UAB Digital Repository of Documents 31 records found  1 - 10nextend  jump to record: Search took 0.00 seconds. 
1.
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  
2.
32 p, 1.1 MB Behavior Problems and Social Competence in Fragile X Syndrome : A Systematic Review / Cregenzán-Royo, Olga (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Brun-Gasca, Carme (Parc Taulí Hospital Universitari) ; Fornieles Deu, Albert (Universitat Autònoma de Barcelona. Departament de Psicobiologia i de Metodologia de Ciències de la Salut)
Fragile X syndrome (FXS) causes intellectual disability and is the known leading cause of autism. Common problems in FXS include behavior and social problems. Along with syndromic characteristics and autism comorbidity, environmental factors might influence these difficulties. [...]
2022 - 10.3390/genes13020280
Genes, Vol. 13 (january 2022)  
3.
9 p, 583.0 KB Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review / Tenorio-Castaño, 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) ; 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 (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)  
4.
16 p, 2.4 MB TYK2 Variants in B-Acute Lymphoblastic Leukaemia / 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 (Autonomous National University of 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 de València) ; Ramírez, Manuel (Hospital Infantil Universitario Niño Jesús) ; 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)  
5.
21 p, 1.8 MB Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations / Cismaru, Anca Liliana (University of Bern) ; Rudin, Deborah (University of Basel) ; Ibañez, Luisa (Hospital Universitari Vall d'Hebron) ; Liakoni, Evangelia (University of Bernd) ; Bonadies, Nicolas (Inselspital Bern University Hospital) ; Kreutz, Reinhold (Charité-Universitätsmedizin Berlin) ; Carvajal, Alfonso (Universidad de Valladolid) ; Lucena, Maria Isabel (Instituto de Investigación Biomédica de Málaga) ; Martin, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ; Sancho Ponce, Esther (Hospital General de Catalunya) ; Molokhia, Mariam (King's College) ; Eriksson, Niclas (Uppsala University) ; Krähenbühl, Stephan (University Hospital Basel (Suïssa)) ; Largiadèr, Carlo R. (Bern University Hospital) ; Haschke, Manuel (University of Bern) ; Hallberg, Pär (Uppsala University) ; Wadelius, Mia (Uppsala University) ; Universitat Autònoma de Barcelona
Agranulocytosis is a rare yet severe idiosyncratic adverse drug reaction to metamizole, an analgesic widely used in countries such as Switzerland and Germany. Notably, an underlying mechanism has not yet been fully elucidated and no predictive factors are known to identify at-risk patients. [...]
2020 - 10.3390/genes11111275
Genes, Vol. 11 (october 2020)  
6.
16 p, 719.7 KB Maternal Transmission Ratio Distortion in Two Iberian Pig Varieties / Vázquez-Gómez, Marta (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; de Hijas Villalba, Melani Martín (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Varona, Luis (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal) ; Ibañez-Escriche, Noelia (Universitat Politècnica de València. Departament de Ciència Animal) ; Rosas, Juan Pablo (Inga Food. Programa de Mejora Genética 'Castúa') ; Negro, Sara (Inga Food. Programa de Mejora Genética 'Castúa') ; Noguera Jiménez, José Luis (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ; Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Transmission ratio distortion (TRD) is defined as the allele transmission deviation from the heterozygous parent to the offspring from the expected Mendelian genotypic frequencies. Although TRD can be a confounding factor in genetic mapping studies, this phenomenon remains mostly unknown in pigs, particularly in traditional breeds (i. [...]
2020 - 10.3390/genes11091050
Genes, Vol. 11 (september 2020)  
7.
3 p, 180.5 KB Special Issue "Genetic Advances in Neuromuscular Disorders : From Gene Identification to Gene Therapy" / Arechavala-Gomeza, Virginia (Ikerbasque, Basque Foundation for Science, Bilbao) ; Gonzalez-Quereda, L. (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
2021 - 10.3390/genes12020242
Genes, Vol. 12 (february 2021)  
8.
12 p, 620.2 KB Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention / Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ; Cabana-Domínguez, Judit (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kappel, Djenifer B. (Cardiff University) ; Torrico, Bàrbara (Institut de Recerca Sant Joan de Déu) ; Weber, Heike (University Hospital Würzburg) ; Lesch, Klaus-Peter (I.M Sechenov First Moscow State Medical University) ; Lao, Oscar (Universitat Pompeu Fabra) ; Reif, Andreas (University Hospital of Frankfurt (Alemanya)) ; Cormand, Bru (Institut de Recerca Sant Joan de Déu) ; Universitat Autònoma de Barcelona
Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. [...]
2021 - 10.3390/genes13010093
Genes, Vol. 13 (december 2021)  
9.
10 p, 471.8 KB Additive and Dominance Genomic Analysis for Litter Size in Purebred and Crossbred Iberian Pigs / Srihi, Houssemeddine (Instituto Agroalimentario de Aragón) ; Noguera, José Luis (Universitat de Lleida. Departament de Producció Animal) ; Topayan, Victoria (Universitat Politècnica de València. Departamento de Ciència Animal) ; Martín de Hijas, Melani (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Ibañez-Escriche, Noelia (Universitat Politècnica de València. Departamento de Ciència Animal) ; Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Vázquez-Gómez, Marta (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Martínez-Castillero, María (Instituto Agroalimentario de Aragón) ; Rosas, Juan Pablo (INGA FOOD. Programa de Mejora Genética "Castúa") ; Varona, Luis (Instituto Agroalimentario de Aragón)
INGA FOOD S. A. , as a Spanish company that produces and commercializes fattened pigs, has produced a hybrid Iberian sow called CASTÚA by crossing the Retinto and Entrepelado varieties. The selection of the parental populations is based on selection criteria calculated from purebred information, under the assumption that the genetic correlation between purebred and crossbred performance is high; however, these correlations can be less than one because of a GxE interaction or the presence of non-additive genetic effects. [...]
2021 - 10.3390/genes13010012
Genes, Vol. 13 (december 2021)  
10.
14 p, 1.7 MB Generating new fanca-deficient hnscc cell lines by genomic editing recapitulates the cellular phenotypes of fanconi anemia / Errazquin, Ricardo (Molecular Oncology Unit. CIEMAT) ; Sieiro, Esther (Molecular Oncology Unit. CIEMAT) ; Moreno Sánchez, Pilar (Molecular Oncology Unit. CIEMAT) ; Ramírez de Haro, Ma. José (Institut d'Investigació Biomèdica Sant Pau) ; Lorz, Corina (Centro de Investigación Biomédica en Red de Cáncer) ; Peral, Jorge (Molecular Oncology Unit. CIEMAT) ; Ortiz, Jessica (Molecular Oncology Unit. CIEMAT) ; Casado, José A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Roman-Rodriguez, Francisco J. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Hanenberg, Helmut (Heinrich Heine University) ; Río, Paula (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Segrelles, Carmen (Centro de Investigación Biomédica en Red de Cáncer) ; Garcia-Escudero, Ramon (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Fanconi anemia (FA) patients have an exacerbated risk of head and neck squamous cell carcinoma (HNSCC). Treatment is challenging as FA patients display enhanced toxicity to standard treatments, including radio/chemotherapy. [...]
2021 - 10.3390/genes12040548
Genes, Vol. 12 Núm. 4 (april 2021) , p. 548  

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