Human Molecular Genetics, 0964-6906

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  1. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype

    Rueda, B., Broen, J., Simeon, C., Hesselstrand, R., Diaz, B., Suarez, H., Ortego-Centeno, N., Riemekasten, G., Fonollosa, V., Vonk, M. C., van den Hoogen, F. H. J., Sanchez-Roman, J., Aguirre-Zamorano, M. A., Garcia-Portales, R., Pros, A., Camps, M. T., Gonzalez-Gay, M. A., Coenen, M. J. H., Airo, P., Beretta, L. & 6 othersScorza, R., van Laar, J., Gonzalez-Escribano, M. F., Nelson, J. L., Radstake, T. R. D. J. & Martin, J., 2009, In : Human Molecular Genetics. 18, 11, p. 2071-2077

    Research output: Contribution to journalArticle

  2. Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

    Schick, U. M., Auer, P. L., Bis, J. C., Lin, H., Wei, P., Pankratz, N., Lange, L. A., Brody, J., Stitziel, N. O., Kim, D. S., Carlson, C. S., Fornage, M., Haessler, J., Hsu, L., Jackson, R. D., Kooperberg, C., Leal, S. M., Psaty, B. M., Boerwinkle, E., Tracy, R. & 24 othersArdissino, D., Shah, S., Willer, C., Loos, R., Olle Melander, Mcpherson, R., Hovingh, K., Reilly, M., Watkins, H., Girelli, D., Fontanillas, P., Chasman, D. I., Gabriel, S. B., Gibbs, R., Nickerson, D. A., Kathiresan, S., Peters, U., Dupuis, J., Wilson, J. G., Rich, S. S., Morrison, A. C., Benjamin, E. J., Gross, M. D. & Reiner, A. P., 2015, In : Human Molecular Genetics. 24, 2, p. 559-571

    Research output: Contribution to journalArticle

  3. A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among

    Schumacher, F. R., Cheng, I., Freedman, M. L., Mucci, L., Allen, N. E., Pollak, M. N., Hayes, R. B., Stram, D. O., Canzian, F., Henderson, B. E., Hunter, D. J., Virtamo, J., Manjer, J., Gaziano, J. M., Kolonel, L. N., Tjonneland, A., Albanes, D., Calle, E. E., Giovannucci, E., Crawford, E. D. & 18 othersHaiman, C. A., Kraft, P., Willett, W. C., Thun, M. J., Marchand, L. L., Kaaks, R., Feigelson, H. S., Bueno-de-Mesquita, H. B., Palli, D., Riboli, E., Lund, E., Amiano, P., Andriole, G., Dunning, A. M., Trichopoulos, D., Stampfer, M. J., Key, T. J. & Ma, J., 2010, In : Human Molecular Genetics. 19, 15, p. 3089-3101

    Research output: Contribution to journalArticle

  4. Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

    Segal-Salto, M., Hansson, K., Sapir, T., Kaplan, A., Levy, T., Schweizer, M., Frotscher, M., Peter James & Reiner, O., 2017 May 1, In : Human Molecular Genetics. 26, 9, p. 1678-1693 16 p., ddx074.

    Research output: Contribution to journalArticle

  5. Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.

    Sharoyko, V., Abels, M., Jiangming Sun, Nicholas, L., Mollet, I., Stamenkovic, J., Göhring, I., Malmgren, S., Storm, P., Fadista, J., Peter Spégel, Metodiev, M. D., Larsson, N-G., Lena Eliasson, Nils Wierup & Hindrik Mulder, 2014, In : Human Molecular Genetics. 23, 21, p. 5733-5749

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  6. Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

    Sigurdsson, S., Goering, H. H. H., Kristjansdottir, G., Milani, L., Nordmark, G., Sandling, J. K., Eloranta, M-L., Feng, D., Sangster-Guity, N., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Andreas Jönsen, Lennart Truedsson, Barnes, B. J., Alm, G., Roennblom, L. & Syvaenen, A-C., 2008, In : Human Molecular Genetics. 17, 6, p. 872-881

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  7. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

    Sigurdsson, S., Nordmark, G., Garnier, S., Grundberg, E., Kwan, T., Nilsson, O., Eloranta, M-L., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Bengtsson, A. A., Jonsen, A., Lennart Truedsson, Rantapaa-Dahlqvist, S., Eriksson, C., Alm, G., Goring, H. H. H., Pastinen, T., Syvanen, A-C. & Ronnblom, L., 2008, In : Human Molecular Genetics. 17, 18, p. 2868-2876

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  8. Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.

