Literature DB >> 28794909

Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.

Rong Zhang1, Michael Knapp2, Franziska Kause1, Heiko Reutter1,3, Michael Ludwig4.   

Abstract

A genome-wide association study and meta-analysis identified ISL1 as the first genome-wide significant susceptibility gene for classic bladder exstrophy (CBE). A short interspersed repetitive element (SINE), first detected in lobe-finned fishes (LF-SINE), was shown to drive Isl1 expression in embryonic mouse genital eminence. Hence, we assumed this enhancer a conclusive target for mutations associated with CBE formation and analyzed a cohort of 200 CBE patients. Although we identified two enhancer variants in five CBE patients, their clinical significance seems unlikely, implying that sequence variants in the ISL1 LF-SINE enhancer are not frequently associated with CBE.

Entities:  

Keywords:  ISL1; LF-SINE; cis -regulatory element ; classic bladder exstrophy; enhancer

Year:  2017        PMID： 28794909      PMCID： PMC5548531          DOI： 10.1055/s-0037-1602387

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  32 in total

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Journal:  Hum Mol Genet       Date:  2014-05-22       Impact factor: 6.150

3.  Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.

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Review 4.  Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations.

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5.  Expression of Isl1 during mouse development.

Authors:  Shaowei Zhuang; Qingquan Zhang; Tao Zhuang; Sylvia M Evans; Xingqun Liang; Yunfu Sun
Journal:  Gene Expr Patterns       Date:  2013-07-29       Impact factor: 1.224

Review 6.  Genetic mapping in human disease.

Authors:  David Altshuler; Mark J Daly; Eric S Lander
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7.  Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

Authors:  Lihong Qi; Mei Wang; Garima Yagnik; Manuel Mattheisen; John P Gearhart; Yegappan Lakshmanan; Anne-Karolin Ebert; Wolfgang Rösch; Michael Ludwig; Markus Draaken; Heiko Reutter; Simeon A Boyadjiev
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Authors:  Emmanouil T Dermitzakis; Andrew G Clark
Journal:  Mol Biol Evol       Date:  2002-07       Impact factor: 16.240

9.  Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Authors:  Markus Draaken; Michael Knapp; Tracie Pennimpede; Johanna M Schmidt; Anne-Karolin Ebert; Wolfgang Rösch; Raimund Stein; Boris Utsch; Karin Hirsch; Thomas M Boemers; Elisabeth Mangold; Stefanie Heilmann; Kerstin U Ludwig; Ekkehart Jenetzky; Nadine Zwink; Susanne Moebus; Bernhard G Herrmann; Manuel Mattheisen; Markus M Nöthen; Michael Ludwig; Heiko Reutter
Journal:  PLoS Genet       Date:  2015-03-12       Impact factor: 5.917

10.  CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

Authors:  Catharina von Lowtzow; Andrea Hofmann; Rong Zhang; Florian Marsch; Anne-Karoline Ebert; Wolfgang Rösch; Raimund Stein; Thomas M Boemers; Karin Hirsch; Carlo Marcelis; Wouter F J Feitz; Alfredo Brusco; Nicola Migone; Massimo Di Grazia; Susanne Moebus; Markus M Nöthen; Heiko Reutter; Michael Ludwig; Markus Draaken
Journal:  BMC Med Genet       Date:  2016-04-30       Impact factor: 2.103
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  2 in total

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2.  Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.

Authors:  Georgia Pitsava; Marcia L Feldkamp; Nathan Pankratz; John Lane; Denise M Kay; Kristin M Conway; Gary M Shaw; Jennita Reefhuis; Mary M Jenkins; Lynn M Almli; Andrew F Olshan; Faith Pangilinan; Lawrence C Brody; Robert J Sicko; Charlotte A Hobbs; Mike Bamshad; Daniel McGoldrick; Deborah A Nickerson; Richard H Finnell; James Mullikin; Paul A Romitti; James L Mills
Journal:  Am J Med Genet A       Date:  2021-08-05       Impact factor: 2.578
  2 in total

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