Volume 22; Issue 20

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Human Molecular Genetics
Volume 22; Issue 20

Human Molecular Genetics

Volume 22; Issue 20

1

Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls

Nickles, D., Chen, H. P., Li, M. M., Khankhanian, P., Madireddy, L., Caillier, S. J., Santaniello, A., Cree, B. A. C., Pelletier, D., Hauser, S. L., Oksenberg, J. R., Baranzini, S. E.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 921 KB

english, 2013

2

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

Cardenas-Rodriguez, M., Irigoin, F., Osborn, D. P. S., Gascue, C., Katsanis, N., Beales, P. L., Badano, J. L.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2013

3

Coronary heart disease is associated with a mutation in mitochondrial tRNA

Jia, Z., Wang, X., Qin, Y., Xue, L., Jiang, P., Meng, Y., Shi, S., Wang, Y., Qin Mo, J., Guan, M.-X.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 551 KB

english, 2013

4

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice

Koval, E. D., Shaner, C., Zhang, P., du Maine, X., Fischer, K., Tay, J., Chau, B. N., Wu, G. F., Miller, T. M.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 981 KB

english, 2013

5

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse

Stottmann, R. W., Donlin, M., Hafner, A., Bernard, A., Sinclair, D. A., Beier, D. R.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2013

6

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

Kote-Jarai, Z., Saunders, E. J., Leongamornlert, D. A., Tymrakiewicz, M., Dadaev, T., Jugurnauth-Little, S., Ross-Adams, H., Al Olama, A. A., Benlloch, S., Halim, S., Russell, R., Dunning, A. M., Lucc

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 22 KB

english, 2013

7

The DcpS inhibitor RG3039 improves motor function in SMA mice

Van Meerbeke, J. P., Gibbs, R. M., Plasterer, H. L., Miao, W., Feng, Z., Lin, M.-Y., Rucki, A. A., Wee, C. D., Xia, B., Sharma, S., Jacques, V., Li, D. K., Pellizzoni, L., Rusche, J. R., Ko, C.-P., Su

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 4.91 MB

english, 2013

8

Editorial Board

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 22 KB

english, 2013

9

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10

Klein, F. A. C., Zeder-Lutz, G., Cousido-Siah, A., Mitschler, A., Katz, A., Eberling, P., Mandel, J.-L., Podjarny, A., Trottier, Y.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2013

10

A genome-wide association study identified new variants associated with the risk of chronic hepatitis B

Kim, Y. J., Kim, H. Y., Lee, J.-H., Yu, S. J., Yoon, J.-H., Lee, H.-S., Kim, C. Y., Cheong, J. Y., Cho, S. W., Park, N. H., Park, B. L., Namgoong, S., Kim, L. H., Cheong, H. S., Shin, H. D.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 248 KB

english, 2013

11

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

Shinde, D. N., Elmer, D. P., Calabrese, P., Boulanger, J., Arnheim, N., Tiemann-Boege, I.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 589 KB

english, 2013

12

Contents Page

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 33 KB

english, 2013

13

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

Ishihara, T., Ariizumi, Y., Shiga, A., Kato, T., Tan, C.-F., Sato, T., Miki, Y., Yokoo, M., Fujino, T., Koyama, A., Yokoseki, A., Nishizawa, M., Kakita, A., Takahashi, H., Onodera, O.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2013

14

Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis

Apolloni, S., Amadio, S., Montilli, C., Volonte, C., D'Ambrosi, N.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 2.42 MB

english, 2013

15

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein -COP and neurite outgrowth in a cell culture model of spinal muscular atrophy

Custer, S. K., Todd, A. G., Singh, N. N., Androphy, E. J.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 997 KB

english, 2013

16

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF

Nolen, L. D., Boyle, S., Ansari, M., Pritchard, E., Bickmore, W. A.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2013

17

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Azzedine, H., Zavadakova, P., Plante-Bordeneuve, V., Vaz Pato, M., Pinto, N., Bartesaghi, L., Zenker, J., Poirot, O., Bernard-Marissal, N., Arnaud Gouttenoire, E., Cartoni, R., Title, A., Venturini, G

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2013

18

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

Gogliotti, R. G., Cardona, H., Singh, J., Bail, S., Emery, C., Kuntz, N., Jorgensen, M., Durens, M., Xia, B., Barlow, C., Heier, C. R., Plasterer, H. L., Jacques, V., Kiledjian, M., Jarecki, J., Rusch

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2013

19

Cover Page

Journal:

Human Molecular Genetics

Année:

2013

Fichier:

PDF, 414 KB

2013

20

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice

Kemter, E., Prueckl, P., Sklenak, S., Rathkolb, B., Habermann, F. A., Hans, W., Gailus-Durner, V., Fuchs, H., Hrabe de Angelis, M., Wolf, E., Aigner, B., Wanke, R.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2013

21

Subscription Page

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 34 KB

english, 2013

22

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Broucqsault, N., Morere, J., Gaillard, M.-C., Dumonceaux, J., Torrents, J., Salort-Campana, E., Maues De Paula, A., Bartoli, M., Fernandez, C., Chesnais, A. L., Ferreboeuf, M., Sarda, L., Dufour, H.,

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 421 KB

english, 2013