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Articles	34 records found 25 - 34 jump to record:	Search took 0.02 seconds.

25.

27 p, 835.3 KB

Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene / Mármol-Sánchez, Emilio (Centre de Recerca en Agrigenòmica) ; Luigi Sierra, Maria Gracia (Centre de Recerca en Agrigenòmica) ; Quintanilla, Raquel (Institut de Recerca i Tecnologia Agroalimentàries) ; Amills i Eras, Marcel (Centre de Recerca en Agrigenòmica)
The sequencing of the pig genome revealed the existence of homozygous individuals for a nonsense mutation in the argininosuccinate synthase 1 (ASS1) gene (rs81212146, c. 944T>A, L315X). Paradoxically, an AA homozygous genotype for this polymorphism is expected to abolish the function of the ASS1 enzyme that participates in the urea cycle, leading to citrullinemia, hyperammonemia, coma and death. [...]
2020 - DOI (Digital Object Identifier)

10.1111/age.12877
Animal Genetics, Vol. 51, Issue 1 (February 2020) , p. 106-110

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26.

23 p, 693.1 KB

An association analysis for 14 candidate genes mapping to meat quality quantitative trait loci in a Duroc pig population reveals that the ATP1A2 genotype is highly associated with muscle electric conductivity / Mármol-Sánchez, Emilio (Centre de Recerca en Agrigenòmica) ; Quintanilla, Raquel (Institut de Recerca i Tecnologia Agroalimentàries) ; Jordana i Vidal, Jordi (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Amills i Eras, Marcel (Centre de Recerca en Agrigenòmica)
In previous GWAS carried out in a Duroc commercial line (Lipgen population), we detected on pig chromosomes 3, 4 and 14 several QTL for gluteus medius muscle redness (GM a*), electric conductivity in the longissimus dorsi muscle (LD CE) and vaccenic acid content in the LD muscle (LD C18:1 n − 7), respectively. [...]
2020 - DOI (Digital Object Identifier)

10.1111/age.12864
Animal Genetics, Vol. 51, Issue 1 (February 2020) , p. 95-100

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27.

8 p, 1.3 MB

COMT-by-sex interaction effect on psychosis proneness / De Castro-Catala, Marta (Universitat de Barcelona. Departament de Biologia Animal) ; Barrantes-Vidal, Neus (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Sheinbaum Frank, Tamara (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Moreno-Fortuny, Artal (Universitat de Barcelona. Departament de Biologia Animal) ; Kwapil, Thomas (University of North Carolina at Greensboro. Department of Psychology) ; Rosa, Araceli (Universitat de Barcelona. Departament de Biologia Animal)
Schizotypy phenotypes in the general population share etiopathogenic mechanisms and risk factors with schizophrenia, supporting the notion of psychosis as a continuum ranging from nonclinical to clinical deviance. [...]
2015 - DOI (Digital Object Identifier)

10.1155/2015/829237
BioMed Research International, Vol. 2015 (2015) , art. 829237

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28.

7 p, 508.5 KB

Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk / Figlioli, Gisella (University of Pisa. Department of Biology) ; Chen, Bowang (German Cancer Research Center (DKFZ). Molecular Genetic Epidemiology (Germany)) ; Elisei, Rossella (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Romei, Cristina (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Campo, Chiara (University of Pisa. Department of Biology (Italy)) ; Cipollini, Monica (University of Pisa. Department of Biology (Italy)) ; Cristaudo, Alfonso (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Bambi, Franco (Blood Centre, Azienda Ospedaliero Universitaria A. Meyer (Italy)) ; Paolicchi, Elisa (University of Pisa. Department of Biology (Italy)) ; Hoffmann, Per (University of Basel (Suïssa). Department of Biomedicine) ; Herms, Stefan (University of Basel (Suïssa). Department of Biomedicine) ; Kalemba, Michał (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Kula, Dorota (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Pastor Benito, Susana (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Velázquez Henar, Antonia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Jarząb, Barbara (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Landi, Stefano (University of Pisa. Department of Biology (Italy)) ; Hemminki, Kari (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden)) ; Gemignani, Federica (University of Pisa. Department of Biology (Italy)) ; Försti, Asta (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden))
A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22. [...]
2015 - DOI (Digital Object Identifier)

10.1038/srep08922
Scientific reports, Vol. 5 (March 2015) , art. 8922

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29.

