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Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Dowling O, et al. Among authors: difeo a. Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12. Am J Hum Genet. 2003. PMID: 12973667 Free PMC article.
A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk.
Narla G, Difeo A, Reeves HL, Schaid DJ, Hirshfeld J, Hod E, Katz A, Isaacs WB, Hebbring S, Komiya A, McDonnell SK, Wiley KE, Jacobsen SJ, Isaacs SD, Walsh PC, Zheng SL, Chang BL, Friedrichsen DM, Stanford JL, Ostrander EA, Chinnaiyan AM, Rubin MA, Xu J, Thibodeau SN, Friedman SL, Martignetti JA. Narla G, et al. Among authors: difeo a. Cancer Res. 2005 Feb 15;65(4):1213-22. doi: 10.1158/0008-5472.CAN-04-4249. Cancer Res. 2005. PMID: 15735005
Downregulation of KLF6 is an early event in hepatocarcinogenesis, and stimulates proliferation while reducing differentiation.
Kremer-Tal S, Narla G, Chen Y, Hod E, DiFeo A, Yea S, Lee JS, Schwartz M, Thung SN, Fiel IM, Banck M, Zimran E, Thorgeirsson SS, Mazzaferro V, Bruix J, Martignetti JA, Llovet JM, Friedman SL. Kremer-Tal S, et al. Among authors: difeo a. J Hepatol. 2007 Apr;46(4):645-54. doi: 10.1016/j.jhep.2006.10.012. Epub 2006 Nov 27. J Hepatol. 2007. PMID: 17196295 Free PMC article.
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy.
Phadke SR, Ramirez M, DiFeo A, Martignetti JA, Girisha KM. Phadke SR, et al. Among authors: difeo a. Clin Dysmorphol. 2007 Apr;16(2):95-100. doi: 10.1097/MCD.0b013e3280147187. Clin Dysmorphol. 2007. PMID: 17351352 Clinical Trial.
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA. Mosig RA, et al. Among authors: difeo a. Hum Mol Genet. 2007 May 1;16(9):1113-23. doi: 10.1093/hmg/ddm060. Epub 2007 Mar 30. Hum Mol Genet. 2007. PMID: 17400654 Free PMC article.
77 results