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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojević V, Clementson Kockum C, Lundin J, Lindstrand A, Nordenskjöld A. Baranowska Körberg I, et al. Among authors: cao j. Hum Mol Genet. 2015 Sep 15;24(18):5069-78. doi: 10.1093/hmg/ddv225. Epub 2015 Jun 23. Hum Mol Genet. 2015. PMID: 26105184
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
Söderhäll C, Körberg IB, Thai HT, Cao J, Chen Y, Zhang X, Shulu Z, van der Zanden LF, van Rooij IA, Frisén L, Roeleveld N, Markljung E, Kockum I, Nordenskjöld A. Söderhäll C, et al. Among authors: cao j. Eur J Hum Genet. 2015 Apr;23(4):516-22. doi: 10.1038/ejhg.2014.129. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986825 Free PMC article.
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: cao j. Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170. Sci Rep. 2017. PMID: 28176844 Free PMC article.
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
Virtanen VB, Salo PP, Cao J, Löf-Granström A, Milani L, Metspalu A, Rintala RJ, Saarenpää-Heikkilä O, Paunio T, Wester T, Nordenskjöld A, Perola M, Pakarinen MP. Virtanen VB, et al. Among authors: cao j. Eur J Med Genet. 2019 Apr;62(4):229-234. doi: 10.1016/j.ejmg.2018.07.019. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031151
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, Hofmeister W, Cao J, Nilsson D, Holmdahl G, Barker G, Anderberg M, Vukojević V, Lindstrand A, Nordenskjöld A. Lundin J, et al. Among authors: cao j. Mol Genet Genomic Med. 2019 Jun;7(6):e666. doi: 10.1002/mgg3.666. Epub 2019 May 1. Mol Genet Genomic Med. 2019. PMID: 31044557 Free PMC article.
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