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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: fan x, fan y. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hwang DY, et al. Among authors: fan x. Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31. Hum Genet. 2015. PMID: 26026792 Free PMC article. Clinical Trial.
Crim1 regulates integrin signaling in murine lens development.
Zhang Y, Fan J, Ho JW, Hu T, Kneeland SC, Fan X, Xi Q, Sellarole MA, de Vries WN, Lu W, Lachke SA, Lang RA, John SW, Maas RL. Zhang Y, et al. Among authors: fan x, fan j. Development. 2016 Jan 15;143(2):356-66. doi: 10.1242/dev.125591. Epub 2015 Dec 17. Development. 2016. PMID: 26681494 Free PMC article.
Loss of Roundabout Guidance Receptor 2 (Robo2) in Podocytes Protects Adult Mice from Glomerular Injury by Maintaining Podocyte Foot Process Structure.
Pisarek-Horowitz A, Fan X, Kumar S, Rasouly HM, Sharma R, Chen H, Coser K, Bluette CT, Hirenallur-Shanthappa D, Anderson SR, Yang H, Beck LH Jr, Bonegio RG, Henderson JM, Berasi SP, Salant DJ, Lu W. Pisarek-Horowitz A, et al. Among authors: fan x. Am J Pathol. 2020 Apr;190(4):799-816. doi: 10.1016/j.ajpath.2019.12.009. Epub 2020 Mar 24. Am J Pathol. 2020. PMID: 32220420 Free PMC article.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. Quintero-Rivera F, et al. Among authors: fan x. Hum Mol Genet. 2015 Apr 15;24(8):2375-89. doi: 10.1093/hmg/ddv004. Epub 2015 Jan 7. Hum Mol Genet. 2015. PMID: 25574029 Free PMC article.
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