• Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

  Del Toro, N.; Piñero González, Janet, 1977-; Furlong, Laura I., 1971-; Porras, P.; IMEx Consortium Curators (Nature Research, 2019)

  The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct ...
• Usefulness of the KDPI in Spain: A comparison with donor age and definition of standard/expanded criteria donor

  Arias Cabrales, Carlos Enrique; Pérez-Sáez, María José; Redondo Pachón, María Dolores; Buxeda, Anna; Burballa Tarrega, Carla Cristina; Bermejo García, Sheila; Sierra Ochoa, Adriana; Mir Fontana, M. Luisa; Buron Pust, Andrea; Zapatero, Ana; Crespo Barrio, Marta; Pascual Santos, Julio (Elsevier, 2018)

  INTRODUCTION: Kidney donor shortage requires expanding donor selection criteria, as well as use of objective tools to minimize the percentage of discarded organs. Some donor pre-transplant variables such as age, standard/expanded ...
• Shared heritability and functional enrichment across six solid cancers

  Jiang, Xia; Kogevinas, Manolis; Koutros, Stella; Lindström, Sara (Nature Research, 2019)

  Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ...
• Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

  Haworth, S.; Vrijheid, Martine; Guxens Junyent, Mònica; Sunyer Deu, Jordi; St. Pourcain, Beate (Nature Research, 2019)

  Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the ...
• Germline variation at 8q24 and prostate cancer risk in men of European ancestry

  Matejcic, Marco; Kogevinas, Manolis; Haiman, Christopher A. (Nature Research, 2018)

  Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ...
• Manic fringe deficiency imposes jagged1 addiction to intestinal tumor cells

  López Arribillaga, Erika; Rodilla, Verónica; Colomer Montañá, Carlota; Vert, Anna; Shelton, Amy; Cheng, Jason H.; Yan, Bing; González Pérez, Abel; Junttila, Melissa R.; Iglesias Coma, Mar; Torres, Ferran; Albanell Mestres, Joan; Villanueva, Alberto; Bigas Salvans, Anna; Siebel, Christian W.; Espinosa Blay, Lluís (Nature Research, 2018)

  Delta ligands regulate Notch signaling in normal intestinal stem cells, while Jagged1 activates Notch in intestinal adenomas carrying active β-catenin. We used the ApcMin/+ mouse model, tumor spheroid cultures, and ...
• Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

  Dadaev, Tokhir; Kogevinas, Manolis; Castaño Vinyals, Gemma; Kote-Jarai, Zsofia (Nature Research, 2018)

  Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable ...
• A retinoic acid-dependent stroma-leukemia crosstalk promotes chronic lymphocytic leukemia progression

  Farinello, Diego; Bascones, Sabrina; Lligé, David; Brendolan, Andrea (Nature Research, 2018)

  In chronic lymphocytic leukemia (CLL), the non-hematopoietic stromal microenvironment plays a critical role in promoting tumor cell recruitment, activation, survival, and expansion. However, the nature of the stromal cells ...
• Hysteresis control of epithelial-mesenchymal transition dynamics conveys a distinct program with enhanced metastatic ability

  Celià-Terrassa, Toni; Bastian, Caleb; Liu, Daniel; Ell, Brian; Aiello, Nicole M.; Wei, Yong; Zamalloa, Jose; Blanco, Andres M.; Hang, Xiang; Kunisky, Dmitriy; Li, Wenyang; Williams, Elizabeth D.; Rabitz, Herschel; Kang, Yibin (Nature Research, 2018)

  Epithelial-mesenchymal transition (EMT) have been extensively characterized in development and cancer, and its dynamics have been modeled as a non-linear process. However, less is known about how such dynamics may affect ...
• Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

  Emdin, Connor A.; Elosua Llanos, Roberto; Kathiresan, Sekar (Nature Research, 2018)

  Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted ...
• Metastatic niche functions and therapeutic opportunities

  Celià-Terrassa, Toni; Kang, Yibin (Nature Research, 2018)

  Metastasis is an inefficient process, especially during colonization at a distant organ. This bottleneck underlies the importance of the metastatic niche for seeding and outgrowth of metastases. Here, we classify the common ...
• Anemia en pacientes sometidos a cirugía vascular, factor predictor de amputación y muerte

  Esteban, Carlos; Rodríguez, Patricia; Escudero, José Román; Clarà Velasco, Alberto; Fernández, Álvaro; Fernández, Sebastián; Agúndez, Ignacio (Elsevier, 2019)

  Antecedentes y objetivos: En los pacientes con enfermedad arterial periférica que requieren intervenciones quirúrgicas la anemia se ha comprobado que puede ser un factor independiente de mal pronóstico tanto a corto como ...
• Vitamin D levels in mediterranean breast cancer patients compared with those in healthy women

