Results overview: Found 3 records in 0.01 seconds.
Articles, 3 records found
Articles 3 records found  
1.
14 p, 745.8 KB Functional comparison of XPF missense mutations associated to multiple DNA repair disorders / Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Jia, Nan (Nagoya University. Research Institute of Environmental Medicine) ; Ogi, Tomoo (Nagoya University. Research Institute of Environmental Medicine) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
XPF endonuclease is one of the most important DNA repair proteins. Encoded by XPF/ERCC4, XPF provides the enzymatic activity of XPF-ERCC1 heterodimer, an endonuclease that incises at the 5’ side of various DNA lesions. [...]
2019 - 10.3390/genes10010060
Genes, Vol. 10, Núm. 1 (January 2019) , art. 60  
2.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Barakat, Bushra A.Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital 12 Octubre. Department of Pediatric Endocrinology & Dysmorphology) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; GOSgene (UCL Great Ormond Street Institute of Child Health) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children, Toronto) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children’s Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Center. Department of Genetics) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children’s Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine)
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  
3.
11 p, 1.8 MB Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 / Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Quiles, Paco (Catalan Institute of Oncology) ; Ruiz de Garibay G. (Institut Català d'Oncologia)ge) ; Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Prados-Carvajal, Rosario (Universidad de Sevilla. Departamento de Genética) ; Fernández-Rodríguez, Juana (Institut d'Investigació Biomèdica de Bellvitge) ; García, Nadis (Institut Català d'Oncologia) ; López, Adrià (Institut Català d'Oncologia) ; Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Benítez, Javier (Centro de Investigación biomédica en red de enfermedades raras) ; Salinas, Mónica (Institut Català d'Oncologia) ; Teulé, Àlex (Institut Català d'Oncologia) ; Brunet, Joan (Institut Català d'Oncologia) ; Radice, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Peterlongo, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Schindler, Detlev (Universität Würzburg. Department of Human Genetics) ; Huertas, Pablo (Universidad de Sevilla. Departamento de Genética) ; Puente, Xose P. (Universidad de Oviedo. Department de Bioquímica y Biología Molecular) ; Lázaro, Coxi (Institut Català d'Oncologia) ; Pujana. Miguel Ángel (Institut Català d'Oncologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. [...]
2018 - 10.1038/s41467-018-03433-3
Nature Communications, Vol. 9 (2018) , art. 967  

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