Volume 21; Issue 26

Main
Human Molecular Genetics
Volume 21; Issue 26

Human Molecular Genetics

Volume 21; Issue 26

1

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia

Jin, M., Yu, Y., Qi, H., Xie, Y., Su, N., Wang, X., Tan, Q., Luo, F., Zhu, Y., Wang, Q., Du, X., Xian, C. J., Liu, P., Huang, H., Shen, Y., Deng, C.-X., Chen, D., Chen, L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 687 KB

english, 2012

2

Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum

Wang, T., Pan, Q., Lin, L., Szulwach, K. E., Song, C.-X., He, C., Wu, H., Warren, S. T., Jin, P., Duan, R., Li, X.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

3

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ

Habbig, S., Bartram, M. P., Sagmuller, J. G., Griessmann, A., Franke, M., Muller, R.-U., Schwarz, R., Hoehne, M., Bergmann, C., Tessmer, C., Reinhardt, H. C., Burst, V., Benzing, T., Schermer, B.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 411 KB

english, 2012

4

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

Hekman, K. E., Yu, G.-Y., Brown, C. D., Zhu, H., Du, X., Gervin, K., Undlien, D. E., Peterson, A., Stevanin, G., Clark, H. B., Pulst, S. M., Bird, T. D., White, K. P., Gomez, C. M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 444 KB

english, 2012

5

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

Welander, J., Larsson, C., Backdahl, M., Hareni, N., Sivler, T., Brauckhoff, M., Soderkvist, P., Gimm, O.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

6

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Burnichon, N., Buffet, A., Parfait, B., Letouze, E., Laurendeau, I., Loriot, C., Pasmant, E., Abermil, N., Valeyrie-Allanore, L., Bertherat, J., Amar, L., Vidaud, D., Favier, J., Gimenez-Roqueplo, A.-

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

7

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

8

Cover Page

Journal:

Human Molecular Genetics

Year:

2012

File:

PDF, 189 KB

2012

9

A novel role for doublecortin and doublecortin-like kinase in regulating growth cone microtubules

Jean, D. C., Baas, P. W., Black, M. M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 618 KB

english, 2012

10

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

Peoc'h, K., Levavasseur, E., Delmont, E., De Simone, A., Laffont-Proust, I., Privat, N., Chebaro, Y., Chapuis, C., Bedoucha, P., Brandel, J.-P., Laquerriere, A., Kemeny, J.-L., Hauw, J.-J., Borg, M.,

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 792 KB

english, 2012

11

A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes

El-Kasti, M. M., Wells, T., Carter, D. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 435 KB

english, 2012

12

Editorial Board

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 20 KB

english, 2012

13

Contents Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 28 KB

english, 2012