UAB Digital Repository of Documents 8 records found  Search took 0.00 seconds. 
1.
13 p, 782.3 KB GCAT|Genomes for life : A prospective cohort study of the genomes of Catalonia / Obón-Santacana, Mireia (Hospital Universitari de Bellvitge) ; Vilardell, Mireia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Carreras Nolla, Anna (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Duran-Albareda, Xavier (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Velasco, Juan (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Galván-Femenía, Iván (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Alonso, Teresa (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Puig Sanz, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Sumoy, Lauro (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Duell, Eric J. (Hospital Universitari de Bellvitge) ; Perucho, Manuel (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Moreno Aguado, Víctor (Universitat de Barcelona) ; de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
The prevalence of chronic non-communicable diseases (NCDs) is increasing worldwide. NCDs are the leading cause of both morbidity and mortality, and it is estimated that by 2030, they will be responsible for 80% of deaths across the world. [...]
2018 - 10.1136/bmjopen-2017-018324
BMJ open, Vol. 8 Núm. 3 (january 2018) , p. e018324  
2.
22 p, 2.7 MB Somatic hypomethylation of pericentromeric sst1 repeats and tetraploidization in human colorectal cancer cells / González Fernández, Beatriz (Institut Germans Trias i Pujol) ; Navarro Jiménez, Maria (Institut Germans Trias i Pujol) ; Alonso De Gennaro, María José (Institut Germans Trias i Pujol) ; Jansen, Sanne Marcia (Institut Germans Trias i Pujol) ; Granada, Isabel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Perucho, Manuel (Sanford Burnham Prebys Medical Discovery Institute (SBP)) ; Alonso, Sergio (Institut Germans Trias i Pujol)
Somatic DNA hypomethylation and aneuploidy are hallmarks of cancer, and there is evidence for a causal relationship between them in knockout mice but not in human cancer. The non-mobile pericentromeric repetitive elements SST1 are hypomethylated in about 17% of human colorectal cancers (CRC) with some 5-7% exhibiting strong age-independent demethylation. [...]
2021 - 10.3390/cancers13215353
Cancers, Vol. 13 Núm. 21 (11-1 2021) , p. 5353  
3.
16 p, 3.9 MB GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing / Valls-Margarit, Jordi (Barcelona Supercomputing Center) ; Galván-Femenía, Iván (Institut Germans Trias i Pujol) ; Matías-Sánchez, Daniel (Barcelona Supercomputing Center) ; Blay, Natalia (Institut Germans Trias i Pujol) ; Puiggròs, Montserrat (Barcelona Supercomputing Center) ; Carreras Nolla, Anna (Institut Germans Trias i Pujol) ; Salvoro, Cecilia (Barcelona Supercomputing Center) ; Cortés, Beatriz (Institut Germans Trias i Pujol) ; Amela, Ramon (Barcelona Supercomputing Center) ; Farre, Xavier (Institut Germans Trias i Pujol) ; Lerga Jaso, Jon (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Sánchez-Herrero, Jose Francisco (Institut Germans Trias i Pujol) ; Moreno Aguado, Víctor (Universitat de Barcelona) ; Perucho, Manuel (Institut Germans Trias i Pujol) ; Sumoy, Lauro (Institut Germans Trias i Pujol) ; Armengol, Lluís (Quantitative Genomic Medicine Laboratories) ; Delaneau, Olivier (University of Lausanne. Department of Computational Biology) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; de Cid, Rafael (Institut Germans Trias i Pujol) ; Torrents, David (Barcelona Supercomputing Center)
The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). [...]
2022 - 10.1093/nar/gkac076
Nucleic acids research, Vol. 50, Issue 5 (March 2022) , p. 2464-2479  
4.
12 p, 790.3 KB Emerging roles of macrosatellite repeats in genome organization and disease development / Dumbovic, Gabrijela (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Forcales, Sònia Vanina (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Universitat Autònoma de Barcelona
Abundant repetitive DNA sequences are an enigmatic part of the human genome. Despite increasing evidence on the functionality of DNA repeats, their biologic role is still elusive and under frequent debate. [...]
