Volume 21; Issue 9

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Human Molecular Genetics
Volume 21; Issue 9

Human Molecular Genetics

Volume 21; Issue 9

1

The DNA translocase activity of FANCM protects stalled replication forks

Blackford, A. N., Schwab, R. A., Nieminuszczy, J., Deans, A. J., West, S. C., Niedzwiedz, W.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 761 KB

english, 2012

2

Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila

Qurashi, A., Liu, H., Ray, L., Nelson, D. L., Duan, R., Jin, P.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 334 KB

english, 2012

3

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

Purevjav, E., Arimura, T., Augustin, S., Huby, A.-C., Takagi, K., Nunoda, S., Kearney, D. L., Taylor, M. D., Terasaki, F., Bos, J. M., Ommen, S. R., Shibata, H., Takahashi, M., Itoh-Satoh, M., McKenna

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 959 KB

english, 2012

4

Genetic and epigenetic mechanisms collaborate to control SERPINA3 expression and its association with placental diseases

Chelbi, S. T., Wilson, M. L., Veillard, A.-C., Ingles, S. A., Zhang, J., Mondon, F., Gascoin-Lachambre, G., Doridot, L., Mignot, T.-M., Rebourcet, R., Carbonne, B., Concordet, J.-P., Barbaux, S., Vaim

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 350 KB

english, 2012

5

Transcriptional analysis of pluripotency reveals the Hippo pathway as a barrier to reprogramming

Qin, H., Blaschke, K., Wei, G., Ohi, Y., Blouin, L., Qi, Z., Yu, J., Yeh, R.-F., Hebrok, M., Ramalho-Santos, M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 648 KB

english, 2012

6

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

An, P., Wu, Q., Wang, H., Guan, Y., Mu, M., Liao, Y., Zhou, D., Song, P., Wang, C., Meng, L., Man, Q., Li, L., Zhang, J., Wang, F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 120 KB

english, 2012

7

Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies

Abnet, C. C., Wang, Z., Song, X., Hu, N., Zhou, F.-Y., Freedman, N. D., Li, X.-M., Yu, K., Shu, X.-O., Yuan, J.-M., Zheng, W., Dawsey, S. M., Liao, L. M., Lee, M. P., Ding, T., Qiao, Y.-L., Gao, Y.-T.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 389 KB

english, 2012

8

The effects of EBV transformation on gene expression levels and methylation profiles

Caliskan, M., Cusanovich, D. A., Ober, C., Gilad, Y.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 24 KB

english, 2012

9

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 21 KB

english, 2012

10

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 31 KB

english, 2012

11

LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1

Wang, X., Yan, M. H., Fujioka, H., Liu, J., Wilson-Delfosse, A., Chen, S. G., Perry, G., Casadesus, G., Zhu, X.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 871 KB

english, 2012

12

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice

Uribe, V., Wong, B. K. Y., Graham, R. K., Cusack, C. L., Skotte, N. H., Pouladi, M. A., Xie, Y., Feinberg, K., Ou, Y., Ouyang, Y., Deng, Y., Franciosi, S., Bissada, N., Spreeuw, A., Zhang, W., Ehrnhoe

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 460 KB

english, 2012

13

Amelioration of Duchenne muscular dystrophy in mdx mice by elimination of matrix-associated fibrin-driven inflammation coupled to the M 2 leukocyte integrin receptor

Vidal, B., Ardite, E., Suelves, M., Ruiz-Bonilla, V., Janue, A., Flick, M. J., Degen, J. L., Serrano, A. L., Munoz-Canoves, P.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 786 KB

english, 2012

14

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Zhang, Q., Seo, S., Bugge, K., Stone, E. M., Sheffield, V. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

15

IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility

Ha Nguyen, H., Takata, R., Akamatsu, S., Shigemizu, D., Tsunoda, T., Furihata, M., Takahashi, A., Kubo, M., Kamatani, N., Ogawa, O., Fujioka, T., Nakamura, Y., Nakagawa, H.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 427 KB

english, 2012

16

Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA

Low, S.-K., Takahashi, A., Cha, P.-C., Zembutsu, H., Kamatani, N., Kubo, M., Nakamura, Y.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 324 KB

english, 2012

17

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

Morotz, G. M., De Vos, K. J., Vagnoni, A., Ackerley, S., Shaw, C. E., Miller, C. C. J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 353 KB

english, 2012

18

The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes

Cusanovich, D. A., Billstrand, C., Zhou, X., Chavarria, C., De Leon, S., Michelini, K., Pai, A. A., Ober, C., Gilad, Y.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 328 KB

english, 2012

19

A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events

Sarbajna, S., Denniff, M., Jeffreys, A. J., Neumann, R., Soler Artigas, M., Veselis, A., May, C. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 389 KB

english, 2012

20

Contents Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 33 KB

english, 2012

21

Disrupted in Schizophrenia 1 forms pathological aggresomes that disrupt its function in intracellular transport

Atkin, T. A., Brandon, N. J., Kittler, J. T.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 594 KB

english, 2012

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