D
David Otaegui
Researcher at Columbia University
Publications - 99
Citations - 3751
David Otaegui is an academic researcher from Columbia University. The author has contributed to research in topics: Population & Single-nucleotide polymorphism. The author has an hindex of 33, co-authored 91 publications receiving 2973 citations. Previous affiliations of David Otaegui include University of California, San Francisco & Columbia University Medical Center.
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Journal ArticleDOI
CircRNAs and cancer: Biomarkers and master regulators.
Esther Arnaiz,Carla Solé,Lorea Manterola,Leire Iparraguirre,David Otaegui,Charles H. Lawrie,Charles H. Lawrie +6 more
TL;DR: The current state of knowledge regarding circRNAs, their synthesis, function, and association with cancer are considered, and some of the challenges that remain to be resolved are reviewed if this emerging class of RNAs are really to become useful in the clinic.
Journal ArticleDOI
Differential micro RNA expression in PBMC from multiple sclerosis patients.
David Otaegui,Sergio E. Baranzini,Rubén Armañanzas,Borja Calvo,Maider Muñoz-Culla,Puya Khankhanian,Iñaki Inza,Jose A. Lozano,Tamara Castillo-Triviño,Ana Asensio,J. Olaskoaga,Adolfo López de Munain +11 more
TL;DR: Analysis of expression patterns of 364 miRNAs in PBMC obtained from multiple sclerosis patients in relapse status, in remission status and healthy controls reveals that two mi RNAs may be relevant at the time of relapse and that another miRNA may be involved in remission.
Journal ArticleDOI
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
Michelangelo Mancuso,Leonardo Salviati,Leonardo Salviati,Sabrina Sacconi,Sabrina Sacconi,David Otaegui,Pilar Camaño,Alberto Marina,S. Bacman,Carlos T. Moraes,Jose Carlo,M Garcia,M. Garcia-Alvarez,L. Monzon,Ali Naini,Michio Hirano,Eduardo Bonilla,A.L. Taratuto,Salvatore DiMauro,Tuan Vu +19 more
TL;DR: Results show that the clinical expression of TK2 mutations is not limited to myopathy and that the myopathic form of MDS is genetically heterogeneous, and further characterize the frequency and clinical spectrum of these mutations.
Journal ArticleDOI
Mitochondrial DNA depletion and dGK gene mutations
Leonardo Salviati,Sabrina Sacconi,Michelangelo Mancuso,Michelangelo Mancuso,David Otaegui,Pilar Camaño,Alberto Marina,Simon S. Rabinowitz,Rebecca Shiffman,Karen Thompson,Claire M. Wilson,Annette Feigenbaum,Ali Naini,Michio Hirano,Eduardo Bonilla,Salvatore DiMauro,Tuan Vu +16 more
TL;DR: The recent discovery of mutations in the deoxyguanosine kinase (dGK) gene in patients with the hepatocerebral form of mitochondrial DNA depletion syndrome prompted as discussed by the authors to screen 21 patients to determine the frequency of dGK mutations, further characterize the clinical spectrum, and correlate genotypes with phenotypes.
Journal ArticleDOI
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
Amets Sáenz,F. Leturcq,Cobo Am,J. J. Poza,Xavier Ferrer,David Otaegui,Pilar Camaño,M. Urtasun,Juan J. Vílchez,E. Gutierrez-Rivas,J.I. Emparanza,Luciano Merlini,C. Paisán,M. Goicoechea,Lorea Blazquez,Bruno Eymard,Hanns Lochmüller,Maggie C. Walter,Carsten G. Bönnemann,Dominique Figarella-Branger,J.-C. Kaplan,Jon Andoni Urtizberea,Jose Felix Marti-Masso,A. López de Munain +23 more
TL;DR: The type of mutation in the CAPN3 gene does not appear to be a risk factor for becoming dependent on a wheelchair at a determined age, and in the cases with two null mutations, there were significantly fewer patients that were able to walk than in the group of patients with at least one missense mutation.