Loss of Matrix Metalloproteinase-2 Amplifies Murine Toxin-Induced Liver Fibrosis by Upregulating Collagen I Expression
Radbill, Brian D, Gupta, Ritu, Ramirez, Maria Celeste M, DiFeo, Analisa, Martignetti, John A, Alvarez, Carlos E, Friedman, Scott L, Narla, Goutham, Vrabie, Raluca, Bowles, Robert, Saiman, Yedidya, Bansal, Meena B
Published in Digestive diseases and sciences (01.02.2011)
Published in Digestive diseases and sciences (01.02.2011)
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Journal Article
Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts
Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Till, Jacob, Miranda-Lorenzo, Irene, Terzo, Esteban, Ramirez, Maria Celeste, Schramm, Vern, Cordovano, Grace, Watts, Giles, Mehta, Sarju, Kimonis, Virginia, Hoch, Benjamin, Philibert, Keith D., Raabe, Carsten A., Bishop, David F., Glucksman, Marc J., Martignetti, John A.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
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, Rebecca A., Dowling, Oonagh, DiFeo, Analisa, Ramirez, Maria Celeste M., Parker, Ian C., Abe, Etsuko, Diouri, Janane, Aqeel, Aida Al, Wylie, James D., Oblander, Samantha A., Madri, Joseph, Bianco, Paolo, Apte, Suneel S., Zaidi, Mone, Doty, Stephen B., Majeska, Robert J., Schaffler, Mitchell B., Martignetti, John A.
Published in Human molecular genetics (01.05.2007)
Published in Human molecular genetics (01.05.2007)
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Journal Article
Infantile systemic hyalinosis: Case report and review of the literature
Lindvall, Lisa E., MS, Kormeili, Tanya, MD, Chen, Elaine, BA, Ramirez, Maria Celeste M., PhD, Grum-Tokars, Valerie, PhD, Glucksman, Marc J., PhD, Martignetti, John A., MD, PhD, Zaragoza, Michael V., MD, PhD, Dyson, Senait W., MD
Published in Journal of the American Academy of Dermatology (01.02.2008)
Published in Journal of the American Academy of Dermatology (01.02.2008)
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Journal Article
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Journal Article
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
Shieh, Joseph T C, Swidler, Petra, Martignetti, John A, Ramirez, Maria Celeste M, Balboni, Imelda, Kaplan, Julie, Kennedy, Jeanette, Abdul-Rahman, Omar, Enns, Gregory M, Sandborg, Christy, Slavotinek, Anne, Hoyme, H Eugene
Published in Pediatrics (Evanston) (01.11.2006)
Published in Pediatrics (Evanston) (01.11.2006)
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Journal Article
Minimal Atrophy of the Entorhinal Cortex and Hippocampus: Progression of Cognitive Impairment
Varon, Daniel, Loewenstein, David A., Potter, Elizabeth, Greig, Maria T., Agron, Joscelyn, Shen, Qian, Zhao, Weizhao, Celeste Ramirez, Maria, Santos, Isael, Barker, Warren, Potter, Huntington, Duara, Ranjan
Published in Dementia and geriatric cognitive disorders (01.05.2011)
Published in Dementia and geriatric cognitive disorders (01.05.2011)
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Journal Article
Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors
Deuquet, Julie, Lausch, Ekkehart, Guex, Nicolas, Abrami, Laurence, Salvi, Suzanne, Lakkaraju, Asvin, Ramirez, Maria Celeste M., Martignetti, John A., Rokicki, Dariusz, Bonafe, Luisa, Superti‐Furga, Andrea, van der Goot, Françoise G.
Published in EMBO molecular medicine (01.04.2011)
Published in EMBO molecular medicine (01.04.2011)
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Journal Article
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum
Deuquet, Julie, Abrami, Laurence, Difeo, Analisa, Ramirez, Maria Celeste M, Martignetti, John A, van der Goot, F. Gisou
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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Journal Article
Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene
Antaya, Richard J, Cajaiba, Mariana M, Madri, Joseph, Lopez, Maria A, Ramirez, Maria Celeste M, Martignetti, John A, Reyes-Múgica, Miguel
Published in The American journal of dermatopathology (01.02.2007)
Published in The American journal of dermatopathology (01.02.2007)
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Journal Article
Loss of Matrix Metalloproteinase-2 Amplifies Murine Toxin-Induced Liver Fibrosis by Upregulating CollagenI Expression
Radbill, Brian D, Gupta, Ritu, Ramirez, Maria Celeste M, DiFeo, Analisa, Martignetti, John A, Alvarez, Carlos E, Friedman, Scott L, Narla, Goutham, Vrabie, Raluca, Bowles, Robert, Saiman, Yedidya, Bansal, Meena B
Published in Digestive diseases and sciences (01.02.2011)
Published in Digestive diseases and sciences (01.02.2011)
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Journal Article
Factores que influyen en el proceso emprendedor local. Apreciaciones de emprendedores turísticos de Esquel (Argentina)
López, Silvia Mabel, Gauna Lavayén, Mariana, Fernández, María Victoria, Ramírez, María Celeste, Cesar, Rubén Ángel
Published in Teuken Bidikay (Online) (01.01.2019)
Published in Teuken Bidikay (Online) (01.01.2019)
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Journal Article
Aporte de nuevos emprendimientos al desarrollo de mercados locales y generación de empleo: El caso de Esquel, Chubut, Argentina
Fernández, María Victoria, López, Silvia Mabel, Lavayén, Mariana Gauna, Ramírez, María Celeste, Luna, Juan Pablo
Published in Teuken Bidikay (Online) (05.03.2024)
Published in Teuken Bidikay (Online) (05.03.2024)
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