Search: onr:"swepub:oai:DiVA.org:uu-316932" >
ISL1 is a major sus...
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
-
- Zhang, Rong (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.
-
- Knapp, Michael (author)
- Univ Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany.
-
- Suzuki, Kentaro (author)
- Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.
-
show more...
-
- Kajioka, Daiki (author)
- Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.
-
- Schmidt, Johanna M. (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Inst Anat, Bonn, Germany.
-
- Winkler, Jonas (author)
- Univ Bonn, Inst Anat, Bonn, Germany.
-
- Yilmaz, Oeznur (author)
- Univ Bonn, Inst Anat, Bonn, Germany.
-
- Pleschka, Michael (author)
- Univ Bonn, Inst Anat, Bonn, Germany.
-
- Cao, Jia (author)
- Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.
-
- Kockum, Christina Clementson (author)
- Univ Lund Hosp, Dept Pediat Surg, Lund, Sweden.
-
- Barker, Gillian (author)
- Uppsala universitet,Barnkirurgi
-
- Holmdahl, Gundela (author)
- Karolinska Institutet,Queen Silvias Childrens Hosp, Dept Pediat Surg, Gothenburg, Sweden.
-
- Beaman, Glenda (author)
- Univ Manchester, Ctr Genom Med, Manchester M13 9PL, Lancs, England.
-
Keene, David (author)
-
- Woolf, Adrian S. (author)
- Univ Manchester, Manchester Acad Hlth Sci, Inst Human Dev, Manchester M13 9PL, Lancs, England.;Royal Manchester Childrens Hosp, Manchester, Lancs, England.
-
- Cervellione, Raimondo M. (author)
- Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Paediat Urol, Manchester, Lancs, England.
-
- Cheng, Wei (author)
- 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.
-
- Wilkins, Simon (author)
- 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.
-
- Gearhart, John P. (author)
- Johns Hopkins Sch Med, Div Pediat Urol, Baltimore, MD USA.
-
- Sirchia, Fabio (author)
- Univ Torino, Citta Salute & Sci Univ Hosp, Dept Med Sci, Turin, Italy.;Univ Torino, Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.
-
- Di Grazia, Massimo (author)
- IRCCS Burlo Garofalo, Inst Maternal & Child Hlth, Trieste, Italy.
-
- Ebert, Anne-Karolin (author)
- Univ Hosp Ulm, Dept Urol & Pediat Urol, Ulm, Germany.
-
- Roesch, Wolfgang (author)
- St Hedwig Hosp Barmherzige Bruder, Dept Pediat Urol, Regensburg, Germany.
-
- Ellinger, Joerg (author)
- Univ Hosp Bonn, Dept Urol, Bonn, Germany.
-
- Jenetzky, Ekkehart (author)
- German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.;Johannes Gutenberg Univ Mainz, Dept Child & Adolescent Psychiat & Psychotherapy, Mainz, Germany.
-
- Zwink, Nadine (author)
- German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.
-
- Feitz, Wout F. (author)
- Radboud Univ Nijmegen, Med Ctr, Pediat Urol Ctr, Dept Urol, Nijmegen, Netherlands.
-
- Marcelis, Carlo (author)
- Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands.
-
- Schumacher, Johannes (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.
-
- Martinon-Torres, Federico (author)
- 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.
-
- Hibberd, Martin Lloyd (author)
- Genome Inst Singapore, Singapore, Singapore.
-
- Khor, Chiea Chuen (author)
- Univ Calif Davis, Med Ctr, Dept Pediat, Div Genom Med, Sacramento, CA 95817 USA.
-
- Heilmann-Heimbach, Stefanie (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.
-
- Barth, Sandra (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.
-
- Boyadjiev, Simeon A. (author)
- Univ Calif Davis, Med Ctr, Dept Pediat, Div Genom Med, Sacramento, CA 95817 USA.
-
- Brusco, Alfredo (author)
- Univ Torino, Citta Salute & Sci Univ Hosp, Dept Med Sci, Turin, Italy.;Univ Torino, Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.
-
- Ludwig, Michael (author)
- Univ Bonn, Dept Clin Chem & Clin Pharmacol, Bonn, Germany.
-
- Newman, William (author)
- Univ Manchester, Ctr Genom Med, Manchester M13 9PL, Lancs, England.
-
- Nordenskjold, Agneta (author)
- Karolinska Institutet,Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Pediat Surg, Stockholm, Sweden.
-
- Yamada, Gen (author)
- Wakayama Med Univ, Inst Adv Med, Dev Genet, Wakayama, Japan.
-
- Odermatt, Benjamin (author)
- Univ Bonn, Inst Anat, Bonn, Germany.
-
- Reutter, Heiko (author)
- Univ Bonn, Inst Human Genet, Bonn, Germany.;Childrens Hosp, Dept Neonatol & Pediat Intens Care, Bonn, Germany.;Univ Bonn, Bonn, Germany.
-
show less...
-
Univ Bonn, Inst Human Genet, Bonn, Germany;Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany. Univ Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany. (creator_code:org_t)
- 2017-02-08
- 2017
- English.
-
In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
- Related links:
-
https://www.nature.c...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kirurgi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Surgery (hsv//eng)
- 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)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Zhang, Rong
-
Knapp, Michael
-
Suzuki, Kentaro
-
Kajioka, Daiki
-
Schmidt, Johanna ...
-
Winkler, Jonas
-
show more...
-
Yilmaz, Oeznur
-
Pleschka, Michae ...
-
Cao, Jia
-
Kockum, Christin ...
-
Barker, Gillian
-
Holmdahl, Gundel ...
-
Beaman, Glenda
-
Keene, David
-
Woolf, Adrian S.
-
Cervellione, Rai ...
-
Cheng, Wei
-
Wilkins, Simon
-
Gearhart, John P ...
-
Sirchia, Fabio
-
Di Grazia, Massi ...
-
Ebert, Anne-Karo ...
-
Roesch, Wolfgang
-
Ellinger, Joerg
-
Jenetzky, Ekkeha ...
-
Zwink, Nadine
-
Feitz, Wout F.
-
Marcelis, Carlo
-
Schumacher, Joha ...
-
Martinon-Torres, ...
-
Hibberd, Martin ...
-
Khor, Chiea Chue ...
-
Heilmann-Heimbac ...
-
Barth, Sandra
-
Boyadjiev, Simeo ...
-
Brusco, Alfredo
-
Ludwig, Michael
-
Newman, William
-
Nordenskjold, Ag ...
-
Yamada, Gen
-
Odermatt, Benjam ...
-
Reutter, Heiko
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Surgery
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Pediatrics
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Urology and Neph ...
- Articles in the publication
-
Scientific Repor ...
- By the university
-
Uppsala University
-
Karolinska Institutet