  Pineda-Moncusí, Marta; García-Pérez, Miguel Angel; Rial, Abora; Casamayor, Guillem; Cos, Maria Lourdes; Servitja Tormo, Sonia; Tusquets, Ignasi; Díez Pérez, Adolfo; Cano, Antonio; Garcia Giralt, Natàlia; Nogués Solan, Francesc Xavier (Elsevier, 2018)

  To evaluate the vitamin D status of postmenopausal women with early estrogen-receptor-positive breast cancer and to compare it with that of healthy postmenopausal women from the same Mediterranean region. STUDY DESIGN AND ...
• Tumor-associated metabolic and inflammatory responses in early stage non-small cell lung cancer: Local patterns and prognostic significance

  Millares, Laura; Barreiro Portela, Esther; Cortes, Roldan; Martínez-Romero, Anabel; Balcells, Cristina; Cascante, Marta; Enguita, Ana Belen; Álvarez, Carlos; Rami-Porta, Ramón; Sánchez de Cos, Julio; Seijo, Luis; Monsó, Eduard; Grupo Colaborativo en Cáncer de Pulmón CIBERES-CIBERONC-SEPAR-Plataforma Biobanco Pulmonar (Elsevier, 2018)

  INTRODUCTION: Non-small cell lung cancer (NSCLC) patients diagnosed in early stage and surgically-treated have five-year mortality rate >20%. The identification of biomarkers able to predict progression and death may help ...
• Leukemic transformation and second cancers in 3649 patients with high-risk essential thrombocythemia in the EXELS study

  Birgegård, Gunnar; Folkvaljon, Folke; Garmo, Hans; Holmberg, Lars; Besses Raebel, Carles; Griesshammer, Martin; Gugliotta, Luigi; Wuh, Jingyang; Achenbach, Heinrich; Kiladjian, Jean-Jacques; Harrison, Claire N. (Elsevier, 2018)

  EXELS, a post-marketing observational study, is the largest prospective study of high-risk essential thrombocythemia (ET) patients, with an observation time of 5 years. EXELS found higher event rates of acute leukemia ...
• European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

  Rack, K. A.; van den Berg-de-Ruiter, Eva; Haferlach, C.; Beverloo, H. B.; Costa, Delfina; Espinet Solà, Blanca; Foot, N.; Jeffries, S.; Martin, K.; O’Connor, S.; Schoumans, Jacqueline; Talley, P.; Telford, N.; Stioui, S.; Zemanova, Zuzana; Hastings, Rosalind J. (Frontiers, 2019)

  Cytogenomic investigations of haematological neoplasms, including chromosome banding analysis, fluorescence in situ hybridisation (FISH) and microarray analyses have become increasingly important in the clinical management ...
• CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase

  Hernández-Sánchez, María; Kotaskova, Jana; Rodríguez, Ana E.; Radova, Lenka; Tamborero Noguera, David; Abáigar, María; Plevova, Karla; Benito, Rocío; Tom, Nikola; Quijada-Álamo, Miguel; Bikos, Vasileos; Martín, Ana África; Pal, Karol; García de Coca, Alfonso; Doubek, Michael; López Bigas, Núria; Hernández-Rivas, Jesús María; Pospisilova, Sarka (Nature Research, 2019)
• Do green neighbourhoods promote urban health justice?

  Anguelovski, Isabelle; Cole, Helen; Connolly, James; Triguero Mas, Margarita, 1985- (Elsevier, 2018)
• Human cytomegalovirus antigen presentation by HLA-DR+ NKG2C+ adaptive NK cells specifically activates polyfunctional effector memory CD4+ T lymphocytes

  Costa García, Marcel, 1989-; Ataya, Michelle; Moraru, Manuela; Vilches, Carlos; López-Botet, Miguel; Muntasell i Castellví, Aura, 1972- (Frontiers, 2019)

  Natural killer (NK) cells play a dual role in the defense against viral pathogens by directly lysing infected cells as well as by regulating anti-viral T cell immunity. Infection by human cytomegalovirus (HCMV) promotes a ...
• Effect of combined gluten-free, dairy-free diet in children with steroid-resistant nephrotic syndrome: an open pilot trial

  Leon, Juliette; Pérez-Sáez, María José; Uffing, Audrey; Murakami, Naoka; Watanabe, Andreia; Cureton, Pamela; Kenyon, Victoria; Keating, Leigh; Yee, Karen; Fernandes Satiro, Carla Aline; Yu, Bryant; Bonventre, Joseph V.; Fasano, Alessio; Riella, Leonardo V. (Elsevier, 2018)

  INTRODUCTION: Steroid-resistant nephrotic syndrome (SRNS) affects both children and adults and has a high rate of progression to end-stage renal disease. Although a subset of patients have well-characterized genetic ...

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