Volume 17; Issue 15

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Human Molecular Genetics
Volume 17; Issue 15

Human Molecular Genetics

Volume 17; Issue 15

1

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Roman, A. J., Gardner, L. M., Prosser, H. M., Mishra, M., Bech-Hansen, N. T., Herrera, W., Schwartz, S. B., Liu, X.-Z., Kimberling, W. J

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.12 MB

english, 2008

2

Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility

Barton, A., Thomson, W., Ke, X., Eyre, S., Hinks, A., Bowes, J., Gibbons, L., Plant, D., Wilson, A. G., Marinou, I., Morgan, A., Emery, P., Steer, S., Hocking, L., Reid, D. M., Wordsworth, P., Harriso

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 82 KB

english, 2008

3

Nf1+/- mice have increased neointima formation via hyperactivation of a Gleevec sensitive molecular pathway

Lasater, E. A., Bessler, W. K., Mead, L. E., Horn, W. E., Clapp, D. W., Conway, S. J., Ingram, D. A., Li, F.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.79 MB

english, 2008

4

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

Zhou, X., Solaroli, N., Bjerke, M., Stewart, J. B., Rozell, B., Johansson, M., Karlsson, A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.90 MB

english, 2008

5

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease

Wu, Y.-P., Mizugishi, K., Bektas, M., Sandhoff, R., Proia, R. L.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.93 MB

english, 2008

6

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

Warby, S. C., Doty, C. N., Graham, R. K., Carroll, J. B., Yang, Y.-Z., Singaraja, R. R., Overall, C. M., Hayden, M. R.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.36 MB

english, 2008

7

Evidence that the gene encoding insulin degrading enzyme influences human lifespan

Hong, M.-G., Reynolds, C., Gatz, M., Johansson, B., Palmer, J. C., Gu, H. F., Blennow, K., Kehoe, P. G., de Faire, U., Pedersen, N. L., Prince, J. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 380 KB

english, 2008

8

Novel variants in human Aquaporin-4 reduce cellular water permeability

Sorani, M. D., Zador, Z., Hurowitz, E., Yan, D., Giacomini, K. M., Manley, G. T.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 877 KB

english, 2008

9

Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin

Wang, Y., Panteleyev, A. A., Owens, D. M., Djabali, K., Stewart, C. L., Worman, H. J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.68 MB

english, 2008

10

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

Li, K., Besse, E. K., Ha, D., Kovtunovych, G., Rouault, T. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 677 KB

english, 2008

11

Major basic protein-1 promotes fibrosis of dystrophic muscle and attenuates the cellular immune response in muscular dystrophy

Wehling-Henricks, M., Sokolow, S., Lee, J. J., Myung, K. H., Villalta, S. A., Tidball, J. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.20 MB

english, 2008

12

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach

Han-Xiang, D., Hujun, J., Ronggen, F., Hong, Z., Yong, S., Erdong, L., Makito, H., Mauro, C. D. C., Teepu, S.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.39 MB

english, 2008

13

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia

Weickert, C. S., Miranda-Angulo, A. L., Wong, J., Perlman, W. R., Ward, S. E., Radhakrishna, V., Straub, R. E., Weinberger, D. R., Kleinman, J. E.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 823 KB

english, 2008

14

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

Sun, Y., Witte, D. P., Ran, H., Zamzow, M., Barnes, S., Cheng, H., Han, X., Williams, M. T., Skelton, M. R., Vorhees, C. V., Grabowski, G. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 2.08 MB

english, 2008

15

Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study

Assimes, T. L., Knowles, J. W., Basu, A., Iribarren, C., Southwick, A., Tang, H., Absher, D., Li, J., Fair, J. M., Rubin, G. D., Sidney, S., Fortmann, S. P., Go, A. S., Hlatky, M. A., Myers, R. M., Ri

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

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