7 p, 990.3 KB

Rapid genome resequencing of an atoxigenic strain of Aspergillus carbonarius / Cabañes Sáenz, Francisco Javier (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ; Sanseverino, Walter (Sequentia Biotech SL) ; Castellá, Gemma (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ; Bragulat, M. Rosa (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ; Aiese Cigliano, Riccardo (Sequentia Biotech SL) ; Sánchez Bonastre, Armando (Centre de Recerca en Agrigenòmica)
In microorganisms, Ion Torrent sequencing technology has been proved to be useful in whole-genome sequencing of bacterial genomes (5 Mbp). In our study, for the first time we used this technology to perform a resequencing approach in a whole fungal genome (36 Mbp), a non-ochratoxin A producing strain of Aspergillus carbonarius. [...]
2015 - DOI (Digital Object Identifier)

10.1038/srep09086
Scientific reports, Vol. 5 (2015) , art. 9086

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30.

11 p, 955.3 KB

The genome-wide associated candidate gene ZNF804A and psychosis-proneness : evidence of sex-modulated association / De Castro-Catala, Marta (Universitat de Barcelona. Institut de Biomedicina) ; Mora-Solano, Aurea (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Kwapil, Thomas (Department of Psychology, University of Illinois at Champaign-Urbana) ; Cristóbal Narváez, Paula (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Sheinbaum Frank, Tamara (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Racioppi, Anna (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Barrantes-Vidal, Neus (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Rosa, Araceli (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals)
BACKGROUND: The Zinc finger protein 804A (ZNF804A) is a promising candidate gene for schizophrenia and the broader psychosis phenotype that emerged from genome-wide association studies. It is related to neurodevelopment and associated to severe symptoms of schizophrenia and alterations in brain structure, as well as positive schizotypal personality traits in non-clinical samples. [...]
2017 - DOI (Digital Object Identifier)

10.1371/journal.pone.0185072
PloS one, Vol. 12, núm. 9 (2017) , p. e0185072

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31.

13 p, 1.8 MB

Expression analysis of candidate genes for fatty acid composition in adipose tissue and identification of regulatory regions / Revilla Sánchez, Manuel (Centre de Recerca en Agrigenòmica) ; Puig-Oliveras, Anna (Centre de Recerca en Agrigenòmica) ; Crespo-Piazuelo, Daniel (Centre de Recerca en Agrigenòmica) ; Criado Mesas, Lourdes (Centre de Recerca en Agrigenòmica) ; Castelló Farré, Anna (Centre de Recerca en Agrigenòmica) ; Fernández Ávila, Ana Isabel (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (Espanya)) ; Ballester Devis, Maria (Institut de Recerca i Tecnologia Agroalimentàries) ; Folch, Josep M. (Centre de Recerca en Agrigenòmica)
The aim of this work was to study the genetic basis of the backfat expression of lipid-related genes associated with meat quality traits in pigs. We performed a genome-wide association study with the backfat gene expression measured in 44 genes by qPCR and the PorcineSNP60 BeadChip genotypes in 115 Iberian x Landrace backcross animals. [...]
2018 - DOI (Digital Object Identifier)

10.1038/s41598-018-20473-3
Scientific reports, Vol. 8 (February 2018) , art. 2045

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32.

6 p, 225.1 KB

Prognostic role of the LCS6 KRAS variant in locally advanced rectal cancer : results of the EXPERT-C trial / Sclafani, Francesco (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Chau, Ian (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Cunningham, David (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Peckitt, C. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Lampis, Andrea (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Hahne, Jens Claus (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Braconi, Chiara (The Institute of Cancer Research. Division of Cancer Therapeutics (UK)) ; Tabernero, Josep (Hospital Universitari Vall d'Hebron) ; Glimelius, B. (University of Uppsala. Department of Immunology, Genetics and Pathology (Sweden)) ; Cervantes, Andrés (Universitat de València. Departament d'Hematologia i Oncologia Mèdica) ; Begum, Ruwaida (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; González De Castro, David (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Hulkki Wilson, Sanna (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Eltahir, Zakaria (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Wotherspoon, Andrew (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Tait, D. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Brown, Gina (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Oates, J. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Valeri, Nicola (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Universitat Autònoma de Barcelona
Lethal-7 (let-7) is a tumour suppressor miRNA which acts by down-regulating several oncogenes including KRAS. A single-nucleotide polymorphism (rs61764370, T > G base substitution) in the let-7 complementary site 6 (LCS-6) of KRAS mRNA has been shown to predict prognosis in early-stage colorectal cancer (CRC) and benefit from anti-epidermal growth factor receptor monoclonal antibodies in metastatic CRC. [...]
2015 - DOI (Digital Object Identifier)

10.1093/annonc/mdv285
Annals of oncology, Vol. 26, Issue 9 (September 2015) , p. 1936-1941

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33.

