Volume 19; Issue 18

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Human Molecular Genetics
Volume 19; Issue 18

Human Molecular Genetics

Volume 19; Issue 18

1

The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta

Noguer-Dance, M., Abu-Amero, S., Al-Khtib, M., Lefevre, A., Coullin, P., Moore, G. E., Cavaille, J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 937 KB

english, 2010

2

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 648 KB

2010

3

Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X

Groh, J., Heinl, K., Kohl, B., Wessig, C., Greeske, J., Fischer, S., Martini, R.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 731 KB

english, 2010

4

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

Murga-Zamalloa, C. A., Atkins, S. J., Peranen, J., Swaroop, A., Khanna, H.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 333 KB

english, 2010

5

Common body mass index-associated variants confer risk of extreme obesity

Cotsapas, C., Speliotes, E. K., Hatoum, I. J., Greenawalt, D. M., Dobrin, R., Lum, P. Y., Suver, C., Chudin, E., Kemp, D., Reitman, M., Voight, B. F., Neale, B. M., Schadt, E. E., Hirschhorn, J. N., K

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 32 KB

english, 2010

6

Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans

Hansen, H. M., Xiao, Y., Rice, T., Bracci, P. M., Wrensch, M. R., Sison, J. D., Chang, J. S., Smirnov, I. V., Patoka, J., Seldin, M. F., Quesenberry, C. P., Kelsey, K. T., Wiencke, J. K.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 217 KB

english, 2010

7

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

8

Editorial Board

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 27 KB

english, 2010

9

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

Zentner, G. E., Hurd, E. A., Schnetz, M. P., Handoko, L., Wang, C., Wang, Z., Wei, C., Tesar, P. J., Hatzoglou, M., Martin, D. M., Scacheri, P. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 407 KB

english, 2010

10

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Karlsson, S., Futerman, A. H.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 412 KB

english, 2010

11

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

Chen, P., Burdette, A. J., Porter, J. C., Ricketts, J. C., Fox, S. A., Nery, F. C., Hewett, J. W., Berkowitz, L. A., Breakefield, X. O., Caldwell, K. A., Caldwell, G. A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 484 KB

english, 2010

12

Parent-of-origin effects at the major histocompatibility complex in multiple sclerosis

Chao, M. J., Herrera, B. M., Ramagopalan, S. V., Deluca, G., Handunetthi, L., Orton, S. M., Lincoln, M. R., Sadovnick, A. D., Ebers, G. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

13

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation

Szczepanowska, K., Foury, F.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 678 KB

english, 2010

14

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

Ward, A. J., Rimer, M., Killian, J. M., Dowling, J. J., Cooper, T. A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 450 KB

english, 2010

15

Contents Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

16

Genome-wide association of serum bilirubin levels in Korean population

Kang, T.-W., Kim, H.-J., Ju, H., Kim, J.-H., Jeon, Y.-J., Lee, H.-C., Kim, K.-K., Kim, J.-W., Lee, S., Kim, J. Y., Kim, S.-Y., Kim, Y. S.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 260 KB

english, 2010

17

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

Tian, G., Jaglin, X. H., Keays, D. A., Francis, F., Chelly, J., Cowan, N. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 536 KB

english, 2010

18

-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

Clarkson, Y. L., Gillespie, T., Perkins, E. M., Lyndon, A. R., Jackson, M.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 390 KB

english, 2010

19

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

Bahloul, A., Michel, V., Hardelin, J.-P., Nouaille, S., Hoos, S., Houdusse, A., England, P., Petit, C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 417 KB

english, 2010

20

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Lubbehusen, J., Thiel, C., Rind, N., Ungar, D., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M., Korner, C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010