Human Molecular Genetics, 0964-6906

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  1. Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells

    Lee, M. Y., Garvey, S. M., Baras, A. S., Lemmon, J. A., Maria Gomez, Bortz, P. D. S., Daum, G., LeBoeuf, R. C. & Wamhoff, B. R., 2010, In : Human Molecular Genetics. 19, 3, p. 468-479

    Research output: Contribution to journalArticle

  2. The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias

    Henrik Lilljebjörn, Soneson, C., Anna Andersson, Heldrup, J., Behrendtz, M., Kawamata, N., Ogawa, S., Koeffler, H. P., Felix Mitelman, Bertil Johansson, Fontes, M. & Thoas Fioretos, 2010, In : Human Molecular Genetics. 19, 16, p. 3150-3158

    Research output: Contribution to journalArticle

  3. Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease.

    Lotharius, J. & Brundin, P., 2002, In : Human Molecular Genetics. 11, 20, p. 2395-2407

    Research output: Contribution to journalReview article

  4. Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin

    Marshall, J. L., Oh, J., Chou, E., Lee, J. A., Johan Holmberg, Burkin, D. J. & Crosbie-Watson, R. H., 2014, In : Human Molecular Genetics. 24, 7, p. 2011-2022 ddu615.

    Research output: Contribution to journalArticle

  5. Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

    Moayyeri, A., Hsu, Y-H., Karasik, D., Estrada, K., Xiao, S-M., Nielson, C., Srikanth, P., Giroux, S., Wilson, S. G., Zheng, H-F., Smith, A. V., Pye, S. R., Leo, P. J., Teumer, A., Hwang, J-Y., Ohlsson, C., McGuigan, F., Minster, R. L., Hayward, C., Olmos, J. M. & 110 othersLyytikaeinen, L-P., Lewis, J. R., Swart, K. M. A., Masi, L., Oldmeadow, C., Holliday, E. G., Cheng, S., van Schoor, N. M., Harvey, N. C., Kruk, M., Fabiola Del Greco, M., Igl, W., Trummer, O., Grigoriou, E., Luben, R., Liu, C-T., Zhou, Y., Oei, L., Medina-Gomez, C., Zmuda, J., Tranah, G., Brown, S. J., Williams, F. M., Soranzo, N., Jakobsdottir, J., Siggeirsdottir, K., Holliday, K. L., Hannemann, A., Go, M. J., Garcia, M., Polasek, O., Laaksonen, M., Zhu, K., Enneman, A. W., McEvoy, M., Peel, R., Sham, P. C., Jaworski, M., Johansson, A., Hicks, A. A., Pludowski, P., Scott, R., Dhonukshe-Rutten, R. A. M., van der Velde, N., Kaehoenen, M., Viikari, J. S., Sievaenen, H., Raitakari, O. T., Gonzalez-Macias, J., Hernandez, J. L., Mellstroem, D., Ljunggren, O., Cho, Y. S., Voelker, U., Nauck, M., Homuth, G., Voelzke, H., Haring, R., Brown, M. A., McCloskey, E., Nicholson, G. C., Eastell, R., Eisman, J. A., Jones, G., Reid, I. R., Dennison, E. M., Wark, J., Boonen, S., Vanderschueren, D., Wu, F. C. W., Aspelund, T., Richards, J. B., Bauer, D., Hofman, A., Khaw, K-T., Dedoussis, G., Obermayer-Pietsch, B., Gyllensten, U., Pramstaller, P. P., Lorenc, R. S., Cooper, C., Kung, A. W. C., Lips, P., Alen, M., Attia, J., Luisa Brandi, M., de Groot, L. C. P. G. M., Lehtimaeki, T., Riancho, J. A., Campbell, H., Liu, Y., Harris, T. B., Kristina Åkesson, Magnus Karlsson, Lee, J-Y., Wallaschofski, H., Duncan, E. L., O'Neill, T. W., Gudnason, V., Spector, T. D., Rousseau, F., Orwoll, E., Cummings, S. R., Wareham, N. J., Rivadeneira, F., Uitterlinden, A. G., Prince, R. L., Kiel, D. P., Reeve, J. & Kaptoge, S. K., 2014, In : Human Molecular Genetics. 23, 11, p. 3054-3068

