Volume 17; Issue 22

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Human Molecular Genetics
Volume 17; Issue 22

Human Molecular Genetics

Volume 17; Issue 22

1

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, G., Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.60 MB

english, 2008

2

Association of the tumour necrosis factor-308 variant with differential response to anti-TNF agents in the treatment of rheumatoid arthritis

Maxwell, J. R., Potter, C., Hyrich, K. L., Barton, A., Worthington, J., Isaacs, J. D., Morgan, A. W., Wilson, A. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

3

Editorial Board

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 26 KB

english, 2008

4

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in -mannosidosis mice

Blanz, J., Stroobants, S., Lullmann-Rauch, R., Morelle, W., Ludemann, M., D'Hooge, R., Reuterwall, H., Michalski, J. C., Fogh, J., Andersson, C., Saftig, P.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 805 KB

english, 2008

5

Scrib regulates PAK activity during the cell migration process

Nola, S., Sebbagh, M., Marchetto, S., Osmani, N., Nourry, C., Audebert, S., Navarro, C., Rachel, R., Montcouquiol, M., Sans, N., Etienne-Manneville, S., Borg, J.-P., Santoni, M.-J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 2.46 MB

english, 2008

6

Expression of p21waf1/Cip1 in stromal fibroblasts of primary breast tumors

Trimis, G., Chatzistamou, I., Politi, K., Kiaris, H., Papavassiliou, A. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 2.38 MB

english, 2008

7

Subscription Page

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 31 KB

english, 2008

8

Protective role of Engrailed in a Drosophila model of Huntington's disease

Mugat, B., Parmentier, M.-L., Bonneaud, N., Chan, H. Y. E., Maschat, F.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.59 MB

english, 2008

9

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

Chevessier, F., Girard, E., Molgo, J., Bartling, S., Koenig, J., Hantai, D., Witzemann, V.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.74 MB

english, 2008

10

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

Fantauzzo, K. A., Tadin-Strapps, M., You, Y., Mentzer, S. E., Baumeister, F. A.M., Cianfarani, S., Van Maldergem, L., Warburton, D., Sundberg, J. P., Christiano, A. M.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.04 MB

english, 2008

11

Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain

Hatayama, M., Tomizawa, T., Sakai-Kato, K., Bouvagnet, P., Kose, S., Imamoto, N., Yokoyama, S., Utsunomiya-Tate, N., Mikoshiba, K., Kigawa, T., Aruga, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.42 MB

english, 2008

12

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer

Simoes-Correia, J., Figueiredo, J., Oliveira, C., van Hengel, J., Seruca, R., van Roy, F., Suriano, G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 963 KB

english, 2008

13

Contents Page

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 31 KB

english, 2008

14

The in vivo mitochondrial two-step maturation of human frataxin

Schmucker, S., Argentini, M., Carelle-Calmels, N., Martelli, A., Puccio, H.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 543 KB

english, 2008

15

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

Chanda, B., Asai-Coakwell, M., Ye, M., Mungall, A. J., Barrow, M., Dobyns, W. B., Behesti, H., Sowden, J. C., Carter, N. P., Walter, M. A., Lehmann, O. J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.19 MB

english, 2008

16

Amyloid precursor protein-induced axonopathies are independent of amyloid- peptides

Stokin, G. B., Almenar-Queralt, A., Gunawardena, S., Rodrigues, E. M., Falzone, T., Kim, J., Lillo, C., Mount, S. L., Roberts, E. A., McGowan, E., Williams, D. S., Goldstein, L. S.B.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 919 KB

english, 2008

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