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Consenso para la consejería genética y diagnóstico molecular oncológicos: Declaración de Punta Arenas
(2023)
Ricardo Fernández-Ramires
;
Sonia Margarit
;
Sebastián Morales
;
Conxi Lazaro
;
Sara Álvarez
7Scopus© Citations 1
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Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético
(2012)
Antonio Rollán
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VIAL COX, MARIA CECILIA
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Soledad Quesada
;
Karena Espinoza
;
Mary Hatton
Scopus© Citations 5
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A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance
(2023)
Luis Vergara-Gómez
;
Carolina Bizama
;
Jun Zhong
;
Kurt Buchegger
;
Felipe Suárez
<jats:p>Treatment options for advanced gallbladder cancer (GBC) are scarce and usually rely on cytotoxic chemotherapy, but the effectiveness of any regimen is limited and recurrence rates are high. Here, we investigated the molecular mechanisms of acquired resistance in GBC through the development and characterization of two gemcitabine-resistant GBC cell sublines (NOZ GemR and TGBC1 GemR). Morphological changes, cross-resistance, and migratory/invasive capabilities were evaluated. Then, microarray-based transcriptome profiling and quantitative SILAC-based phosphotyrosine proteomic analyses were performed to identify biological processes and signaling pathways dysregulated in gemcitabine-resistant GBC cells. The transcriptome profiling of parental and gemcitabine-resistant cells revealed the dysregulation of protein-coding genes that promote the enrichment of biological processes such as epithelial-to-mesenchymal transition and drug metabolism. On the other hand, the phosphoproteomics analysis of NOZ GemR identified aberrantly dysregulated signaling pathways in resistant cells as well as active kinases, such as ABL1, PDGFRA, and LYN, which could be novel therapeutic targets in GBC. Accordingly, NOZ GemR showed increased sensitivity toward the multikinase inhibitor dasatinib compared to parental cells. Our study describes transcriptome changes and altered signaling pathways occurring in gemcitabine-resistant GBC cells, which greatly expands our understanding of the underlying mechanisms of acquired drug resistance in GBC.</jats:p>
1Scopus© Citations 6
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Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
(2014)
REPETTO LISBOA, MARIA GABRIELA
;
M Luisa Guzmán
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DELGADO BECERRA, OROZIMBA IRIS
;
Hugo Loyola
;
Mirta Palomares
1Scopus© Citations 58 1
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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(2015)
GUILLERMO ROBERTO LAY SON RODRIGUEZ
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Karena Espinoza
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VIAL COX, MARIA CECILIA
;
Juan C. Rivera
;
María L. Guzmán
Scopus© Citations 13 1
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Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals
(2015)
BENAVIDES GONZALEZ, FELIPE ORLANDO
;
Nicole Grossman
;
Helena Poggi
;
Elena Nieto
;
Antonio Bertrán
Scopus© Citations 12 1
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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(2017)
Luis E. León
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BENAVIDES GONZALEZ, FELIPE ORLANDO
;
Karena Espinoza
;
Patricia Alvarez
;
VIAL COX, MARIA CECILIA
29 1Scopus© Citations 27
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Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
(2017)
Sofía Catena
;
Mariana Aracena
;
Óscar Pizarro
;
Karena Espinoza
;
GUILLERMO ROBERTO LAY SON RODRIGUEZ
<jats:p>Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted. His clinical evolution has been marked by failure to thrive, severe developmental delay, and cognitive impairment. The diagnosis of Toriello-Carey syndrome (TCS) was based on his “gestalt.” aCGH identified a de novo proximal deletion of 17 Mb in 6q (6q12q14.3). Deletion 6q13q14 seems to be responsible for the main facial features and should be considered within the differential diagnosis of TCS.</jats:p>
Scopus© Citations 3 7
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Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert
(2019)
Lucas Vicuña
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FERNANDEZ ARANCIBIA, MARIO
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VIAL COX, MARIA CECILIA
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Patricio Valdebenito
;
Eduardo Chaparro
<jats:title>Abstract</jats:title><jats:p>Inorganic arsenic (As) is a toxic xenobiotic and carcinogen associated with severe health conditions. The urban population from the Atacama Desert in northern Chile was exposed to extremely high As levels (up to 600 µg/l) in drinking water between 1958 and 1971, leading to increased incidence of urinary bladder cancer (BC), skin cancer, kidney cancer, and coronary thrombosis decades later. Besides, the Andean Native-American ancestors of the Atacama population were previously exposed for millennia to elevated As levels in water (∼120 µg/l) for at least 5,000 years, suggesting adaptation to this selective pressure. Here, we performed two genome-wide selection tests—PBSn1 and an ancestry-enrichment test—in an admixed population from Atacama, to identify adaptation signatures to As exposure acquired before and after admixture with Europeans, respectively. The top second variant selected by PBSn1 was associated with LCE4A-C1orf68, a gene that may be involved in the immune barrier of the epithelium during BC. We performed association tests between the top PBSn1 hits and BC occurrence in our population. The strongest association (P = 0.012) was achieved by the LCE4A-C1orf68 variant. The ancestry-enrichment test detected highly significant signals (P = 1.3 × 10−9) mapping MAK16, a gene with important roles in ribosome biogenesis during the G1 phase of the cell cycle. Our results contribute to a better understanding of the genetic factors involved in adaptation to the pathophysiological consequences of As exposure.</jats:p>
Scopus© Citations 15 1

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