    Research output: Contribution to journalArticle

  6. Role of WT1-ZNF224 interaction in the expression of apoptosis-regulating genes

    Montano, G., Cesaro, E., Fattore, L., Karina Vidovic, Palladino, C., Crescitelli, R., Izzo, P., Turco, M. C. & Costanzo, P., 2013, In : Human Molecular Genetics. 22, 9, p. 1771-1782

    Research output: Contribution to journalArticle

  7. Gene×dietary pattern interactions in obesity: analysis of up to 68,317 adults of European ancestry.

    Nettleton, J. A., Follis, J. L., Ngwa, J. S., Smith, C. E., Ahmad, S., Tanaka, T., Wojczynski, M. K., Voortman, T., Lemaitre, R. N., Kristiansson, K., Nuotio, M-L., Houston, D. K., Perälä, M-M., Qi, Q., Sonestedt, E., Manichaikul, A., Kanoni, S., Ganna, A., Mikkilä, V., North, K. E. & 51 othersSiscovick, D. S., Harald, K., McKeown, N. M., Johansson, I., Rissanen, H., Liu, Y., Lahti, J., Hu, F. B., Bandinelli, S., Rukh, G., Rich, S., Booij, L., Dmitriou, M., Ax, E., Raitakari, O., Mukamal, K., Männistö, S., Hallmans, G., Jula, A., Ulrika Ericson, Jacobs, D. R., van Rooij, F. J. A., Deloukas, P., Sjögren, P., Kähönen, M., Djousse, L., Perola, M., Barroso, I., Hofman, A., Stirrups, K., Viikari, J., Uitterlinden, A. G., Kalafati, I. P., Franco, O. H., Mozaffarian, D., Salomaa, V., Borecki, I. B., Knekt, P., Kritchevsky, S. B., Eriksson, J. G., Dedoussis, G. V., Qi, L., Ferrucci, L., Marju Orho-Melander, Zillikens, M. C., Ingelsson, E., Lehtimäki, T., Frida Renström, Cupples, L. A., Loos, R. & Paul Franks, 2015, In : Human Molecular Genetics. 24, 16, p. 4728-4738

    Research output: Contribution to journalArticle

  8. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

    Nuber, U., Kriaucionis, S., Roloff, T. C., Guy, J., Selfridge, J., Steinhoff, C., Schulz, R., Lipkowitz, B., Ropers, H. H., Holmes, M. C. & Bird, A., 2005, In : Human Molecular Genetics. 14, 15, p. 2247-2256

    Research output: Contribution to journalArticle

  9. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)

    Panagopoulos, I., Thoas Fioretos, Isaksson, M., Samuelsson, U., Billström, R., Strömbeck, B., Felix Mitelman & Bertil Johansson, 2001, In : Human Molecular Genetics. 10, 4, p. 395-404

    Research output: Contribution to journalArticle

  10. A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa

    Paquet-Durand, F., Beck, S., Michalakis, S., Goldmann, T., Huber, G., Muehlfriedel, R., Trifunovic, D., Fischer, M. D., Fahl, E., Duetsch, G., Becirovic, E., Wolfrum, U., van Veen, T., Biel, M., Tanimoto, N. & Seeliger, M. W., 2011, In : Human Molecular Genetics. 20, 5, p. 941-947

    Research output: Contribution to journalArticle

  11. Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

    Parsons, C. A., Mroczkowski, H. J., Fiona E A McGuigan, Albagha, O. M. E., Manolagas, S., Reid, D. M., Ralston, S. H. & Shmookler Reis, R. J., 2005 Nov 1, In : Human Molecular Genetics. 14, 21, p. 3141-8 8 p.

