MariaC.RamirezMD

PubMed

• 48 citations
  Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
  Adel Shalata, Maria Celeste M. Ramirez, Robert J. Desnick, Nolan Priedigkeit, Christoph Buettner, Claudia Lindtner, Mohammed Mahroum, Muhammad A. Abdul-Ghani, Feng Don...> ;American Journal of Human Genetics. 2013 Dec 5
• Cutting edge: efficient MHC class I cross-presentation during early vaccinia infection requires the transfer of proteasomal intermediates between antigen donor and pre...
  Serna, A., Ramirez, M.C., Soukhanova, A., Sigal, L.J.> ;J Immunol. 2003 Dec 1
• Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
  Dowling, O., Difeo, A., Ramirez, M.C., Tukel, T., Narla, G., Bonafe, L., Kayserili, H., Yuksel-Apak, M., Paller, A.S., Norton, K., Teebi, A.S., Grum-Tokars, V., Martin...> ;Am J Hum Genet. 2003 Oct
• Macrophages and dendritic cells use the cytosolic pathway to rapidly cross-present antigen from live, vaccinia-infected cells.
  Ramirez, M.C., Sigal, L.J.> ;J Immunol. 2002 Dec 15
• Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
  Shieh, J. T., Swidler, P., Martignetti, J. A., Ramirez, M. C., Balboni, I., Kaplan, J., Kennedy, J., Abdul-Rahman, O., Enns, G. M., Sandborg, C., Slavotinek, A., Hoyme...> ;Pediatrics. 2006 Nov
• Infantile systemic hyalinosis: Case report and review of the literature.
  Lindvall, L. E., Kormeili, T., Chen, E., Ramirez, M. C., Grum-Tokars, V., Glucksman, M. J., Martignetti, J. A., Zaragoza, M. V., Dyson, S. W.> ;J Am Acad Dermatol. 2008 Feb
• Loss of matrix metalloproteinase-2 amplifies murine toxin-induced liver fibrosis by upregulating collagen I expression.
  Radbill, B. D., Gupta, R., Ramirez, M. C., DiFeo, A., Martignetti, J. A., Alvarez, C. E., Friedman, S. L., Narla, G., Vrabie, R., Bowles, R., Saiman, Y., Bansal, M. B.> ;Dig Dis Sci. 2011 Feb
• 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, R. A., Dowling, O., DiFeo, A., Ramirez, M. C., Parker, I. C., Abe, E., Diouri, J., Aqeel, A. A., Wylie, J. D., Oblander, S. A., Madri, J., Bianco, P., Apte, S. ...> ;Hum Mol Genet. 2007 May 1
• Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
  Deuquet, J., Abrami, L., Difeo, A., Ramirez, M. C., Martignetti, J. A., van der Goot, F. G.> ;Hum Mutat. 2009 Apr 01
• Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
  Deuquet, J., Lausch, E., Guex, N., Abrami, L., Salvi, S., Lakkaraju, A., Ramirez, M. C., Martignetti, J. A., Rokicki, D., Bonafe, L., Superti-Furga, A., van der Goot, ...> ;EMBO Mol Med. 2011 Apr
• Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
  Antaya, R. J., Cajaiba, M. M., Madri, J., Lopez, M. A., Ramirez, M. C., Martignetti, J. A., Reyes-Múgica, M.> ;Am J Dermatopathol. 2007 Feb
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