|
1.
|
|
11 p, 1.6 MB |
The Expanding Phenotypical Spectrum of WARS2 -Related Disorder : Four Novel Cases with a Common Recurrent Variant
/
Pauly, Martje G. (University Hospital Schleswig Holstein) ;
Korenke, G. Christoph (University Children's Hospital) ;
Diaw, Sokhna Haissatou (University of Luebeck) ;
Grözinger, Anne (University of Luebeck) ;
Cazurro-Gutiérrez, Ana Laura (Hospital Universitari Vall d'Hebron) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
González, Victoria (Hospital Universitari Vall d'Hebron) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Serrano Antón, Ana Teresa (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Peterlin, Borut (University Medical Centre Ljubljana) ;
Božović, Ivana Babić (University Medical Centre Ljubljana) ;
Maver, Aleš (University Medical Centre Ljubljana) ;
Münchau, Alexander (University of Luebeck) ;
Lohmann, Katja (University of Luebeck) ;
Universitat Autònoma de Barcelona
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome. [...]
2023 -  10.3390/genes14040822
Genes, Vol. 14 (march 2023)
|
|
|
2.
|
|
18 p, 8.9 MB |
Reducing MYC's transcriptional footprint unveils a good prognostic gene signature in melanoma
/
Zacarías-Fluck, Mariano F (Vall d'Hebron Institut d'Oncologia) ;
Massó Vallés, Daniel (Vall d'Hebron Institut d'Oncologia) ;
Giuntini, Fabio (Vall d'Hebron Institut d'Oncologia) ;
González-Larreategui, Íñigo (Vall d'Hebron Institut d'Oncologia) ;
Kaur, Jastrinjan (Vall d'Hebron Institut d'Oncologia) ;
Casacuberta-Serra, Sílvia (Vall d'Hebron Institut d'Oncologia) ;
Jauset, Toni (Vall d'Hebron Institut d'Oncologia) ;
Martínez-Martín, Sandra (Vall d'Hebron Institut d'Oncologia) ;
Martín-Fernández, Génesis (Vall d'Hebron Institut d'Oncologia) ;
Serrano del Pozo, Erika (Vall d'Hebron Institut d'Oncologia) ;
Foradada, Laia (Vall d'Hebron Institut d'Oncologia) ;
Grueso, Judit (Vall d'Hebron Institut d'Oncologia) ;
Nonell, Lara (Vall d'Hebron Institut d'Oncologia) ;
Beaulieu, Marie-Eve (Vall d'Hebron Institut d'Oncologia) ;
Whitfield, Jonathan R. (Vall d'Hebron Institut d'Oncologia) ;
Soucek, Laura (Vall d'Hebron Institut d'Oncologia) ;
Universitat Autònoma de Barcelona
MYC's key role in oncogenesis and tumor progression has long been established for most human cancers. In melanoma, its deregulated activity by amplification of 8q24 chromosome or by upstream signaling coming from activating mutations in the RAS/RAF/MAPK pathway-the most predominantly mutated pathway in this disease-turns MYC into not only a driver but also a facilitator of melanoma progression, with documented effects leading to an aggressive clinical course and resistance to targeted therapy. [...]
2023 - 10.1101/gad.350078.122
Genes & Development, Vol. 37 (april 2023) , p. 303-320
|
|
|
3.
|
|
13 p, 876.0 KB |
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders
/
Spataro, Nino (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Manso, Carmen (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Capdevila, Nuria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Martinez-Glez, Víctor (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Berenguer-Llergo, Antoni (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Reyes, Sara (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Brunet Vega, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Universitat Autònoma de Barcelona
Neurodevelopmental disorders (NDDs) affect 2-5% of the population and approximately 50% of cases are due to genetic factors. Since de novo pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes was designed and applied to 398 patients affected by intellectual disability (ID)/global developmental delay (GDD) and/or autism (ASD). [...]