    Research output: Contribution to journalArticle

  12. The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

    Kajsa Paulsson, Haferlach, C., Fonatsch, C., Hagemeijer, A., Klarskov Andersen, M., Slovak, M. L. & Bertil Johansson, 2010, In : Human Molecular Genetics. 19, p. 1507-1514

    Research output: Contribution to journalArticle

  13. Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

    Perry, J. R. B., Weedon, M. N., Langenberg, C., Jackson, A. U., Lyssenko, V., Sparso, T., Thorleifsson, G., Grallert, H., Ferrucci, L., Maggio, M., Paolisso, G., Walker, M., Palmer, C. N. A., Payne, F., Young, E., Herder, C., Narisu, N., Morken, M. A., Bonnycastle, L. L., Owen, K. R. & 38 othersShields, B., Knight, B., Bennett, A., Groves, C. J., Ruokonen, A., Jarvelin, M. R., Pearson, E., Pascoe, L., Ferrannini, E., Bornstein, S. R., Stringham, H. M., Scott, L. J., Kuusisto, J., Peter Nilsson, Neptin, M., Gjesing, A. P., Pisinger, C., Lauritzen, T., Sandbaek, A., Sampson, M., Magic, E. Z., Lindgren, C. M., Steinthorsdottir, V., Thorsteinsdottir, U., Hansen, T., Schwarz, P., Illig, T., Laakso, M., Stefansson, K., Morris, A. D., Leif Groop, Pedersen, O., Boehnke, M., Barroso, I., Wareham, N. J., Hattersley, A. T., McCarthy, M. I. & Frayling, T. M., 2010, In : Human Molecular Genetics. 19, 3, p. 535-544

    Research output: Contribution to journalArticle

  14. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

    Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M-G., Eon-Marchais, S., Stoppa-Lyonnet, D. & 76 othersAndrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Anders Kvist, Hans Ehrencrona, Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., 2015, In : Human Molecular Genetics. 24, 18, p. 5345-5355

    Research output: Contribution to journalArticle

  15. Orexin loss in Huntington's disease.

    Åsa Petersén, Gil, J., Maat-Schieman, M. L. C., Maria Björkqvist, Tanila, H., Araújo, I. M., Ruben Smith, Popovic, N., Nils Wierup, Norlén, P., Jia-Yi Li, Roos, R. A., Sundler, F., Hindrik Mulder & Brundin, P., 2005, In : Human Molecular Genetics. 14, 1, p. 39-47

    Research output: Contribution to journalArticle

  16. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration

    Åsa Petersén, Larsen, K. E., Behr, G. G., Romero, N., Przedborski, S., Brundin, P. & Sulzer, D., 2001, In : Human Molecular Genetics. 10, 12, p. 1243-1254

    Research output: Contribution to journalArticle

  17. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

    Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Maria Råstam, Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A. & Leboyer, M., 1999, In : Human Molecular Genetics. 8, 5, p. 805-812

    Research output: Contribution to journalArticle

  18. Phenotype mining in CNV carriers from a population cohort

    Pietiläinen, O. P. H., Rehnström, K., Jakkula, E., Service, S. K., Congdon, E., Carola Tilgmann, Hartikainen, A. L., Taanila, A., Heikura, U., Paunio, T., Ripatti, S., Jarvelin, M. R., Isohanni, M., Sabatti, C., Palotie, A., Freimer, N. B. & Peltonen, L., 2011 Jul, In : Human Molecular Genetics. 20, 13, p. 2686-2695 10 p., ddr162.

