Volume 19; Issue 11

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Human Molecular Genetics
Volume 19; Issue 11

Human Molecular Genetics

Volume 19; Issue 11

1

Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease

Rose, C., Menzies, F. M., Renna, M., Acevedo-Arozena, A., Corrochano, S., Sadiq, O., Brown, S. D., Rubinsztein, D. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

2

Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus

Myouzen, K., Kochi, Y., Shimane, K., Fujio, K., Okamura, T., Okada, Y., Suzuki, A., Atsumi, T., Ito, S., Takada, K., Mimori, A., Ikegawa, S., Yamada, R., Nakamura, Y., Yamamoto, K.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

3

Functional muscle analysis of the Tcap knockout mouse

Markert, C. D., Meaney, M. P., Voelker, K. A., Grange, R. W., Dalley, H. W., Cann, J. K., Ahmed, M., Bishwokarma, B., Walker, S. J., Yu, S. X., Brown, M., Lawlor, M. W., Beggs, A. H., Childers, M. K.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 628 KB

english, 2010

4

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

Trollet, C., Anvar, S. Y., Venema, A., Hargreaves, I. P., Foster, K., Vignaud, A., Ferry, A., Negroni, E., Hourde, C., Baraibar, M. A., 't Hoen, P. A. C., Davies, J. E., Rubinsztein, D. C., Heales, S.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 606 KB

english, 2010

5

Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction

Yamanaka, T., Tosaki, A., Miyazaki, H., Kurosawa, M., Furukawa, Y., Yamada, M., Nukina, N.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 659 KB

english, 2010

6

Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models

Lattanzi, A., Neri, M., Maderna, C., di Girolamo, I., Martino, S., Orlacchio, A., Amendola, M., Naldini, L., Gritti, A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 996 KB

english, 2010

7

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

Okada, Y., Kamatani, Y., Takahashi, A., Matsuda, K., Hosono, N., Ohmiya, H., Daigo, Y., Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 310 KB

english, 2010

8

Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice

Wong, M., Martin, L. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 1.12 MB

english, 2010

9

The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis

Yates, L. L., Schnatwinkel, C., Murdoch, J. N., Bogani, D., Formstone, C. J., Townsend, S., Greenfield, A., Niswander, L. A., Dean, C. H.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 1.06 MB

english, 2010

10

OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation

Ban, T., Heymann, J. A. W., Song, Z., Hinshaw, J. E., Chan, D. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 680 KB

english, 2010

11

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing

Mende, Y., Jakubik, M., Riessland, M., Schoenen, F., Rossbach, K., Kleinridders, A., Kohler, C., Buch, T., Wirth, B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 562 KB

english, 2010

12

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development

Alvarez-Saavedra, M., Carrasco, L., Sura-Trueba, S., Demarchi Aiello, V., Walz, K., Neto, J. X., Young, J. I.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 545 KB

english, 2010

13

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 384 KB

2010

14

Synphilin-1 attenuates neuronal degeneration in the A53T -synuclein transgenic mouse model

Smith, W. W., Liu, Z., Liang, Y., Masuda, N., Swing, D. A., Jenkins, N. A., Copeland, N. G., Troncoso, J. C., Pletnikov, M., Dawson, T. M., Martin, L. J., Moran, T. H., Lee, M. K., Borchelt, D. R., Ro

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 677 KB

english, 2010

15

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 32 KB

english, 2010

16

Contents Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

17

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Urwin, H., Authier, A., Nielsen, J. E., Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M. C., van der Zee, J., Bruyland, M., Van Broeckhoven, C., Co

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 11.75 MB

english, 2010

18

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Ali, B. R., Xu, H., Akawi, N. A., John, A., Karuvantevida, N. S., Langer, R., Al-Gazali, L., Leitinger, B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 549 KB

english, 2010

19

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis

Gandhi, K. S., McKay, F. C., Cox, M., Riveros, C., Armstrong, N., Heard, R. N., Vucic, S., Williams, D. W., Stankovich, J., Brown, M., Danoy, P., Stewart, G. J., Broadley, S., Moscato, P., Lechner-Sco

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 424 KB

english, 2010

20

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

Stumpf, J. D., Bailey, C. M., Spell, D., Stillwagon, M., Anderson, K. S., Copeland, W. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 291 KB

english, 2010

21

Variation in the uric acid transporter gene (SLC2A9) and memory performance

Houlihan, L. M., Wyatt, N. D., Harris, S. E., Hayward, C., Gow, A. J., Marioni, R. E., Strachan, M. W. J., Price, J. F., Starr, J. M., Wright, A. F., Deary, I. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

22

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis

Bronson, P. G., Caillier, S., Ramsay, P. P., McCauley, J. L., Zuvich, R. L., De Jager, P. L., Rioux, J. D., Ivinson, A. J., Compston, A., Hafler, D. A., Sawcer, S. J., Pericak-Vance, M. A., Haines, J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 212 KB

english, 2010

23

Epigenetic maturation in colonic mucosa continues beyond infancy in mice

Kellermayer, R., Balasa, A., Zhang, W., Lee, S., Mirza, S., Chakravarty, A., Szigeti, R., Laritsky, E., Tatevian, N., Smith, C. W., Shen, L., Waterland, R. A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 855 KB

english, 2010