2023 - 10.3390/genes14030708
Genes, Vol. 14 (march 2023)
|
|
|
4.
|
|
20 p, 3.6 MB |
Improved high-quality genome assembly and annotation of pineapple (Ananas comosus) cultivar md2 revealed extensive haplotype diversity and diversified frs/frf gene family
/
Yow, Ashley (North Carolina State University. Department of Horticultural Science) ;
Bostan, Hamed (North Carolina State University. Plants for Human Health Institute) ;
Castanera, Raúl (Centre de Recerca en Agrigenòmica) ;
Ruggieri, Valentino (Biomeets Consulting (Barcelona)) ;
Mengist, Mengist F. (North Carolina State University. Plants for Human Health Institute) ;
Curaba, Julien (North Carolina State University. Plants for Human Health Institute) ;
Young, Roberto (Standard Fruit de Honduras. Research Department of Dole) ;
Gillitt, Nicholas (David H. Murdock Research Institute) ;
Iorizzo, Massimo (North Carolina State University. Plants for Human Health Institute)
Pineapple (Ananas comosus (L. ) Merr. ) is the second most important tropical fruit crop globally, and 'MD2' is the most important cultivated variety. A high-quality genome is important for molecular-based breeding, but available pineapple genomes still have some quality limitations. [...]
2022 - 10.3390/genes13010052
Genes, Vol. 13, Issue 1 (January 2022) , art. 52
|
|
|
5.
|
|
15 p, 1.8 MB |
Past Connectivity but Recent Inbreeding in Cross River Gorillas Determined Using Whole Genomes from Single Hairs
/
Alvarez-Estape, Marina (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Pawar, Harvinder (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Fontsere, Claudia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Trujillo, Amber (New York University. Department of Anthropology) ;
Gunson, Jessica L. (New York University. Department of Anthropology) ;
Bergl, Richard A. (North Carolina Zoo) ;
Bermejo, Magdalena (Universitat de Barcelona. Departament d'Ecologia i Ciències Ambientals) ;
Linder, Joshua M. (James Madison University. Department of Anthropology) ;
McFarland, Kelley (Triton College) ;
Oates, John F. (University of New York. Department of Anthropology City) ;
Sunderland-Groves, Jacqueline L. (University of British Columbia . Department of Forest Resources Management) ;
Orkin, Joseph (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Higham, James P. (New York University . Department of Anthropology) ;
Viaud-Martinez, Karine A. (Illumina Laboratory Services) ;
Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont)
The critically endangered western gorillas (Gorilla gorilla) are divided into two subspecies: the western lowland (G. g. gorilla) and the Cross River (G. g. diehli) gorilla. Given the difficulty in sampling wild great ape populations and the small estimated size of the Cross River gorilla population, only one whole genome of a Cross River gorilla has been sequenced to date, hindering the study of this subspecies at the population level. [...]
2023 - 10.3390/genes14030743
Genes, Vol. 14, Issue 3 (March 2023) , art. 743
|
|
|
6.
|
|
|
7.
|
|
11 p, 1001.7 KB |
Genetic predisposition to alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
/
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 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 Luís (Universitat Pompeu Fabra) ;
Guigó, Roderic (Barcelona Institute of Science and Technology (BIST)) ;
Navarro, Arcadi (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
|
|
|
8.
|
|
23 p, 2.1 MB |
Deviations from Mendelian Inheritance on Bovine X-Chromosome Revealing Recombination, Sex-of-Offspring Effects and Fertility-Related Candidate Genes
/
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)
|
|
|
9.
|
|
14 p, 1.9 MB |
Maternal Phylogenetic Relationships and Genetic Variation among Rare, Phenotypically Similar Donkey Breeds
/
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)
|
|
|
10.
|
|
39 p, 4.0 MB |
Breaks invisible to the DNA damage response machinery accumulate in ATM-deficient cells
/
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
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