    Research output: Contribution to journalArticle

  19. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

    Pirog-Garcia, K. A., Meadows, R. S., Knowles, L., Heinegård, D., Thornton, D. J., Kadler, K. E., Boot-Handford, R. P. & Briggs, M. D., 2007, In : Human Molecular Genetics. 16, 17, p. 2072-2088

    Research output: Contribution to journalArticle

  20. Tissue-specific alternative splicing of TCF7L2

    Prokunina-Olsson, L., Welch, C., Hansson, O., Adhikari, N., Scott, L. J., Usher, N., Tong, M., Sprau, A., Swift, A., Bonnycastle, L. L., Erdos, M. R., He, Z., Saxena, R., Harmon, B., Kotova, O., Hoffman, E. P., Altshuler, D., Groop, L., Boehnke, M., Collins, F. S. & 1 othersHall, J. L., 2009, In : Human Molecular Genetics. 18, 20, p. 3795-3804

    Research output: Contribution to journalArticle

  21. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

    Purrington, K. S., Slettedahl, S., Bolla, M. K., Michailidou, K., Czene, K., Nevanlinna, H., Bojesen, S. E., Andrulis, I. L., Cox, A., Hall, P., Carpenter, J., Yannoukakos, D., Haiman, C. A., Fasching, P. A., Mannermaa, A., Winqvist, R., Brenner, H., Lindblom, A., Chenevix-Trench, G., Benitez, J. & 143 othersSwerdlow, A., Kristensen, V., Guénel, P., Meindl, A., Darabi, H., Eriksson, M., Fagerholm, R., Aittomäki, K., Blomqvist, C., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Wang, X., Olswold, C., Olson, J. E., Mulligan, A. M., Knight, J. A., Tchatchou, S., Reed, M. W. R., Cross, S. S., Liu, J., Li, J., Humphreys, K., Clarke, C., Scott, R., Fostira, F., Fountzilas, G., Konstantopoulou, I., Henderson, B. E., Schumacher, F., Le Marchand, L., Ekici, A. B., Hartmann, A., Beckmann, M. W., Hartikainen, J. M., Kosma, V-M., Kataja, V., Jukkola-Vuorinen, A., Pylkäs, K., Kauppila, S., Dieffenbach, A. K., Stegmaier, C., Arndt, V., Margolin, S., Balleine, R., Arias Perez, J. I., Zamora, M. P., Menéndez, P., Ashworth, A., Jones, M., Orr, N., Arveux, P., Kerbrat, P., Truong, T., Bugert, P., Toland, A. E., Ambrosone, C. B., Labrèche, F., Goldberg, M. S., Dumont, M., Ziogas, A., Lee, E., Dite, G. S., Apicella, C., Southey, M. C., Long, J., Shrubsole, M., Deming-Halverson, S., Ficarazzi, F., Barile, M., Peterlongo, P., Durda, K., Jaworska-Bieniek, K., Tollenaar, R. A. E. M., Seynaeve, C., Brüning, T., Ko, Y-D., van Deurzen, C. H. M., Martens, J. W. M., Kriege, M., Figueroa, J. D., Chanock, S. J., Lissowska, J., Tomlinson, I., Kerin, M. J., Miller, N., Schneeweiss, A., Tapper, W. J., Gerty, S. M., Durcan, L., McLean, C., Milne, R. L., Baglietto, L., Dos Santos Silva, I., Fletcher, O., Johnson, N., Van't Veer, L. J., Cornelissen, S., Asta Försti, Torres, D., Rüdiger, T., Rudolph, A., Flesch-Janys, D., Nickels, S., Weltens, C., Floris, G., Moisse, M., Dennis, J., Wang, Q., Dunning, A. M., Shah, M., Brown, J., Simard, J., Anton-Culver, H., Neuhausen, S. L., Hopper, J. L., Bogdanova, N., Dörk, T., Zheng, W., Radice, P., Jakubowska, A., Lubinski, J., Devillee, P., Brauch, H., Hooning, M., García-Closas, M., Sawyer, E., Burwinkel, B., Marmee, F., Eccles, D. M., Giles, G. G., Peto, J., Schmidt, M., Broeks, A., Hamann, U., Chang-Claude, J., Lambrechts, D., Pharoah, P. D. P., Easton, D., Pankratz, V. S., Slager, S., Vachon, C. M. & Couch, F. J., 2014, In : Human Molecular Genetics. 23, 22, p. 6034-6046

