Volume 18; Issue 3

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Human Molecular Genetics
Volume 18; Issue 3

Human Molecular Genetics

Volume 18; Issue 3

1

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Revenkova, E., Focarelli, M. L., Susani, L., Paulis, M., Bassi, M. T., Mannini, L., Frattini, A., Delia, D., Krantz, I., Vezzoni, P., Jessberger, R., Musio, A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 840 KB

english, 2008

2

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

Simpson, C. L., Lemmens, R., Miskiewicz, K., Broom, W. J., Hansen, V. K., van Vught, P. W.J., Landers, J. E., Sapp, P., Van Den Bosch, L., Knight, J., Neale, B. M., Turner, M. R., Veldink, J. H., Opho

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 518 KB

english, 2008

3

Cx36 makes channels coupling human pancreatic -cells, and correlates with insulin expression

Serre-Beinier, V., Bosco, D., Zulianello, L., Charollais, A., Caille, D., Charpantier, E., Gauthier, B. R., Diaferia, G. R., Giepmans, B. N., Lupi, R., Marchetti, P., Deng, S., Buhler, L., Berney, T.,

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 656 KB

english, 2008

4

Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain

Wood, J. D., Bonath, F., Kumar, S., Ross, C. A., Cunliffe, V. T.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.18 MB

english, 2008

5

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

Little, H. J., Rorick, N. K., Su, L.-I, Baldock, C., Malhotra, S., Jowitt, T., Gakhar, L., Subramanian, R., Schutte, B. C., Dixon, M. J., Shore, P.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 418 KB

english, 2008

6

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches

Lu, Y., Wang, F., Li, Y., Ferris, J., Lee, J.-A, Gao, F.-B.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.00 MB

english, 2008

7

A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus

Orru, V., Tsai, S. J., Rueda, B., Fiorillo, E., Stanford, S. M., Dasgupta, J., Hartiala, J., Zhao, L., Ortego-Centeno, N., D'Alfonso, S., Arnett, F. C., Wu, H., Gonzalez-Gay, M. A., Tsao, B. P., Pons-

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.15 MB

english, 2008

8

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Zeevaert, R., Foulquier, F., Dimitrov, B., Reynders, E., Van Damme-Lombaerts, R., Simeonov, E., Annaert, W., Matthijs, G., Jaeken, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 418 KB

english, 2008

9

Cover Page

Journal:

Human Molecular Genetics

Year:

2008

File:

PDF, 1.70 MB

2008

10

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Dimitrov, A., Paupe, V., Gueudry, C., Sibarita, J.-B., Raposo, G., Vielemeyer, O., Gilbert, T., Csaba, Z., Attie-Bitach, T., Cormier-Daire, V., Gressens, P., Rustin, P., Perez, F., El Ghouzzi, V.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.31 MB

english, 2008

11

Subscription Page

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 32 KB

english, 2008

12

Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy

Villalta, S. A., Nguyen, H. X., Deng, B., Gotoh, T., Tidball, J. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.12 MB

english, 2008

13

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

Ferland, R. J., Batiz, L. F., Neal, J., Lian, G., Bundock, E., Lu, J., Hsiao, Y.-C., Diamond, R., Mei, D., Banham, A. H., Brown, P. J., Vanderburg, C. R., Joseph, J., Hecht, J. L., Folkerth, R., Guerr

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 12.29 MB

english, 2008

14

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

Deng, H.-X., Jiang, H., Fu, R., Zhai, H., Shi, Y., Liu, E., Hirano, M., Dal Canto, M. C., Siddique, T.

Journal:

Human Molecular Genetics

Year:

2008

File:

PDF, 20 KB

2008

15

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

Bodian, D. L., Chan, T.-F., Poon, A., Schwarze, U., Yang, K., Byers, P. H., Kwok, P.-Y., Klein, T. E.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 108 KB

english, 2008

16

Sex-specific roles of -catenin in mouse gonadal development

Liu, C.-F., Bingham, N., Parker, K., Yao, H. H.-C.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 7.34 MB

english, 2008

17

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Meyer, K., Marquis, J., Trub, J., Nlend Nlend, R., Verp, S., Ruepp, M.-D., Imboden, H., Barde, I., Trono, D., Schumperli, D.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 587 KB

english, 2008

18

Editorial Board

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 26 KB

english, 2008

19

Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism

Swanberg, S. E., Nagarajan, R. P., Peddada, S., Yasui, D. H., LaSalle, J. M.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 486 KB

english, 2008

20

Contents Page

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 37 KB

english, 2008

21

A Runx2 threshold for the cleidocranial dysplasia phenotype

Lou, Y., Javed, A., Hussain, S., Colby, J., Frederick, D., Pratap, J., Xie, R., Gaur, T., van Wijnen, A. J., Jones, S. N., Stein, G. S., Lian, J. B., Stein, J. L.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.14 MB

english, 2008

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