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9 p, 496.9 KB |
Sex Differences in the Association between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers
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Rodas, Gil (Hospital Sant Joan de Déu (Manresa)) ;
Cáceres, Alejandro (Universitat Politècnica de Catalunya. Departament de Matemàtiques) ;
Ferrer, Eva (Hospital Sant Joan de Déu (Manresa)) ;
Balagué-Dobón, Laura (Barcelona Institute for Global Health (ISGlobal)) ;
Osaba, Lourdes (Progenika Biopharma) ;
Lucia, Alejandro (Hospital 12 de Octubre. Instituto de Investigación Sanitaria) ;
González, Juan Ramón (Universitat Autònoma de Barcelona. Departament de Matemàtiques)
Background: Single-nucleotide polymorphisms (SNPs) in collagen genes are predisposing factors for anterior cruciate ligament (ACL) rupture. Although these events are more frequent in females, the sex-specific risk of reported SNPs has not been evaluated. [...]
2023 -  10.3390/genes14010033
Genes, Vol. 14, Issue 1 (January 2023) , art. 33
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11 p, 1001.7 KB |
Genetic predisposition to alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
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Ciampa, Iacopo (Hospital del Sagrat Cor (Barcelona, Catalunya)) ;
Operto, Grégory (Centro de Investigación Biomédica en Red sobre Fragilidad y Envejecimiento Saludable) ;
Falcon, Carles (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ;
Minguillon, Carolina (Centro de Investigación Biomédica en Red sobre Fragilidad y Envejecimiento Saludable) ;
Castro de Moura, Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Piñeyro, David (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Esteller, M (Universitat de Barcelona) ;
Molinuevo, José Luis (Universitat Pompeu Fabra) ;
Guigó, Roderic (Barcelona Institute of Science and Technology (BIST)) ;
Navarro, Arcadi 1969- (Universitat Pompeu Fabra) ;
Gispert, Juan Domingo (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ;
Vilor-Tejedor, Natalia (Erasmus University Medical Center Rotterdam) ;
Universitat Autònoma de Barcelona
This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and genetic information were acquired from the ALFA study. [...]
2021 - 10.3390/genes12060825
Genes, Vol. 12 Núm. 6 (june 2021) , p. 825
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23 p, 2.1 MB |
Deviations from Mendelian Inheritance on Bovine X-Chromosome Revealing Recombination, Sex-of-Offspring Effects and Fertility-Related Candidate Genes
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Id-Lahoucine, Samir (University of Guelph. Department of Animal Biosciences) ;
Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Fonseca, Pablo A. S. (University of Guelph. Department of Animal Biosciences) ;
Suárez-Vega, Aroa (University of Guelph. Department of Animal Biosciences) ;
Schenkel, Flavio S. (University of Guelph. Department of Animal Biosciences) ;
Cánovas, Angela (University of Guelph. Department of Animal Biosciences)
Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. [...]
2022 - 10.3390/genes13122322
Genes, Vol. 13 (december 2022)
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14 p, 1.9 MB |
Maternal Phylogenetic Relationships and Genetic Variation among Rare, Phenotypically Similar Donkey Breeds
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Mazzatenta, Andrea (University G. D'Annunzio of Chieti-Pescara. Imaging and Clinical Sciences Department) ;
Vignoli, Massimo (University of Teramo. Faculty of Veterinary Medicine) ;
Caputo, Maurizio (University of Teramo. Faculty of Veterinary Medicine) ;
Vignola, Giorgio (University of Teramo. Faculty of Veterinary Medicine) ;
Tamburro, Roberto (University of Teramo. Faculty of Veterinary Medicine) ;
De Sanctis, Francesco (University of Verona. Section of Immunology, Department of Medicine) ;
Miró, Jordi (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Bucci, Roberta (University of Teramo. Faculty of Veterinary Medicine) ;
Robbe, Domenico (University of Teramo. Faculty of Veterinary Medicine) ;
Carluccio, Augusto (University of Teramo. Faculty of Veterinary Medicine)
The mitochondrial DNA (mtDNA) D-loop of endangered and critically endangered breeds has been studied to identify maternal lineages, characterize genetic inheritance, reconstruct phylogenetic relations among breeds, and develop biodiversity conservation and breeding programs. [...]
