Volume 23; Issue 3

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Human Molecular Genetics
Volume 23; Issue 3

Human Molecular Genetics

Volume 23; Issue 3

1

Genetic comorbidities in Parkinson's disease

Nalls, M. A., Saad, M., Noyce, A. J., Keller, M. F., Schrag, A., Bestwick, J. P., Traynor, B. J., Gibbs, J. R., Hernandez, D. G., Cookson, M. R., Morris, H. R., Williams, N., Gasser, T., Heutink, P.,

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 380 KB

english, 2014

2

Reversibility of neuropathology in Tay-Sachs-related diseases

Cachon-Gonzalez, M.-B., Wang, S. Z., Ziegler, R., Cheng, S. H., Cox, T. M.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 3.82 MB

english, 2014

3

Dynamic changes in DNA methylation and hydroxymethylation when hES cells undergo differentiation toward a neuronal lineage

Kim, M., Park, Y.-K., Kang, T.-W., Lee, S.-H., Rhee, Y.-H., Park, J.-L., Kim, H.-J., Lee, D., Lee, D., Kim, S.-Y., Kim, Y. S.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.83 MB

english, 2014

4

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals

Jerber, J., Baas, D., Soulavie, F., Chhin, B., Cortier, E., Vesque, C., Thomas, J., Durand, B.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2014

5

Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity

Pei, Y.-F., Zhang, L., Liu, Y., Li, J., Shen, H., Liu, Y.-Z., Tian, Q., He, H., Wu, S., Ran, S., Han, Y., Hai, R., Lin, Y., Zhu, J., Zhu, X.-Z., Papasian, C. J., Deng, H.-W.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 369 KB

english, 2014

6

DJ-1 modulates aggregation and pathogenesis in models of Huntington's disease

Sajjad, M. U., Green, E. W., Miller-Fleming, L., Hands, S., Herrera, F., Campesan, S., Khoshnan, A., Outeiro, T. F., Giorgini, F., Wyttenbach, A.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 869 KB

english, 2014

7

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

Dols-Icardo, O., Garcia-Redondo, A., Rojas-Garcia, R., Sanchez-Valle, R., Noguera, A., Gomez-Tortosa, E., Pastor, P., Hernandez, I., Esteban-Perez, J., Suarez-Calvet, M., Anton-Aguirre, S., Amer, G.,

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 268 KB

english, 2014

8

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation

Mahadevan, S., Wen, S., Wan, Y.-W., Peng, H.-H., Otta, S., Liu, Z., Iacovino, M., Mahen, E. M., Kyba, M., Sadikovic, B., Van den Veyver, I. B.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2014

9

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation

Goodwin, A. F., Tidyman, W. E., Jheon, A. H., Sharir, A., Zheng, X., Charles, C., Fagin, J. A., McMahon, M., Diekwisch, T. G. H., Ganss, B., Rauen, K. A., Klein, O. D.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 2.27 MB

english, 2014

10

Genome-wide association study of ancestry-specific TB risk in the South African Coloured population

Chimusa, E. R., Zaitlen, N., Daya, M., Moller, M., van Helden, P. D., Mulder, N. J., Price, A. L., Hoal, E. G.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 566 KB

english, 2014

11

Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice

Casadei, N., Pohler, A.-M., Tomas-Zapico, C., Torres-Peraza, J., Schwedhelm, I., Witz, A., Zamolo, I., De Heer, R., Spruijt, B., Noldus, L. P. J. J., Klucken, J., Lucas, J. J., Kahle, P. J., Kruger, R

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2014

12

Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits

Zhang, L., Meng, K., Jiang, X., Liu, C., Pao, A., Belichenko, P. V., Kleschevnikov, A. M., Josselyn, S., Liang, P., Ye, P., Mobley, W. C., Yu, Y. E.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2014

13

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease

Newman, M., Wilson, L., Verdile, G., Lim, A., Khan, I., Moussavi Nik, S. H., Pursglove, S., Chapman, G., Martins, R. N., Lardelli, M.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 700 KB

english, 2014

14

Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation

Dai, Y., Zheng, K., Clark, J., Swerdlow, R. H., Pulst, S. M., Sutton, J. P., Shinobu, L. A., Simon, D. K.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1016 KB

english, 2014

15

Altered CpG methylation in sporadic Alzheimer's disease is associated with APP and MAPT dysregulation

Iwata, A., Nagata, K., Hatsuta, H., Takuma, H., Bundo, M., Iwamoto, K., Tamaoka, A., Murayama, S., Saido, T., Tsuji, S.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 692 KB

english, 2014

16

Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes

Zhang, X., Johnson, A. D., Hendricks, A. E., Hwang, S.-J., Tanriverdi, K., Ganesh, S. K., Smith, N. L., Peyser, P. A., Freedman, J. E., O'Donnell, C. J.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 689 KB

english, 2014

17

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence

Haller, G., Kapoor, M., Budde, J., Xuei, X., Edenberg, H., Nurnberger, J., Kramer, J., Brooks, A., Tischfield, J., Almasy, L., Agrawal, A., Bucholz, K., Rice, J., Saccone, N., Bierut, L., Goate, A.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 221 KB

english, 2014

18

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin

Ehrnhoefer, D. E., Skotte, N. H., Ladha, S., Nguyen, Y. T. N., Qiu, X., Deng, Y., Huynh, K. T., Engemann, S., Nielsen, S. M., Becanovic, K., Leavitt, B. R., Hasholt, L., Hayden, M. R.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 845 KB

english, 2014

19

Subscription Page

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 32 KB

english, 2014

20

Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis

Wang, H., Yang, B., Qiu, L., Yang, C., Kramer, J., Su, Q., Guo, Y., Brown, R. H., Gao, G., Xu, Z.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2014

21

Editorial Board

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 24 KB

english, 2014

22

Contents Page

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 35 KB

english, 2014

23

Cover Page

Journal:

Human Molecular Genetics

Année:

2014

Fichier:

PDF, 898 KB

2014

24

Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia

Meissner, B., Bartram, T., Eckert, C., Trka, J., Panzer-Grumayer, R., Hermanova, I., Ellinghaus, E., Franke, A., Moricke, A., Schrauder, A., Teigler-Schlegel, A., Dorge, P., von Stackelberg, A., Basso

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2014

25

Tsc1 deficiency-mediated mTOR hyperactivation in vascular endothelial cells causes angiogenesis defects and embryonic lethality

Ma, A., Wang, L., Gao, Y., Chang, Z., Peng, H., Zeng, N., Gui, Y.-S., Tian, X., Li, X., Cai, B., Zhang, H., Xu, K.-F.

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 2.58 MB

english, 2014