    Research output: Contribution to journalArticle

  22. FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.

    Qi, Q., Kilpeläinen, T. O., Downer, M. K., Tanaka, T., Smith, C. E., Sluijs, I., Sonestedt, E., Chu, A. Y., Renström, F., Lin, X., Angquist, L. H., Huang, J., Liu, Z., Li, Y., Asif Ali, M., Xu, M., Ahluwalia, T. S., Boer, J. M. A., Chen, P., Daimon, M. & 89 othersEriksson, J., Perola, M., Friedlander, Y., Gao, Y-T., Heppe, D. H. M., Holloway, J. W., Houston, D. K., Kanoni, S., Kim, Y-M., Laaksonen, M. A., Jääskeläinen, T., Lee, N. R., Lehtimäki, T., Lemaitre, R. N., Lu, W., Luben, R. N., Manichaikul, A., Männistö, S., Marques-Vidal, P., Monda, K. L., Ngwa, J. S., Perusse, L., van Rooij, F. J. A., Xiang, Y-B., Wen, W., Wojczynski, M. K., Zhu, J., Borecki, I. B., Bouchard, C., Cai, Q., Cooper, C., Dedoussis, G. V., Deloukas, P., Ferrucci, L., Forouhi, N. G., Hansen, T., Christiansen, L., Hofman, A., Johansson, I., Jørgensen, T., Karasawa, S., Khaw, K-T., Kim, M-K., Kristiansson, K., Li, H., Lin, X., Liu, Y., Lohman, K. K., Long, J., Mikkilä, V., Mozaffarian, D., North, K., Pedersen, O., Raitakari, O., Rissanen, H., Tuomilehto, J., van der Schouw, Y. T., Uitterlinden, A. G., Carola Zillikens, M., Franco, O. H., Shyong Tai, E., Ou Shu, X., Siscovick, D. S., Toft, U., Monique Verschuren, W. M., Vollenweider, P., Wareham, N. J., Witteman, J. C. M., Zheng, W., Ridker, P. M., Kang, J. H., Liang, L., Jensen, M. K., Curhan, G. C., Pasquale, L. R., Hunter, D. J., Mohlke, K. L., Uusitupa, M., Adrienne Cupples, L., Rankinen, T., Marju Orho-Melander, Wang, T., Chasman, D. I., Paul Franks, Sørensen, T. I. A., Hu, F. B., Loos, R. J. F., Nettleton, J. A. & Qi, L., 2014, In : Human Molecular Genetics. 23, 25, p. 6961-6972

    Research output: Contribution to journalArticle

  23. Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

    Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F. F., Ebert, A-K., Bartels, E., Rösch, W., Boemers, T. M., Hirsch, K., Schmiedeke, E., Meesters, C., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjöld, A., Barker, G., Clementson Kockum, C., Zwink, N. & 13 othersHolmdahl, G., Läckgren, G., Jenetzky, E., Feitz, W. F., Marcelis, C., Wijers, C. H. W., van Rooij, I. A. L. M., Gearhart, J. P., Herrmann, B. G., Ludwig, M., Boyadjiev, S. A., Nöthen, M. M. & Mattheisen, M., 2014, In : Human Molecular Genetics. 23, 20, p. 5536-5544

    Research output: Contribution to journalArticle

  24. High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes

    Ribbhammar, U., Flornes, L., Backdahl, L., Holger Luthman, Fossum, S. & Lorentzen, JC., 2003, In : Human Molecular Genetics. 12, 17, p. 2087-2096

    Research output: Contribution to journalArticle

  25. Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood.

    Tina Rönn, Petr Volkov, Gillberg, L., Kokosar, M., Alexander Perfilyev, Jacobsen, A. L., Jørgensen, S. W., Brøns, C., Jansson, P-A., Karl-Fredrik Eriksson, Pedersen, O., Hansen, T., Leif Groop, Stener-Victorin, E., Allan Vaag, Emma A Nilsson & Charlotte Ling, 2015, In : Human Molecular Genetics. 24, 13, p. 3792-3813

    Research output: Contribution to journalArticle