2021 - 10.3390/genes12081109
Genes, Vol. 12 (july 2021)
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39 p, 4.0 MB |
Breaks invisible to the DNA damage response machinery accumulate in ATM-deficient cells
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Martín Flix, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Terradas, Mariona (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Iliakis, George (University Duisburg-Essen Medical School) ;
Tusell Padrós, Laura (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Genescà, Anna (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
After irradiation, ATM defective cells accumulate unrepaired double strand breaks (DSBs) for several cell divisions. At the chromosome level, unresolved DSBs appear as chromosome breaks that can be efficiently scored by using telomeric and mFISH probes. [...]
2009 - 10.1002/gcc.20679
Genes Chromosomes and Cancer, Vol. 48, Issue 9 (September 2009) , p. 745-759
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9 p, 583.0 KB |
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review
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Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ;
Morte, Beatriz (The SIDE Consortium: Spanish Intellectual Disability Exome Consortium) ;
Nevado, Julián (Hospital Universitario La Paz (Madrid)) ;
Martinez-Glez, Víctor (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Santos-Simarro, Fernando (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
García-Miñaúr, Sixto (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Palomares-Bralo, María (Hospital Universitario La Paz (Madrid)) ;
Pacio-Míguez, Marta (Hospital Universitario La Paz (Madrid)) ;
Gómez, Beatriz (Spanish Intellectual Disability Exome Consortium) ;
Arias, Pedro (Hospital Universitario La Paz (Madrid)) ;
Alcochea, Alba (Spanish Federation for Rare Diseases) ;
Carrión, Juan (Spanish Federation for Rare Diseases) ;
Arias, Patricia (Spanish Federation for Rare Diseases) ;
Almoguera, Berta (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
López-Grondona, Fermina (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Lorda-Sanchez, Isabel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Galán-Gómez, Enrique (Hospital Materno Infantil de Badajoz) ;
Valenzuela, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Méndez Perez, María Pilar (Hospital Materno Infantil de Badajoz) ;
Cusco, Ivon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Barros, Francisco (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pié, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ramos, Sergio (Hospital Universitario La Paz (Madrid)) ;
Ramos, Feliciano J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Kuechler, Alma (University Hospital Essen (Alemanya)) ;
Tizzano, Eduardo F (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ayuso, Carmen (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Kaiser, Frank J. (University Hospital Essen (Alemanya)) ;
Pérez-Jurado, Luis Alberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Carracedo, Ángel (Universidade de Santiago de Compostela) ;
Lapunzina, Pablo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Universitat Autònoma de Barcelona
Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. [...]
2021 - 10.3390/genes12050738
Genes, Vol. 12 (may 2021)
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16 p, 2.4 MB |
TYK2 Variants in B-Acute Lymphoblastic Leukaemia
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Turrubiartes-Martínez, Edgar (Instituto de Investigación Hospital Universitario de la Princesa) ;
Bodega-Mayor, Irene (Instituto de Investigación Hospital Universitario de la Princesa) ;
Delgado-Wicke, Pablo (Instituto de Investigación Hospital Universitario de la Princesa) ;
Molina-Jiménez, Francisca (Instituto de Investigación Hospital Universitario de la Princesa) ;
Casique-Aguirre, Diana (Latin University of Mexico) ;
González-Andrade, Martín (Universidad Nacional Autónoma de México) ;
Rapado, Inmaculada (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Camós, Mireia (University Hospital Sant Joan de Déu) ;
Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Barragán, Eva (Hospital Universitari i Politècnic La Fe (València)) ;
Ramírez, Manuel (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Aguado, Beatriz (Instituto de Investigación Hospital Universitario de la Princesa) ;
Figuera, Ángela (Instituto de Investigación Hospital Universitario de la Princesa) ;
Martínez-López, Joaquín (Complutense University of Madrid) ;
Fernández-Ruiz, Elena (Universidad Autónoma de Madrid) ;
Universitat Autònoma de Barcelona
B-cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the Janus kinase (JAK) gene family. Among them, tyrosine kinase 2 (TYK2) is involved in signal transduction of cytokines such as interferon (IFN) α/β through IFN−α/β receptor alpha chain (IFNAR1). [...]
2020 - 10.3390/genes11121434
Genes, Vol. 11 (november 2020)
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