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Page 1
Variation in genome-wide mutation rates within and between human families.
Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project. Conrad DF, et al. Among authors: torroja c. Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862. Nat Genet. 2011. PMID: 21666693 Free PMC article.
The zebrafish reference genome sequence and its relationship to the human genome.
Howe K, Clark MD, Torroja CF, Torrance J, Berthelot C, Muffato M, Collins JE, Humphray S, McLaren K, Matthews L, McLaren S, Sealy I, Caccamo M, Churcher C, Scott C, Barrett JC, Koch R, Rauch GJ, White S, Chow W, Kilian B, Quintais LT, Guerra-Assunção JA, Zhou Y, Gu Y, Yen J, Vogel JH, Eyre T, Redmond S, Banerjee R, Chi J, Fu B, Langley E, Maguire SF, Laird GK, Lloyd D, Kenyon E, Donaldson S, Sehra H, Almeida-King J, Loveland J, Trevanion S, Jones M, Quail M, Willey D, Hunt A, Burton J, Sims S, McLay K, Plumb B, Davis J, Clee C, Oliver K, Clark R, Riddle C, Elliot D, Threadgold G, Harden G, Ware D, Begum S, Mortimore B, Kerry G, Heath P, Phillimore B, Tracey A, Corby N, Dunn M, Johnson C, Wood J, Clark S, Pelan S, Griffiths G, Smith M, Glithero R, Howden P, Barker N, Lloyd C, Stevens C, Harley J, Holt K, Panagiotidis G, Lovell J, Beasley H, Henderson C, Gordon D, Auger K, Wright D, Collins J, Raisen C, Dyer L, Leung K, Robertson L, Ambridge K, Leongamornlert D, McGuire S, Gilderthorp R, Griffiths C, Manthravadi D, Nichol S, Barker G, Whitehead S, Kay M, Brown J, Murnane C, Gray E, Humphries M, Sycamore N, Barker D, Saunders D, Wallis J, Babbage A, Hammond S, Mashreghi-Mohamm… See abstract for full author list ➔ Howe K, et al. Among authors: torroja cf. Nature. 2013 Apr 25;496(7446):498-503. doi: 10.1038/nature12111. Epub 2013 Apr 17. Nature. 2013. PMID: 23594743 Free PMC article.
Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing.
Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AV, Sánchez-Cabo F, Torroja C, Acín-Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana ML, Romanos E, Cruz R, Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J, Murphy MP, Flores I, Vázquez J, Enríquez JA. Latorre-Pellicer A, et al. Among authors: torroja c. Nature. 2016 Jul 28;535(7613):561-5. doi: 10.1038/nature18618. Epub 2016 Jul 6. Nature. 2016. PMID: 27383793
A sequence-based variation map of zebrafish.
Patowary A, Purkanti R, Singh M, Chauhan R, Singh AR, Swarnkar M, Singh N, Pandey V, Torroja C, Clark MD, Kocher JP, Clark KJ, Stemple DL, Klee EW, Ekker SC, Scaria V, Sivasubbu S. Patowary A, et al. Among authors: torroja c. Zebrafish. 2013 Mar;10(1):15-20. doi: 10.1089/zeb.2012.0848. Zebrafish. 2013. PMID: 23590399 Free PMC article.
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D'Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL. Luxán G, et al. Among authors: torroja c. Nat Med. 2013 Feb;19(2):193-201. doi: 10.1038/nm.3046. Epub 2013 Jan 13. Nat Med. 2013. PMID: 23314057
Corrigendum: Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing.
Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AV, Sánchez-Cabo F, Torroja C, Acín-Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana ML, Romanos E, Cruz R, Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J, Murphy MP, Flores I, Vázquez J, Enríquez JA. Latorre-Pellicer A, et al. Among authors: torroja c. Nature. 2017 Feb 2;542(7639):124. doi: 10.1038/nature20773. Epub 2016 Dec 7. Nature. 2017. PMID: 27926738 No abstract available.
Heteroplasmy of Wild-Type Mitochondrial DNA Variants in Mice Causes Metabolic Heart Disease With Pulmonary Hypertension and Frailty.
Lechuga-Vieco AV, Latorre-Pellicer A, Calvo E, Torroja C, Pellico J, Acín-Pérez R, García-Gil ML, Santos A, Bagwan N, Bonzon-Kulichenko E, Magni R, Benito M, Justo-Méndez R, Simon AK, Sánchez-Cabo F, Vázquez J, Ruíz-Cabello J, Enríquez JA. Lechuga-Vieco AV, et al. Among authors: torroja c. Circulation. 2022 Apr 5;145(14):1084-1101. doi: 10.1161/CIRCULATIONAHA.121.056286. Epub 2022 Mar 3. Circulation. 2022. PMID: 35236094 Free PMC article.
Ablation of the stress protease OMA1 protects against heart failure in mice.
Acin-Perez R, Lechuga-Vieco AV, Del Mar Muñoz M, Nieto-Arellano R, Torroja C, Sánchez-Cabo F, Jiménez C, González-Guerra A, Carrascoso I, Benincá C, Quiros PM, López-Otín C, Castellano JM, Ruíz-Cabello J, Jiménez-Borreguero LJ, Enríquez JA. Acin-Perez R, et al. Among authors: torroja c. Sci Transl Med. 2018 Mar 28;10(434):eaan4935. doi: 10.1126/scitranslmed.aan4935. Sci Transl Med. 2018. PMID: 29593106
35 results