    Ruben Smith, Karl Bacos, Fedele, V., Soulet, D., Jones, H., Obermüller, S., Lindqvist, A., Maria Björkqvist, Klein, P., Patrik Önnerfjord, Brundin, P., Hindrik Mulder & Jia-Yi Li, 2009, In : Human Molecular Genetics. 18, 20, p. 3942-3954

    Research output: Contribution to journalArticle

  9. Cholinergic neuronal defect without cell loss in Huntington's disease.

    Ruben Smith, Chung, H., Rundquist, S., Maat-Schieman, M. L. C., Colgan, L., Elisabet Englund, Liu, Y-J., Roos, R. A. C., Faull, R. L. M., Brundin, P. & Jia-Yi Li, 2006, In : Human Molecular Genetics. 15, 21, p. 3119-3131

    Research output: Contribution to journalArticle

  10. The mutational spectrum of human malignant autosomal recessive osteopetrosis

    Sobacchi, C., Frattini, A., Orchard, P., Porras, O., Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I., Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I., Etzioni, A., Fasth, A., Fisher, A., Gerritsen, B., Gulino, V., Horwitz, E., Klamroth, V., Lanino, E. & 13 othersMirolo, M., Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, LD., Ochs, HD., Furga, AS., Valiaho, J., van Hove, JLK., Mauno Vihinen, Vujic, D., Vezzoni, P. & Villa, A., 2001, In : Human Molecular Genetics. 10, 17, p. 1767-1773

    Research output: Contribution to journalArticle

  11. MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

    Storlazzi, CT., Fioretos, T., Surace, C., Lonoce, A., Mastrorilli, A., Strömbeck, B., D'Addabbo, P., Iacovelli, F., Minervini, C., Aventin, A., Dastugue, N., Fonatsch, C., Hagemeijer, A., Jotterand, M., Muhlematter, D., Lafage-Pochitaloff, M., Nguyen-Khac, F., Schoch, C., Slovak, ML., Smith, A. & 4 othersSole, F., Van Roy, N., Bertil Johansson & Rocchi, M., 2006, In : Human Molecular Genetics. 15, 6, p. 933-942

    Research output: Contribution to journalArticle

  12. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma

    Storlazzi, T., Fredrik Mertens, Nascimento, A., Isaksson, M., Wejde, J., Brosjo, O., Nils Mandahl & Panagopoulos, I., 2003 Sep 15, In : Human Molecular Genetics. 12, 18, p. 2349-2358 10 p.

    Research output: Contribution to journalArticle

  13. X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

    Sudbrak, R., Wieczorek, G., Nuber, U., Mann, W., Kirchner, R., Erdogan, F., Brown, C. J., Wohrle, D., Sterk, P., Kalscheuer, V. M., Berger, W., Lehrach, H. & Ropers, H-H., 2001, In : Human Molecular Genetics. 10, 1, p. 77-83

    Research output: Contribution to journalArticle

  14. Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.

    Taneera, J., Fadista, J., Emma Ahlqvist, Grubich Atac, D., Ottosson Laakso, E., Claes Wollheim & Leif Groop, 2015, In : Human Molecular Genetics. 24, 7, p. 1945-1955

    Research output: Contribution to journalArticle

  15. Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs

    Toenjes, A., Koriath, M., Schleinitz, D., Dietrich, K., Boettcher, Y., Rayner, N. W., Almgren, P., Enigk, B., Richter, O., Rohm, S., Fischer-Rosinsky, A., Pfeiffer, A., Hoffmann, K., Krohn, K., Aust, G., Spranger, J., Leif Groop, Blueher, M., Kovacs, P. & Stumvoll, M., 2009, In : Human Molecular Genetics. 18, 23, p. 4662-4668

