Publications by authors named "Maria C M Ramirez"

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Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
John A Martignetti, Lifeng Tian, Dong Li, Maria Celeste M Ramirez, Olga Camacho-Vanegas

Am J Hum Genet· June 2013

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Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
Julie Deuquet, Ekkehart Lausch, Nicolas Guex, Laurence Abrami, Suzanne Salvi, Maria Celeste M Ramirez

EMBO Mol Med· April 2011

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Loss of matrix metalloproteinase-2 amplifies murine toxin-induced liver fibrosis by upregulating collagen I expression.
Brian D Radbill, Ritu Gupta, Maria Celeste M Ramirez, Analisa DiFeo, John A Martignetti

Dig Dis Sci· February 2011

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Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
Julie Deuquet, Laurence Abrami, Analisa Difeo, Maria Celeste M Ramirez, John A Martignetti

Hum Mutat· April 2009

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Infantile systemic hyalinosis: Case report and review of the literature.
Lisa E Lindvall, Tanya Kormeili, Elaine Chen, Maria Celeste M Ramirez, Valerie Grum-Tokars

J Am Acad Dermatol· February 2008

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Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
Rebecca A Mosig, Oonagh Dowling, Analisa DiFeo, Maria Celeste M Ramirez, Ian C Parker

Hum Mol Genet· May 2007

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Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
Richard J Antaya, Mariana M Cajaiba, Joseph Madri, Maria A Lopez, Maria Celeste M Ramirez

Am J Dermatopathol· February 2007

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Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
Joseph T C Shieh, Petra Swidler, John A Martignetti, Maria Celeste M Ramirez, Imelda Balboni

Pediatrics· November 2006

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Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
David F Bishop, Annika Johansson, Robert Phelps, Amr A Shady, Maria C M Ramirez

Am J Hum Genet· April 2006

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