Volume 22; Issue 2

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Human Molecular Genetics
Volume 22; Issue 2

Human Molecular Genetics

Volume 22; Issue 2

1

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Amin Al Olama, A., Kote-Jarai, Z., Schumacher, F. R., Wiklund, F., Berndt, S. I., Benlloch, S., Giles, G. G., Severi, G., Neal, D. E., Hamdy, F. C., Donovan, J. L., Hunter, D. J., Henderson, B. E., Th

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 218 KB

english, 2013

2

Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability

Gharanei, S., Zatyka, M., Astuti, D., Fenton, J., Sik, A., Nagy, Z., Barrett, T. G.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 642 KB

english, 2013

3

Universal heteroplasmy of human mitochondrial DNA

Payne, B. A. I., Wilson, I. J., Yu-Wai-Man, P., Coxhead, J., Deehan, D., Horvath, R., Taylor, R. W., Samuels, D. C., Santibanez-Koref, M., Chinnery, P. F.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 160 KB

english, 2013

4

The FTD/ALS-associated RNA-binding protein TDP-43 regulates the robustness of neuronal specification through microRNA-9a in Drosophila

Li, Z., Lu, Y., Xu, X.-L., Gao, F.-B.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

5

VPA response in SMA is suppressed by the fatty acid translocase CD36

Garbes, L., Heesen, L., Holker, I., Bauer, T., Schreml, J., Zimmermann, K., Thoenes, M., Walter, M., Dimos, J., Peitz, M., Brustle, O., Heller, R., Wirth, B.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

6

Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity

Yao, C., Johnson, W. M., Gao, Y., Wang, W., Zhang, J., Deak, M., Alessi, D. R., Zhu, X., Mieyal, J. J., Roder, H., Wilson-Delfosse, A. L., Chen, S. G.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 669 KB

english, 2013

7

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes

Cirstea, I. C., Gremer, L., Dvorsky, R., Zhang, S.-C., Piekorz, R. P., Zenker, M., Ahmadian, M. R.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 368 KB

english, 2013

8

Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia

Dee, C. T., Szymoniuk, C. R., Mills, P. E. D., Takahashi, T.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 543 KB

english, 2013

9

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

Hansen, S. T., Meera, P., Otis, T. S., Pulst, S. M.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 658 KB

english, 2013

10

Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice

Lang, M., Wither, R. G., Brotchie, J. M., Wu, C., Zhang, L., Eubanks, J. H.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 697 KB

english, 2013

11

A sequence-based approach demonstrates that balancing selection in classical human leukocyte antigen (HLA) loci is asymmetric

Bronson, P. G., Mack, S. J., Erlich, H. A., Slatkin, M.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 343 KB

english, 2013

12

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type

Geister, K. A., Brinkmeier, M. L., Hsieh, M., Faust, S. M., Karolyi, I. J., Perosky, J. E., Kozloff, K. M., Conti, M., Camper, S. A.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 620 KB

english, 2013

13

A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart

Ibrahim, M., Siedlecka, U., Buyandelger, B., Harada, M., Rao, C., Moshkov, A., Bhargava, A., Schneider, M., Yacoub, M. H., Gorelik, J., Knoll, R., Terracciano, C. M.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 519 KB

english, 2013

14

Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas

Kurelac, I., MacKay, A., Lambros, M. B. K., Di Cesare, E., Cenacchi, G., Ceccarelli, C., Morra, I., Melcarne, A., Morandi, L., Calabrese, F. M., Attimonelli, M., Tallini, G., Reis-Filho, J. S., Gaspar

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 562 KB

english, 2013

15

The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis

Gaur, K., Li, J., Wang, D., Dutta, P., Yan, S.-J., Tsurumi, A., Land, H., Wu, G., Li, W. X.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 628 KB

english, 2013

16

Editorial Board

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 20 KB

english, 2013

17

Subscription Page

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 30 KB

english, 2013

18

Cover Page

Journal:

Human Molecular Genetics

Year:

2013

File:

PDF, 265 KB

2013

19

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Lemmens, R., Maugeri, A., Niessen, H. W. M., Goris, A., Tousseyn, T., Demaerel, P., Corveleyn, A., Robberecht, W., van der Knaap, M. S., Thijs, V. N., Zwijnenburg, P. J. G.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 294 KB

english, 2013

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