10 p, 447.5 KB

Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularization / Duran, Joan (Universitat de Barcelona. Departament de Patologia i Terapèutica Experimental) ; Olavarría, Pilar Sánchez (Departamento de Estadística, Facultad de Ciencias, Universidad de Valparaíso) ; Mola, Marina (Parc de Recerca Biomèdica de Barcelona (PRBB)) ; Götzens, Víctor (Universitat de Barcelona. Departament de Patologia i Terapèutica Experimental) ; Carballo, Julio (Centre Cardiovascular Sant Jordi) ; Pelegrina, Eva Martín (Centre Cardiovascular Sant Jordi) ; Petit, Màrius (Centre Cardiovascular Sant Jordi) ; Abdul-Jawad Altisent, Omar (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Otaegui, Imanol (Hospital Universitari Vall d'Hebron) ; García del Blanco, Bruno (Hospital Universitari Vall d'Hebron) ; García-Dorado, David (Hospital Universitari Vall d'Hebron) ; Reig Vilallonga, Josep (Universitat Autònoma de Barcelona. Departament de Ciències Morfològiques) ; Cordero, Alex (Institut d'Investigació Biomèdica de Bellvitge) ; de Anta, Josep Maria (Universitat de Barcelona. Departament de Patologia i Terapèutica Experimental)
Collateral growth in patients with coronary artery disease (CAD) is highly heterogeneous. Although multiple factors are thought to play a role in collateral development, the contribution of genetic factors to coronary collateral circulation (CCC) is largely unknown. [...]
2015 - DOI (Digital Object Identifier)

10.1186/s12872-015-0027-z
BMC Cardiovascular disorders, Vol. 15 (may 2015)

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34.

30 p, 3.7 MB

Development and preliminary evaluation of a 90 K Axiom® SNP array for the allo-octoploid cultivated strawberry Fragaria × ananassa / Bassil, Nahla (United States Department of Agriculture. National Clonal Germplasm Repository) ; Davis, Thomas M. (University of New Hampshire) ; Zhang, Hailong (University of New Hampshire) ; Ficklin, Stephen (Washington State University) ; Mittmann, Mike (Affymetrix) ; Webster, Teresa (Affymetrix) ; Mahoney, Lise (University of New Hampshire) ; Wood, David (University of New Hampshire) ; Alperin, Elisabeth S. (United States Department of Agriculture. National Clonal Germplasm Repository) ; Rosyara, Umesh R. (Michigan State University) ; Koehorst-vanc Putten, Herma (Wageningen UR. Plant Breeding) ; Monfort, Amparo (Centre de Recerca en Agrigenòmica) ; Sargent, Daniel J. (Fondazione Edmund Mach, Centro di Ricerca e Innovazione) ; Amaya, Iraida (Instituto de Investigación y Formación Agraria y Pesquera) ; Denoyes, Beatrice (Institut national de la recherche agronomique (França). Biologie du Fruit et Pathologie) ; Bianco, Luca (Fondazione Edmund Mach, Centro di Ricerca e Innovazione) ; Van Dijk, Thijs (Wageningen UR. Plant Breeding) ; Pirani, Ali (Affymetrix) ; Iezzoni, Amy (Michigan State University) ; Main, Dorrie (Washington State University) ; Peace, Cameron (Washington State University) ; Yang, Yilong (University of New Hampshire) ; Vance Whitaker, Vance (University of Florida) ; Verma, Sujeet · (University of Florida) ; Bellon, Laurent (Affymetrix) ; Brew, Fiona (Affymetrix) ; Herrera, Raul (Universidad de Talca. Instituto Ciencias Biologicas) ; Van de Weg, Eric (Wageningen UR. Plant Breeding)
Background: A high-throughput genotyping platform is needed to enable marker-assisted breeding in the allo-octoploid cultivated strawberry Fragaria × ananassa. Short-read sequences from one diploid and 19 octoploid accessions were aligned to the diploid Fragaria vesca 'Hawaii 4' reference genome to identify single nucleotide polymorphisms (SNPs) and indels for incorporation into a 90 K Affymetrix® Axiom® array. [...]
2015 - DOI (Digital Object Identifier)

10.1186/s12864-015-1310-1
BMC genomics, Vol. 16 (2015) art. 155

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