cervellione, Raimondo M.u Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Paediat Urol, Manchester, Lancs, England.4 aut
7001 a Cheng, Weiu Capital Inst Pediat, Dept Pediat Surg, Beijing, Peoples R China.;Monash Univ, Fac Med Nursing & Hlth Sci, Southern Med Sch, Dept Paediat, Clayton, Vic, Australia.;Monash Univ, Fac Med Nursing & Hlth Sci, Southern Med Sch, Dept Surg, Clayton, Vic, Australia.;Beijing United Family Hosp, Dept Surg, Beijing, Peoples R China.4 aut
7001 a Wilkins, Simonu Cabrini Monash Univ, Cabrini Hosp, Dept Surg, Melbourne, Vic, Australia.;Monash Univ, Sch Publ Hlth & Prevent Med, Dept Epidemiol & Prevent Med, Clayton, Vic 3800, Australia.4 aut
7001 a Gearhart, John P.u Johns Hopkins Sch Med, Div Pediat Urol, Baltimore, MD USA.4 aut
7001 a Sirchia, Fabiou Univ Torino, Citta Salute & Sci Univ Hosp, Dept Med Sci, Turin, Italy.;Univ Torino, Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut
7001 a Di Grazia, Massimou IRCCS Burlo Garofalo, Inst Maternal & Child Hlth, Trieste, Italy.4 aut
7001 a Ebert, Anne-Karolinu Univ Hosp Ulm, Dept Urol & Pediat Urol, Ulm, Germany.4 aut
7001 a Roesch, Wolfgangu St Hedwig Hosp Barmherzige Bruder, Dept Pediat Urol, Regensburg, Germany.4 aut
7001 a Ellinger, Joergu Univ Hosp Bonn, Dept Urol, Bonn, Germany.4 aut
7001 a Jenetzky, Ekkehartu German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.;Johannes Gutenberg Univ Mainz, Dept Child & Adolescent Psychiat & Psychotherapy, Mainz, Germany.4 aut
7001 a Zwink, Nadineu German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.4 aut
7001 a Feitz, Wout F.u Radboud Univ Nijmegen, Med Ctr, Pediat Urol Ctr, Dept Urol, Nijmegen, Netherlands.4 aut
7001 a Marcelis, Carlou Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands.4 aut
7001 a Schumacher, Johannesu Univ Bonn, Inst Human Genet, Bonn, Germany.4 aut
7001 a Martinon-Torres, Federicou Hosp Clin Univ Santiago, Translat Pediat & Infect Dis, Santiago De Compostela, Spain.;Inst Invest Sanitaria Santiago Santiago, GENVIP Res Grp Www Genvip Org, Galicia, Spain.4 aut
7001 a Hibberd, Martin Lloydu Genome Inst Singapore, Singapore, Singapore.4 aut
7001 a Khor, Chiea Chuenu Univ Calif Davis, Med Ctr, Dept Pediat, Div Genom Med, Sacramento, CA 95817 USA.4 aut
7001 a Heilmann-Heimbach, Stefanieu Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.4 aut
7001 a Barth, Sandrau Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.4 aut
7001 a Boyadjiev, Simeon A.u Univ Calif Davis, Med Ctr, Dept Pediat, Div Genom Med, Sacramento, CA 95817 USA.4 aut
7001 a Brusco, Alfredou Univ Torino, Citta Salute & Sci Univ Hosp, Dept Med Sci, Turin, Italy.;Univ Torino, Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut
7001 a Ludwig, Michaelu Univ Bonn, Dept Clin Chem & Clin Pharmacol, Bonn, Germany.4 aut
7001 a Newman, Williamu Univ Manchester, Ctr Genom Med, Manchester M13 9PL, Lancs, England.4 aut
7001 a Nordenskjold, Agnetau Karolinska Institutet,Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Pediat Surg, Stockholm, Sweden.4 aut
7001 a Yamada, Genu Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.4 aut
7001 a Odermatt, Benjaminu Univ Bonn, Inst Anat, Bonn, Germany.4 aut
7001 a Reutter, Heikou Univ Bonn, Inst Human Genet, Bonn, Germany.;Childrens Hosp, Dept Neonatol & Pediat Intens Care, Bonn, Germany.;Univ Bonn, Bonn, Germany.4 aut
7102 a Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.b Univ Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany.4 org
7730 t Scientific Reportsd : Springer Science and Business Media LLCg 7q 7x 2045-2322
8564 u https://www.nature.com/articles/srep42170.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-316932
8564 8u https://doi.org/10.1038/srep42170
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:135109617

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