2017 - 10.1080/15592294.2017.1318235
Epigenetics, Vol. 12 Núm. 7 (2017) , p. 515-526  
5.
12 p, 2.3 MB A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape / Castellanos, Elisabeth (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Gel, Bernat (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Rosas, Inma (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Tornero, Eva (Institut Català d'Oncologia) ; Santín, Sheila (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Pluvinet, Raquel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Velasco, Juan (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Sumoy, Lauro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Del Valle, Jesús (Institut Català d'Oncologia) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Navarro, Matilde (Institut Català d'Oncologia) ; Brunet, Joan (Institut Català d'Oncologia) ; Pineda, Marta (Institut Català d'Oncologia) ; Feliubadaló, Lidia (Institut Català d'Oncologia) ; Capellá, G. (Gabriel) (Institut Català d'Oncologia) ; Lázaro, Conxi (Institut Català d'Oncologia) ; Serra, Eduard (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. [...]
2017 - 10.1038/srep39348
Scientific reports, 2017, p. 1-12  
6.
15 p, 7.1 MB Growth suppression by MYC inhibition in small cell lung cancer cells with TP53 and RB1 inactivation / Fiorentino, Francesco Paolo (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Tokgün, Elvan (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Solé-Sánchez, Sònia (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Giampaolo, Sabrina (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Tokgün, Onur (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Jauset González, Toni (Vall d'Hebron Institut d'Oncologia) ; Kohno, Takashi (National Cancer Center Research Institute (Tòquio, Japó)) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Soucek, Laura (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Yokota, Jun (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
Small cell lung cancer (SCLC) is the most aggressive type of lung cancer with high mortality. One of the MYC family genes, MYC, MYCL or MYCN, is amplified in ~20% of the SCLCs; therefore, MYC proteins are potential therapeutic targets in SCLC patients. [...]
2016 - 10.18632/oncotarget.8826
Oncotarget, Vol. 7, Num. 21 (May 2016) , p. 31014-31028  
7.
12 p, 5.3 MB Methylation of MGMT and ADAMTS14 in normal colon mucosa : biomarkers of a field defect for cancerization preferentially targeting elder African-Americans / Alonso, Sergio (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Dai, Yuichi (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Yamashita, Kentaro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Horiuchi, Shina (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Dai, Tomoko (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Matsunaga, Akihiro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Sánchez Muñoz, Rosa (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Bilbao Sieyro, Cristina (Instituto Canario de Investigación del Cáncer) ; Díaz Chico, Juan Carlos (Instituto Canario de Investigación del Cáncer) ; Chernov, Andrei V. (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Strongin, Alex Y. (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
Somatic hypermethylation of the O6-methylguanine-DNA methyltransferase gene (MGMT) was previously associated with G > A transition mutations in KRAS and TP53 in colorectal cancer (CRC). We tested the association of MGMT methylation with G > A mutations in KRAS and TP53 in 261 CRCs. [...]
2015 - 10.18632/oncotarget.2852
Oncotarget, Vol. 6 Núm. 5 (february 2015)  
8.
15 p, 3.0 MB Epigenetic inactivation of the extracellular matrix metallopeptidase ADAMTS19 gene and the metastatic spread in colorectal cancer / Alonso, Sergio (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; González Fernández, Beatriz (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Ruiz-Larroya, Tatiana (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Durán Domínguez, Mercedes (Instituto de Biología y Genética Molecular (Valladolid)) ; Kato, Takaharu (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Matsunaga, Akihiro (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Suzuki, Koichi (Jichi Medical University (Japó)) ; Strongin, Alex Y. (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Giménez Bonafé, Pepita (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
BACKGROUND: ADAMTS19 encodes a member of the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin motifs) protein family with emerging roles in carcinogenesis and metastasis. ADAMTS shares several distinct protein modules including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. [...]
2015 - 10.1186/s13148-015-0158-1
Clinical Epigenetics, Vol. 7, No. 124 (December 2015)  

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8 Perucho, Manuel
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