Javier Granados Riveron

Contact

• workRoom Lab C14 - David Brook - Medical School
  Queen's Medical Centre
  Nottingham
  NG7 2UH
  UK
• work0115 823 0314
• Javier.Granados@nottingham.ac.uk

Research Summary

My research revolves around the contribution of genetics factors over human disease, especially Congenital Heart Disease (CHD). CHD is the most common birth defects in humans and it is thought to be… read more

Selected Publications

• GRANADOS-RIVERON JT and BROOK JD, FORMATION, CONTRACTION AND MECHANOTRANSDUCTION OF MYOFIBRILS IN CARDIAC DEVELOPMENT: CLUES FROM GENETICS Biochemistry Research International. (In Press.)
• GOODSHIP JA, HALL D, TOPF A, MAMASOULA C, GRIFFIN H, RAHMAN TJ, GLEN E, TAN H, PALOMINO DOZA J, RELTON CL, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK D, GRANADOS-RIVERON J, BU'LOCK FA, O'SULLIVAN J, STUART AG, PARSONS J, CORDELL HJ and KEAVNEY B, 2012. Common variant in the ptpn11 gene contributes to the risk of tetralogy of fallot. Circulation. Cardiovascular genetics. (In Press.)
• GRANADOS-RIVERON, J.T., POPE, M., BU’LOCK, F.A., THORNBOROUGH, C., EASON, J., SETCHFIELD, K., KETLEY, A., KIRK, E.P., FATKIN, D., FENELEY, M.P., HARVEY, R.P. and BROOK, J.D., 2012. Combined mutation screening of NKX2-5, GATA4 and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations Congenital Heart Disease. 7(2), 151
• GRANADOS-RIVERON JT and BROOK JD, 2012. The Impact of Mechanical Forces in Heart Morphogenesis Circulation: Cardiovascular Genetics. 5(1), 132

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Current Research

My research revolves around the contribution of genetics factors over human disease, especially Congenital Heart Disease (CHD). CHD is the most common birth defects in humans and it is thought to be responsible for the majority of antenatal loses. CHD results from deficient cardiac development, a complex process which is not completely understood. CHD is also a complex trait, as both environmental and genetic factors have been implicated in its pathogenesis. The etiology of CHD has a strong genetic component, as shown by extensive epidemiological studies in large cohorts. In approximately one in four cases, CHD occurs associated with other congenital defects within a single-gene disorder (e. g. Holt-Oram syndrome), sporadic malformative complex (e.g. VACTERL association) or as a consequence of a chromosomal abnormality (e. g. trisomy 21). Cases of isolated CHD appear mainly as sporadic events. However, a small fraction present as familial cases, often showing Mendelian segregation with widely variable penetrance. Mendelian non-syndromic CHD is known to be caused by mutations of genes encoding transcription factors and, notably, muscle proteins expressed in the developing heart or great vessels like ACTC1, MYH6, MYH7 and MYH11. Recently, my research has been focused in identifying novel mutations associated to CHD.

• GRANADOS-RIVERON JT and BROOK JD, 2012. The Impact of Mechanical Forces in Heart Morphogenesis Circulation: Cardiovascular Genetics. 5(1), 132
• GOODSHIP JA, HALL D, TOPF A, MAMASOULA C, GRIFFIN H, RAHMAN TJ, GLEN E, TAN H, PALOMINO DOZA J, RELTON CL, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK D, GRANADOS-RIVERON J, BU'LOCK FA, O'SULLIVAN J, STUART AG, PARSONS J, CORDELL HJ and KEAVNEY B, 2012. Common variant in the ptpn11 gene contributes to the risk of tetralogy of fallot. Circulation. Cardiovascular genetics. (In Press.)
• GRANADOS-RIVERON, J.T., POPE, M., BU’LOCK, F.A., THORNBOROUGH, C., EASON, J., SETCHFIELD, K., KETLEY, A., KIRK, E.P., FATKIN, D., FENELEY, M.P., HARVEY, R.P. and BROOK, J.D., 2012. Combined mutation screening of NKX2-5, GATA4 and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations Congenital Heart Disease. 7(2), 151
• SOEMEDI R, TOPF A, WILSON IJ, DARLAY R, RAHMAN T, GLEN E, HALL D, HUANG N, BENTHAM J, BHATTACHARYA S, COSGROVE C, BROOK JD, GRANADOS-RIVERON J, SETCHFIELD K, BU'LOCK F, THORNBOROUGH C, DEVRIENDT K, BRECKPOT J, HOFBECK M, LATHROP M, RAUCH A, BLUE GM, WINLAW DS, HURLES M, SANTIBANEZ-KOREF M, CORDELL HJ, GOODSHIP JA and KEAVNEY BD, 2011. Phenotype-Specific Effect Of Chromosome 1Q21.1 Rearrangements And Gja5 Duplications In 2436 Congenital Heart Disease Patients And 6760 Controls. Human Molecular Genetics. (In Press.)
• GRANADOS-RIVERON, JT, GHOSH, TK, POPE, M, BU'LOCK, F, THORNBOROUGH, C, EASON, J, KIRK, EP, FATKIN, D, FENELEY, MP, HARVEY, RP, ARMOUR, JAL AND BROOK, JD, 2010. alpha-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Human Molecular Genetics. 19, 4007-4016
• GRANADOS RIVERON, J., UDOSEN, I., ROBINSON, T., FURLING, D. and BROOK, J.D., 2009. Assays to screen for drugs to treat myotonic dystrophy Medizinische Genetik. 21(3), 422
• GRIFFIN, H R, HALL, D H, TOPF, A, EDEN, J, STUART, A G, PARSONS, J, PEART, I, DEANFIELD, J E, O'SULLIVAN, J, BABU-NARAYAN, S V, GATZOULIS, M A, BU'LOCK, F, BHATTACHARYA, S, BENTHAM, J, FARRALL, M, GRANADOS RIVERON, J, BROOK, J. D, BURN, J, CORDELL, H. J and GOODSHIP, J. A AND KEAVNEY, B., 2009. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PloS One. 4(3), e4978
• MATSSON, H, EASON, J, BOOKWALTER, C S, KLAR, J, GUSTAVSSON, P, SUNNEGÅRDH, J, ENELL, H, JONZON, A, VIKKULA, M, GUTIERREZ, I, GRANADOS-RIVERON, J, POPE M, BU’LOCK F, COX J: ROBINSON T E, SONG F, BROOK J D, MARSTON S and TRYBUS K M AND DAHL N, 2008. Alpha-cardiac actin mutations produce atrial septal defects. Human Molecular Genetics. 17(2), 256-65
• GRANADOS-RIVERON JT and BROOK JD, FORMATION, CONTRACTION AND MECHANOTRANSDUCTION OF MYOFIBRILS IN CARDIAC DEVELOPMENT: CLUES FROM GENETICS Biochemistry Research International. (In Press.)