Volume 22; Issue 15

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Human Molecular Genetics
Volume 22; Issue 15

Human Molecular Genetics

Volume 22; Issue 15

1

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

Melko, M., Nguyen, L. S., Shaw, M., Jolly, L., Bardoni, B., Gecz, J.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 298 KB

english, 2013

2

De-repression of FOXO3a death axis by microRNA-132 and -212 causes neuronal apoptosis in Alzheimer's disease

Wong, H.-K. A., Veremeyko, T., Patel, N., Lemere, C. A., Walsh, D. M., Esau, C., Vanderburg, C., Krichevsky, A. M.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 2.50 MB

english, 2013

3

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

Zhang, Y.-J., Caulfield, T., Xu, Y.-F., Gendron, T. F., Hubbard, J., Stetler, C., Sasaguri, H., Whitelaw, E. C., Cai, S., Lee, W. C., Petrucelli, L.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 537 KB

english, 2013

4

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly

van Bon, B. W. M., Oortveld, M. A. W., Nijtmans, L. G., Fenckova, M., Nijhof, B., Besseling, J., Vos, M., Kramer, J. M., de Leeuw, N., Castells-Nobau, A., Asztalos, L., Viragh, E., Ruiter, M., Hofmann

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 4.63 MB

english, 2013

5

Smooth muscle hyperplasia due to loss of smooth muscle -actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-

Papke, C. L., Cao, J., Kwartler, C. S., Villamizar, C., Byanova, K. L., Lim, S.-M., Sreenivasappa, H., Fischer, G., Pham, J., Rees, M., Wang, M., Chaponnier, C., Gabbiani, G., Khakoo, A. Y., Chandra,

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 844 KB

english, 2013

6

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Kirin, M., Chandra, A., Charteris, D. G., Hayward, C., Campbell, S., Celap, I., Bencic, G., Vatavuk, Z., Kirac, I., Richards, A. J., Tenesa, A., Snead, M. P., Fleck, B. W., Singh, J., Harsum, S., MacL

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 262 KB

english, 2013

7

Genetic regulation of human adipose microRNA expression and its consequences for metabolic traits

Civelek, M., Hagopian, R., Pan, C., Che, N., Yang, W.-p., Kayne, P. S., Saleem, N. K., Cederberg, H., Kuusisto, J., Gargalovic, P. S., Kirchgessner, T. G., Laakso, M., Lusis, A. J.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 454 KB

english, 2013

8

Activation of p38 signaling increases utrophin A expression in skeletal muscle via the RNA-binding protein KSRP and inhibition of AU-rich element-mediated mRNA decay: implications for novel DMD therapeutics

Amirouche, A., Tadesse, H., Lunde, J. A., Belanger, G., Cote, J., Jasmin, B. J.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 884 KB

english, 2013

9

Subscription Page

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 28 KB

english, 2013

10

DNA co-methylation analysis suggests novel functional associations between gene pairs in breast cancer samples

Akulenko, R., Helms, V.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 150 KB

english, 2013

11

Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions

Rosin, J. M., Abassah-Oppong, S., Cobb, J.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 917 KB

english, 2013

12

Cover Page

Journal:

Human Molecular Genetics

Année:

2013

Fichier:

PDF, 566 KB

2013

13

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Ylikallio, E., Poyhonen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lonnqvist, T., Tyynismaa, H.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 528 KB

english, 2013

14

The Ras-GTPase activity of neurofibromin restrains ERK-dependent FGFR signaling during endochondral bone formation

Ono, K., Karolak, M. R., Ndong, J. d. l. C., Wang, W., Yang, X., Elefteriou, F.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 859 KB

english, 2013

15

Epigenome-wide ovarian cancer analysis identifies a methylation profile differentiating clear-cell histology with epigenetic silencing of the HERG K+ channel

Cicek, M. S., Koestler, D. C., Fridley, B. L., Kalli, K. R., Armasu, S. M., Larson, M. C., Wang, C., Winham, S. J., Vierkant, R. A., Rider, D. N., Block, M. S., Klotzle, B., Konecny, G., Winterhoff, B

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 208 KB

english, 2013

16

Evolutionarily conserved long intergenic non-coding RNAs in the eye

Mustafi, D., Kevany, B. M., Bai, X., Maeda, T., Sears, J. E., Khalil, A. M., Palczewski, K.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 638 KB

english, 2013

17

Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression

Kanagawa, M., Yu, C.-C., Ito, C., Fukada, S.-i., Hozoji-Inada, M., Chiyo, T., Kuga, A., Matsuo, M., Sato, K., Yamaguchi, M., Ito, T., Ohtsuka, Y., Katanosaka, Y., Miyagoe-Suzuki, Y., Naruse, K., Kobay

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2013

18

Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

Cattin, M.-E., Bertrand, A. T., Schlossarek, S., Le Bihan, M.-C., Skov Jensen, S., Neuber, C., Crocini, C., Maron, S., Laine, J., Mougenot, N., Varnous, S., Fromes, Y., Hansen, A., Eschenhagen, T., De

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 612 KB

english, 2013

19

Editorial Board

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 21 KB

english, 2013