Volume 23; Issue 7

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Human Molecular Genetics
Volume 23; Issue 7

Human Molecular Genetics

Volume 23; Issue 7

1

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy

See, K., Yadav, P., Giegerich, M., Cheong, P. S., Graf, M., Vyas, H., Lee, S. G. P., Mathavan, S., Fischer, U., Sendtner, M., Winkler, C.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 948 KB

english, 2014

2

-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

Garton, F. C., Seto, J. T., Quinlan, K. G. R., Yang, N., Houweling, P. J., North, K. N.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 736 KB

english, 2014

3

Functional microRNAs and target sites are created by lineage-specific transposition

Spengler, R. M., Oakley, C. K., Davidson, B. L.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 648 KB

english, 2014

4

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling

Kawahara, G., Gasperini, M. J., Myers, J. A., Widrick, J. J., Eran, A., Serafini, P. R., Alexander, M. S., Pletcher, M. T., Morris, C. A., Kunkel, L. M.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 672 KB

english, 2014

5

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Tort, F., Ferrer-Cortes, X., Thio, M., Navarro-Sastre, A., Matalonga, L., Quintana, E., Bujan, N., Arias, A., Garcia-Villoria, J., Acquaviva, C., Vianey-Saban, C., Artuch, R., Garcia-Cazorla, A., Brio

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 711 KB

english, 2014

6

Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes

Bernard, C., Kim, H.-T., Torero Ibad, R., Lee, E. J., Simonutti, M., Picaud, S., Acampora, D., Simeone, A., Di Nardo, A. A., Prochiantz, A., Moya, K. L., Kim, J. W.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 595 KB

english, 2014

7

DNAJC13 mutations in Parkinson disease

Vilarino-Guell, C., Rajput, A., Milnerwood, A. J., Shah, B., Szu-Tu, C., Trinh, J., Yu, I., Encarnacion, M., Munsie, L. N., Tapia, L., Gustavsson, E. K., Chou, P., Tatarnikov, I., Evans, D. M., Pishot

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 536 KB

english, 2014

8

Functional characterization of SIM1-associated enhancers

Kim, M. J., Oksenberg, N., Hoffmann, T. J., Vaisse, C., Ahituv, N.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 814 KB

english, 2014

9

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

Zhang, L., Choi, H. J., Estrada, K., Leo, P. J., Li, J., Pei, Y.-F., Zhang, Y., Lin, Y., Shen, H., Liu, Y.-Z., Liu, Y., Zhao, Y., Zhang, J.-G., Tian, Q., Wang, Y.-p., Han, Y., Ran, S., Hai, R., Zhu, X

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 447 KB

english, 2014

10

Hypomethylation signature of tumor-initiating cells predicts poor prognosis of ovarian cancer patients

Liao, Y.-P., Chen, L.-Y., Huang, R.-L., Su, P.-H., Chan, M. W. Y., Chang, C.-C., Yu, M.-H., Wang, P.-H., Yen, M.-S., Nephew, K. P., Lai, H.-C.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.54 MB

english, 2014

11

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

Milne, R. L., Herranz, J., Michailidou, K., Dennis, J., Tyrer, J. P., Zamora, M. P., Arias-Perez, J. I., Gonzalez-Neira, A., Pita, G., Alonso, M. R., Wang, Q., Bolla, M. K., Czene, K., Eriksson, M., H

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 351 KB

english, 2014

12

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

Alves, A. C., Etxebarria, A., Soutar, A. K., Martin, C., Bourbon, M.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 418 KB

english, 2014

13

LRP4 third -propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Ohkawara, B., Cabrera-Serrano, M., Nakata, T., Milone, M., Asai, N., Ito, K., Ito, M., Masuda, A., Ito, Y., Engel, A. G., Ohno, K.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

14

Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein

Mincheva-Tasheva, S., Obis, E., Tamarit, J., Ros, J.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.85 MB

english, 2014

15

P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis

Sakami, S., Kolesnikov, A. V., Kefalov, V. J., Palczewski, K.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 3.47 MB

english, 2014

16

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Goris, A., van Setten, J., Diekstra, F., Ripke, S., Patsopoulos, N. A., Sawcer, S. J., van Es, M., Andersen, P. M., Melki, J., Meininger, V., Hardiman, O., Landers, J. E., Brown, R. H., Shatunov, A.,

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 283 KB

english, 2014

17

Sex- and age-interacting eQTLs in human complex diseases

Yao, C., Joehanes, R., Johnson, A. D., Huan, T., Esko, T., Ying, S., Freedman, J. E., Murabito, J., Lunetta, K. L., Metspalu, A., Munson, P. J., Levy, D.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 670 KB

english, 2014

18

Editorial Board

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 24 KB

english, 2014

19

Contents Page

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 40 KB

english, 2014

20

Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin

McDade, J. R., Michele, D. E.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

21

Comparative receptor tyrosine kinase profiling identifies a novel role for AXL in human stem cell pluripotency

Son, M.-Y., Seol, B., Han, Y.-M., Cho, Y. S.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.89 MB

english, 2014

22

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Kuo, D. S., Labelle-Dumais, C., Mao, M., Jeanne, M., Kauffman, W. B., Allen, J., Favor, J., Gould, D. B.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.73 MB

english, 2014

23

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory

Cao, L., Molina, J., Abad, C., Carmona-Mora, P., Cardenas Oyarzo, A., Young, J. I., Walz, K.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

24

Subscription Page

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 36 KB

english, 2014

25

Cover Page

Journal:

Human Molecular Genetics

Year:

2014

File:

PDF, 180 KB

2014

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