Volume 19; Issue 12

Main
Human Molecular Genetics
Volume 19; Issue 12

Human Molecular Genetics

Volume 19; Issue 12

1

Transcriptome analysis and molecular signature of human retinal pigment epithelium

Strunnikova, N. V., Maminishkis, A., Barb, J. J., Wang, F., Zhi, C., Sergeev, Y., Chen, W., Edwards, A. O., Stambolian, D., Abecasis, G., Swaroop, A., Munson, P. J., Miller, S. S.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 671 KB

english, 2010

2

Fine scale mapping of the breast cancer 16q12 locus

Udler, M. S., Ahmed, S., Healey, C. S., Meyer, K., Struewing, J., Maranian, M., Kwon, E. M., Zhang, J., Tyrer, J., Karlins, E., Platte, R., Kalmyrzaev, B., Dicks, E., Field, H., Maia, A.-T., Prathalin

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 239 KB

english, 2010

3

The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl

Takahashi, M., Saenko, V. A., Rogounovitch, T. I., Kawaguchi, T., Drozd, V. M., Takigawa-Imamura, H., Akulevich, N. M., Ratanajaraya, C., Mitsutake, N., Takamura, N., Danilova, L. I., Lushchik, M. L.,

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 200 KB

english, 2010

4

Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3?

Alves, S., Nascimento-Ferreira, I., Dufour, N., Hassig, R., Auregan, G., Nobrega, C., Brouillet, E., Hantraye, P., Pedroso de Lima, M. C., Deglon, N., de Almeida, L. P.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 810 KB

english, 2010

5

Contents Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

6

The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

Brooks, S. P., Coccia, M., Tang, H. R., Kanuga, N., Machesky, L. M., Bailly, M., Cheetham, M. E., Hardcastle, A. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 586 KB

english, 2010

7

Zebrafish models of collagen VI-related myopathies

Telfer, W. R., Busta, A. S., Bonnemann, C. G., Feldman, E. L., Dowling, J. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 593 KB

english, 2010

8

Inhibiting the ubiquitin-proteasome system leads to preferential accumulation of toxic N-terminal mutant huntingtin fragments

Li, X., Wang, C.-E., Huang, S., Xu, X., Li, X.-J., Li, H., Li, S.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 543 KB

english, 2010

9

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction

Maselli, R. A., Arredondo, J., Cagney, O., Ng, J. J., Anderson, J. A., Williams, C., Gerke, B. J., Soliven, B., Wollmann, R. L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 278 KB

english, 2010

10

A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis

Neumann-Haefelin, E., Kramer-Zucker, A., Slanchev, K., Hartleben, B., Noutsou, F., Martin, K., Wanner, N., Ritter, A., Godel, M., Pagel, P., Fu, X., Muller, A., Baumeister, R., Walz, G., Huber, T. B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 552 KB

english, 2010

11

Parkinson disease protein DJ-1 converts from a zymogen to a protease by carboxyl-terminal cleavage

Chen, J., Li, L., Chin, L.-S.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 721 KB

english, 2010

12

A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule

VanGompel, M. J. W., Xu, E. Y.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 591 KB

english, 2010

13

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium

Qu, H.-Q., Bradfield, J. P., Li, Q., Kim, C., Frackelton, E., Grant, S. F. A., Hakonarson, H., Polychronakos, C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 128 KB

english, 2010

14

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 32 KB

english, 2010

15

A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts

Kalsi, G., Kuo, P.-H., Aliev, F., Alexander, J., McMichael, O., Patterson, D. G., Walsh, D., Zhao, Z., Schuckit, M., Nurnberger, J., Edenberg, H., Kramer, J., Vladimirov, V., Prescott, C. A., Dick, D.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

16

ELF5-enforced transcriptional networks define an epigenetically regulated trophoblast stem cell compartment in the human placenta

Hemberger, M., Udayashankar, R., Tesar, P., Moore, H., Burton, G. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 674 KB

english, 2010

17

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 1.03 MB

2010

18

Positive selection drives population differentiation in the skeletal genes in modern humans

Wu, D.-D., Zhang, Y.-P.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 183 KB

english, 2010