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Page 1
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117.
Biomolecules. 2023.
PMID: 37509153
Free PMC article.
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H.
Mingardo E, et al. Among authors: ebert ak.
Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3.
Commun Biol. 2022.
PMID: 36352089
Free PMC article.
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Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature.
Reutter H, Bökenkamp A, Ebert AK, Rösch W, Boemers TM, Nöthen MM, Ludwig M.
Reutter H, et al. Among authors: ebert ak.
Eur J Pediatr. 2009 Jul;168(7):881-3. doi: 10.1007/s00431-008-0852-5. Epub 2008 Oct 16.
Eur J Pediatr. 2009.
PMID: 18923839
Review.
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H.
Zhang R, et al. Among authors: ebert ak.
Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170.
Sci Rep. 2017.
PMID: 28176844
Free PMC article.
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Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.
Qi L, Wang M, Yagnik G, Mattheisen M, Gearhart JP, Lakshmanan Y, Ebert AK, Rösch W, Ludwig M, Draaken M, Reutter H, Boyadjiev SA.
Qi L, et al. Among authors: ebert ak.
Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):759-63. doi: 10.1002/bdra.23161. Epub 2013 Aug 2.
Birth Defects Res A Clin Mol Teratol. 2013.
PMID: 23913486
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Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann BG, Mattheisen M, Nöthen MM, Ludwig M, Reutter H.
Draaken M, et al. Among authors: ebert ak.
PLoS Genet. 2015 Mar 12;11(3):e1005024. doi: 10.1371/journal.pgen.1005024. eCollection 2015 Mar.
PLoS Genet. 2015.
PMID: 25763902
Free PMC article.
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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M.
Reutter H, et al. Among authors: ebert ak.
Hum Mol Genet. 2014 Oct 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22.
Hum Mol Genet. 2014.
PMID: 24852367
Free PMC article.
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