Volume 21; Issue 22

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Human Molecular Genetics
Volume 21; Issue 22

Human Molecular Genetics

Volume 21; Issue 22

1

Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspots

Li, Y., Zhang, L., Ball, R. L., Liang, X., Li, J., Lin, Z., Liang, H.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 5.91 MB

english, 2012

2

Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex

El Wakil, A., Bandulik, S., Guy, N., Bendahhou, S., Zennaro, M.-C., Niehrs, C., Mari, B., Warth, R., Barhanin, J., Lalli, E.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 647 KB

english, 2012

3

Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit

Pham, A. H., Meng, S., Chu, Q. N., Chan, D. C.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 953 KB

english, 2012

4

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons

Lee, S., Sterky, F. H., Mourier, A., Terzioglu, M., Cullheim, S., Olson, L., Larsson, N.-G.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 907 KB

english, 2012

5

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Campeau, P. M., Lu, J. T., Sule, G., Jiang, M.-M., Bae, Y., Madan, S., Hogler, W., Shaw, N. J., Mumm, S., Gibbs, R. A., Whyte, M. P., Lee, B. H.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 262 KB

english, 2012

6

Cover Page

Journal:

Human Molecular Genetics

Année:

2012

Fichier:

PDF, 646 KB

2012

7

ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons

Joselin, A. P., Hewitt, S. J., Callaghan, S. M., Kim, R. H., Chung, Y.-H., Mak, T. W., Shen, J., Slack, R. S., Park, D. S.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2012

8

Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice

Mollersen, L., Rowe, A. D., Illuzzi, J. L., Hildrestrand, G. A., Gerhold, K. J., Tveteras, L., Bjolgerud, A., Wilson, D. M., Bjoras, M., Klungland, A.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 356 KB

english, 2012

9

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4

Salewsky, B., Schmiester, M., Schindler, D., Digweed, M., Demuth, I.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 228 KB

english, 2012

10

LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6

Berwick, D. C., Harvey, K.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 763 KB

english, 2012

11

Converging evidence that sequence variations in the novel candidate gene MAP2K7 (MKK7) are functionally associated with schizophrenia

Winchester, C. L., Ohzeki, H., Vouyiouklis, D. A., Thompson, R., Penninger, J. M., Yamagami, K., Norrie, J. D., Hunter, R., Pratt, J. A., Morris, B. J.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 283 KB

english, 2012

12

High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity

Kim, S. H., Zhan, L., Hanson, K. A., Tibbetts, R. S.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 623 KB

english, 2012

13

Pancreatic beta-cell function and type 2 diabetes risk: quantify the causal effect using a Mendelian randomization approach based on meta-analyses

Song, Y., Yeung, E., Liu, A., VanderWeele, T. J., Chen, L., Lu, C., Liu, C., Schisterman, E. F., Ning, Y., Zhang, C.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 245 KB

english, 2012

14

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

Timofeeva, M. N., Hung, R. J., Rafnar, T., Christiani, D. C., Field, J. K., Bickeboller, H., Risch, A., McKay, J. D., Wang, Y., Dai, J., Gaborieau, V., McLaughlin, J., Brenner, D., Narod, S. A., Capor

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 670 KB

english, 2012

15

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome

Wells, T., Davies, J. R., Guschina, I. A., Ball, D. J., Davies, J. S., Davies, V. J., Evans, B. A. J., Votruba, M.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 331 KB

english, 2012

16

Subscription Page

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 27 KB

english, 2012

17

Contents Page

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 34 KB

english, 2012

18

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Keller, M. F., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Buchel, F., Sharma, M., Gibbs, J. R., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L. L., G

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 253 KB

english, 2012

19

Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease

Elrick, M. J., Yu, T., Chung, C., Lieberman, A. P.

Journal:

Human Molecular Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 505 KB

english, 2012