Search Results - "Encina, Gonzalo"

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis by Brito, Florencia, Lagos, Catalina, Cubillos, Jessica, Orellana, Joan, Gajardo, Mallen, Böhme, Daniela, Encina, Gonzalo, Repetto, Gabriela M

“…Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants…”
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Rare diseases in Chile: challenges and recommendations in universal health coverage context by Encina, Gonzalo, Castillo-Laborde, Carla, Lecaros, Juan A, Dubois-Camacho, Karen, Calderón, Juan F, Aguilera, Ximena, Klein, Andrés D, Repetto, Gabriela M

“…Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5-5.9% of the population. They…”
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Mutation in a SARS-CoV-2 Haplotype from Sub-Antarctic Chile Reveals New Insights into the Spike’s Dynamics by González-Puelma, Jorge, Aldridge, Jacqueline, Montes de Oca, Marco, Pinto, Mónica, Uribe-Paredes, Roberto, Fernández-Goycoolea, José, Alvarez-Saravia, Diego, Álvarez, Hermy, Encina, Gonzalo, Weitzel, Thomas, Muñoz, Rodrigo, Olivera-Nappa, Álvaro, Pantano, Sergio, Navarrete, Marcelo A.

“…The emergence of SARS-CoV-2 variants, as observed with the D614G spike protein mutant and, more recently, with B.1.1.7 (501Y.V1), B.1.351 (501Y.V2) and…”
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Perception of the usefulness of drug/gene pairs and barriers for pharmacogenomics in Latin America by Quinones, Luis Abel, Lavanderos, Maria Alejandra, Cayun, Juan Pablo, Garcia-Martin, Elena, Agundez, Jose Augusto, Caceres, Dante Daniel, Roco, Angela Margarita, Morales, Jorge E, Herrera, Luisa, Encina, Gonzalo, Isaza, Carlos Alberto, Redal, Maria Ana, Larovere, Laura, Soria, Nestor Walter, Eslava-Schmalbach, Javier, Castaneda-Hernandez, Gilberto, Lopez-Cortes, Andres, Magno, Luiz Alexandre, Lopez, Marisol, Chiurillo, Miguel Angel, Rodeiro, Idania, Castro de Guerra, Dinorah, Teran, Enrique, Estevez-Carrizo, Francisco, Lares-Assef, Ismael

“…Pharmacogenetics and Pharmacogenomics areas are currently emerging fields focused to manage pharmacotherapy that may prevent undertreatment while avoiding…”
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Abnormal calcium homeostasis and protein folding stress at the ER: A common factor in familial and infectious Prion disorders by Torres, Mauricio, Encina, Gonzalo, Soto, Claudio, Hetz, Claudio

“…Prion-related disorders (PrDs) are caused by the accumulation of a misfolded and protease resistant form of the cellular prion, leading to neuronal dysfunction…”
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Insulin is secreted upon glucose stimulation by both gastrointestinal enteroendocrine K-cells and L-cells engineered with the preproinsulin gene by Encina, Gonzalo, Ezquer, Fernando, Conget, Paulette, Israel, Yedy

“…Transgenic mice carrying the human insulin gene driven by the K-cell glucose-dependent insulinotropic peptide (GIP) promoter secrete insulin and display normal…”
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Avances en terapia génica en humanos: algunos conceptos básicos y un recorrido histórico by Gonzalo Encina Silva

“…Resumen: Desde que se introdujo el concepto, en la década de los 70, de tratar una enfermedad reemplazando en el paciente su DNA dañado por un DNA corregido,…”
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Draft genome sequence of the type strain of the sulfur-oxidizing acidophile, Acidithiobacillus albertensis (DSM 14366) by Castro, Matías, Moya-Beltrán, Ana, Covarrubias, Paulo C, Gonzalez, Mónica, Cardenas, Juan Pablo, Issotta, Francisco, Nuñez, Harold, Acuña, Lillian G, Encina, Gonzalo, Holmes, David S, Johnson, D Barrie, Quatrini, Raquel

“…is an extremely acidophilic, mesophilic, obligatory autotrophic sulfur-oxidizer, with potential importance in the bioleaching of sulfidic metal ores, first…”
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Biología molecular en oncología: lo que un clínico debiera saber by Dr. Encina S. Gonzalo

“…El cáncer es una patología con prevalencia en alza y cuyo origen se encuentra en el DNA, más específicamente en las alteraciones que lo afectan, y que…”
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Farmacogenética en psiquiatría: estudio de variantes alélicas del CYP450 en pacientes chilenos con patología psiquiátrica by Mauricio Moreno, Ana María Wielandt, Gonzalo Encina, Lina Ortiz

“…Resumen: Antecedentes: : Los trastornos psiquiátricos forman parte de las enfermedades más frecuentes en la población chilena y, a pesar de que la mayoría de…”
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile by Poli, M. Cecilia, Rebolledo-Jaramillo, Boris, Lagos, Catalina, Orellana, Joan, Moreno, Gabriela, Martín, Luz M., Encina, Gonzalo, Böhme, Daniela, Faundes, Víctor, Zavala, M. Jesús, Hasbún, Trinidad, Fischer, Sara, Brito, Florencia, Araya, Diego, Lira, Manuel, de la Cruz, Javiera, Astudillo, Camila, Lay-Son, Guillermo, Cares, Carolina, Aracena, Mariana, Martin, Esteban San, Coban-Akdemir, Zeynep, Posey, Jennifer E., Lupski, James R., Repetto, Gabriela M.

