Human Molecular Genetics, 0964-6906

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  1. 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, I : Human Molecular Genetics. 14, 1, s. 39-47

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  2. Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

    Sebastian Braun, Kottwitz, D. & Nuber, U., 2012, I : Human Molecular Genetics. 21, 8, s. 1673-1680

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  3. 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, I : Human Molecular Genetics. 20, 13, s. 2686-2695 10 s., ddr162.

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  4. Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease

    Maria Björkqvist, Åsa Petersén, Karl Bacos, Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, GP., Tabrizi, SJ., Brundin, P. & Hindrik Mulder, 2006, I : Human Molecular Genetics. 15, 10, s. 1713-1721

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  5. Proteasome Inhibition Improves the Muscle of Laminin {alpha}2 Chain Deficient Mice.

    Carmignac, V., Quere, R. & Madeleine Durbeej-Hjalt, 2011, I : Human Molecular Genetics. 20, 3, s. 541-552

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  6. 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 maj 1, I : Human Molecular Genetics. 26, 9, s. 1678-1693 16 s., ddx074.

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  7. 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, I : Human Molecular Genetics. 16, 17, s. 2072-2088

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  8. Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

    Acevedo, N., Reinius, L. E., Greco, D., Gref, A., Christina Orsmark-Pietras, Helena Persson, Pershagen, G., Hedlin, G., Melén, E., Scheynius, A., Kere, J. & Söderhäll, C., 2015 feb 1, I : Human Molecular Genetics. 24, 3, s. 875-90 16 s.

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  9. 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, I : Human Molecular Genetics. 22, 12, s. 2510-2519

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  10. 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, I : Human Molecular Genetics. 22, 9, s. 1771-1782

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  11. 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, I : Human Molecular Genetics. 24, 7, s. 2011-2022 ddu615.

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  12. Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system

    Xilouri, M., Kyratzi, E., Pitychoutis, P. M., Papadopoulou-Daifoti, Z., Perier, C., Vila, M., Maniati, M., Ulusoy, A., Deniz Kirik, Park, D. S., Wada, K. & Stefanis, L., 2012, I : Human Molecular Genetics. 21, 4, s. 874-889

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  13. Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males

    Bode, F. J., Stephan, M., Suhling, H., Pabst, R., Straub, R. H., Raber, K. A., Bonin, M., Nguyen, H. P., Riess, O., Bauer, A., Sjöberg, C., Åsa Petersén & von Hoersten, S., 2008, I : Human Molecular Genetics. 17, 17, s. 2595-2609

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  14. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

    Cristiano Fava, Montagnana, M., Nilsson, L., Burri, P., Almgren, P., Jonsson, A., Wanby, P., Lippi, G., Minuz, P., Hulthén, L., Aurell, M. & Olle Melander, 2008, I : Human Molecular Genetics. 17, 3, s. 413-418

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  15. Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.

    Zhou, Y., Enming Zhang, Berggreen, C., Jing, X., Osmark, P., Stefan Lang, Corrado Cilio, Olga Göransson, Leif Groop, Erik Renström & Ola Hansson, 2012, I : Human Molecular Genetics. 21, s. 196-207

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  16. TCF7L2 is a master regulator of insulin production and processing.

    Zhou, Y., Park, S-Y., Su, J., Bailey, K., Ottosson Laakso, E., Liliya Shcherbina, Nikolay Oskolkov, Enming Zhang, Thevenin, T., Fadista, J., Bennet, H., Petter Vikman, Nils Wierup, Malin Fex, Rung, J., Claes Wollheim, Nobrega, M., Erik Renström, Leif Groop & Ola Hansson, 2014, I : Human Molecular Genetics. 23, 24, s. 6419-6431

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  17. 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, I : Human Molecular Genetics. 19, 16, s. 3150-3158

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  18. The DNA methylome of pediatric acute lymphoblastic leukemia.

    Josef Davidsson, Henrik Lilljebjörn, Anna Andersson, Srinivas Veerla, Heldrup, J., Behrendtz, M., Thoas Fioretos & Bertil Johansson, 2009, I : Human Molecular Genetics. Aug 13, s. 4054-4065

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  19. 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, I : Human Molecular Genetics. 19, s. 1507-1514

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  20. 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 andraMirolo, 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, I : Human Molecular Genetics. 10, 17, s. 1767-1773

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  21. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

    Beer, N. L., Tribble, N. D., McCulloch, L. J., Roos, C., Johnson, P. R. V., Marju Orho-Melander & Gloyn, A. L., 2009, I : Human Molecular Genetics. 18, 21, s. 4081-4088

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient {beta}-cell mass and exocytosis.

    Maria Björkqvist, Malin Fex, Erik Renström, Nils Wierup, Åsa Petersén, Gil, J., Karl Bacos, Popovic, N., Jia-Yi Li, Sundler, F., Brundin, P. & Hindrik Mulder, 2005, I : Human Molecular Genetics. 14, 5, s. 565-574

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 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 andraScorza, R., van Laar, J., Gonzalez-Escribano, M. F., Nelson, J. L., Radstake, T. R. D. J. & Martin, J., 2009, I : Human Molecular Genetics. 18, 11, s. 2071-2077

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  24. The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

    Choquet, H., Cavalcanti-Proenca, C., Lecoeur, C., Dina, C., Cauchi, S., Vaxillaire, M., Hadjadj, S., Horber, F., Potoczna, N., Charpentier, G., Ruiz, J., Hercberg, S., Maimaitiming, S., Roussel, R., Boenhnke, M., Jackson, A. U., Patsch, W., Krempler, F., Voight, B. F., Altshuler, D. & 7 andraLeif Groop, Thorleifsson, G., Steinthorsdottir, V., Stefansson, K., Balkau, B., Froguel, P. & Meyre, D., 2009, I : Human Molecular Genetics. 18, 13, s. 2495-2501

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