    Research output: Contribution to journalArticle

  16. Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin

    Tönjes, A., Scholz, M., Krüger, J., Krause, K., Schleinitz, D., Kirsten, H., Gebhardt, C., Marzi, C., Grallert, H., Ladenvall, C., Heyne, H., Laurila, E., Kriebel, J., Meisinger, C., Rathmann, W., Gieger, C., Groop, L., Prokopenko, I., Isomaa, B., Beutner, F. & 9 othersKratzsch, J., Fischer-Rosinsky, A., Pfeiffer, A., Krohn, K., Spranger, J., Thiery, J., Blüher, M., Stumvoll, M. & Kovacs, P., 2018 Feb 1, In : Human Molecular Genetics. 27, 3, p. 546-558

    Research output: Contribution to journalArticle

  17. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

    J Vallon-Christersson, Cayanan, C., Haraldsson, K., N Loman, Bergthorsson, J. T., Brøndum-Nielsen, K., Gerdes, A. M., Møller, P., U Kristoffersson, Håkan Olsson, Åke Borg & Monteiro, A. N., 2001 Feb 15, In : Human Molecular Genetics. 10, 4, p. 353-60 8 p.

    Research output: Contribution to journalArticle

  18. Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.

    Vemula, S. R., Andreas Puschmann, Xiao, J., Rudzinska, M., Frei, K. P., Truong, D. D., Wszolek, Z. K. & LeDoux, M. S., 2013, In : Human Molecular Genetics. 22, 12, p. 2510-2519

    Research output: Contribution to journalArticle

  19. Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis

    Venugopalan, S. R., Amen, M. A., Wang, J., Wong, L., Cavender, A. C., D'Souza, R. N., Mikael Åkerlund, Brody, S. L., Hjalt, T. & Amendt, B. A., 2008, In : Human Molecular Genetics. 17, 23, p. 3643-3654

    Research output: Contribution to journalArticle

  20. Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

    Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Stefan Karlsson & Futerman, A. H., 2010, In : Human Molecular Genetics. 19, 18, p. 3583-3590

    Research output: Contribution to journalArticle

  21. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration

    Vlachantoni, D., Bramall, A. N., Murphy, M. P., Taylor, R. W., Shu, X., Tulloch, B., van Veen, T., Turnbull, D. M., McInnes, R. R. & Wright, A. F., 2011, In : Human Molecular Genetics. 20, 2, p. 322-335

    Research output: Contribution to journalArticle

  22. A genome wide scan for early onset primary hypertension in Scandinavians.

    von Wowern, F., Kristina Bengtsson Boström, Lindgren, C., Marju Orho-Melander, Fyhrquist, F., Lindblad, U., Lennart Råstam, Forsblom, C., Kanninen, T., Almgren, P., Burri, P., Katzman, P., Leif Groop, Hulthén, U. L. & Olle Melander, 2003, In : Human Molecular Genetics. 12, 16, p. 2077-2081

    Research output: Contribution to journalArticle

  23. DNA-BASED MUTATION ANALYSIS OF BRUTONS TYROSINE KINASE GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

    VORECHOVSKY, I., Mauno Vihinen, DESAINTBASILE, G., HONSOVA, S., HAMMARSTROM, L., MULLER, S., NILSSON, L., FISCHER, A. & SMITH, CIE., 1995, In : Human Molecular Genetics. 4, 1, p. 51-58

    Research output: Contribution to journalArticle

  24. Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.

    Wiesner, D., Sinniger, J., Henriques, A., Dieterlé, S., Müller, H-P., Rasche, V., Ferger, B., Dirrig-Grosch, S., Rana Soylu, Åsa Petersén, Walther, P., Linkus, B., Kassubek, J., Wong, P. C., Ludolph, A. C. & Dupuis, L., 2015, In : Human Molecular Genetics. 24, 8, p. 2228-2240

    Research output: Contribution to journalArticle