“…Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings,…”
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Consenso para la consejería genética y diagnóstico molecular oncológicos: Declaración de Punta Arenas by Fernández-Ramires, Ricardo, Margarit, Sonia, Morales, Sebastián, Lazaro, Conxi, Álvarez, Sara, Martin, Esteban San, Benavides, Claudio, Cammarata, Francisco, Encina, Gonzalo, Berkovits, Alejandro, Gischkow, Guilherme, Dominguez, Mev, Espinosa-Parrilla, Yolanda, Echeverría, Cesar, Zapata-Contreras, Daniela, Soto, Gustavo, Calegaro-Nassif, Melissa, Espinoza, Karena, Sullcahuaman, Yasser, Palmero, Edenir

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ENFERMEDADES RARAS EN LATINOAMÉRICA: REALIDADES Y DESAFÍOS by Repetto, Gabriela, Lopes-Cendes, Iscia, Ascurra, Marta, Encina, Gonzalo, Parra, Harvy Mauricio Velasco

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Abstract 2232: Next generation sequencing of the EGFR signaling pathway in colon cancer tumors from Chilean patients by Alvarez, Karin, Orellana, Paulina, Villarroel, Cynthia, Encina, Gonzalo, Simian, Daniela, Estay, Camila, Kobayashi, Maki, Kawashi, Hiroshi, Kronberg, Udo, Lopez, Francisco, Carvallo, Pilar

“…Abstract Introduction: The Epidermal Growth Factor Receptor (EGFR) signaling pathway regulates key cell functions like proliferation and survival. This pathway…”
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Abstract 2230: Gene mutations and deletions inactivates PTEN tumor suppressor in Chilean colon cancer patients by Encina, Gonzalo, Alvarez, Karin, Orellana, Paulina, Wielandt, Ana María, Villarroel, Cynthia, Simian, Daniela, Contreras, Luis, Kronberg, Udo, López, Francisco, Carvallo, Pilar

“…Abstract Introduction. Tumor suppressor PTEN acts as a negative regulator of the PI3K/AKT/mTOR pathway, thus controlling cell survival and proliferation…”
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KRAS gene somatic mutations in Chilean patients with colorectal cancer by Hurtado, Claudia, Encina, Gonzalo, Wielandt, Ana María, Zárate, Alejandro José, Castro, Magdalena, Carrillo, Katya, Kronberg, Udo, López-Köstner, Francisco

“…The molecular testing of KRAS mutation status in metastatic colorectal cancer patients is mandatory to identify patients eligible for anti-epidermal growth…”
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Consensus for Oncology Genetic Counseling and Molecular Diagnosis: The Punta Arenas Statement by Fernández-Ramires, Ricardo, Margarit, Sonia, Morales, Sebastián, Lazaro, Conxi, Álvarez, Sara, Martin, Esteban San, Benavides, Claudio, Cammarata, Francisco, Encina, Gonzalo, Berkovits, Alejandro, Gischkow, Guilherme, Dominguez, Mev, Espinosa-Parrilla, Yolanda, Echeverría, Cesar, Zapata-Contreras, Daniela, Soto, Gustavo, Calegaro-Nassif, Melissa, Espinoza, Karena, Sullcahuaman, Yasser, Palmero, Edenir

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Consenso para la consejería genética y diagnóstico molecular oncológicos: Declaración de Punta Arenas by Fernández-Ramires, Ricardo, Margarit, Sonia, Morales, Sebastián, Lazaro, Conxi, Álvarez, Sara, Martin, Esteban San, Benavides, Claudio, Cammarata, Francisco, Encina, Gonzalo, Berkovits, Alejandro, Gischkow, Guilherme, Dominguez, Mev, Espinosa-Parrilla, Yolanda, Echeverría, Cesar, Zapata-Contreras, Daniela, Soto, Gustavo, Calegaro-Nassif, Melissa, Espinoza, Karena, Sullcahuaman, Yasser, Palmero, Edenir

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Prevalencia y características de mutaciones somáticas del gen KRAS en pacientes chilenos con cáncer colorectal by Hurtado, Claudia, Encina, Gonzalo, Wielandt, Ana María, Zárate, Alejandro José, Castro, Magdalena, Carrillo, Katya, Kronberg, Udo, López-Köstner, Francisco

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Polymorphisms in mitochondrial genes encoding complex I subunits are maternal factors of voluntary alcohol consumption in the rat by Sapag, Amalia, González-Martínez, Ginez, Lobos-González, Lorena, Encina, Gonzalo, Tampier, Lutske, Israel, Yedy, Quintanilla, María Elena

“…OBJECTIVEAlcohol is detoxified in the liver by oxidizing enzymes that require nicotinamide adenine dinucleotide (NAD) such that, in the rat, the availability…”
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