Volume 24; Issue 5

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Human Molecular Genetics
Volume 24; Issue 5

Human Molecular Genetics

Volume 24; Issue 5

1

Aged monkey brains reveal the role of ubiquitin-conjugating enzyme UBE2N in the synaptosomal accumulation of mutant huntingtin

Yin, P., Tu, Z., Yin, A., Zhao, T., Yan, S., Guo, X., Chang, R., Zhang, L., Hong, Y., Huang, X., Zhou, J., Wang, Y., Li, S., Li, X.-J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

2

LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory

Beccano-Kelly, D. A., Volta, M., Munsie, L. N., Paschall, S. A., Tatarnikov, I., Co, K., Chou, P., Cao, L.-P., Bergeron, S., Mitchell, E., Han, H., Melrose, H. L., Tapia, L., Raymond, L. A., Farrer, M

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

3

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

McInerney-Leo, A. M., Sparrow, D. B., Harris, J. E., Gardiner, B. B., Marshall, M. S., O'Reilly, V. C., Shi, H., Brown, M. A., Leo, P. J., Zankl, A., Dunwoodie, S. L., Duncan, E. L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

4

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Kaneb, H. M., Folkmann, A. W., Belzil, V. V., Jao, L.-E., Leblond, C. S., Girard, S. L., Daoud, H., Noreau, A., Rochefort, D., Hince, P., Szuto, A., Levert, A., Vidal, S., Andre-Guimont, C., Camu, W.,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

5

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin

Johnson-Kerner, B. L., Ahmad, F. S., Diaz, A. G., Greene, J. P., Gray, S. J., Samulski, R. J., Chung, W. K., Van Coster, R., Maertens, P., Noggle, S. A., Henderson, C. E., Wichterle, H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

6

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Painter, J. N., O'Mara, T. A., Batra, J., Cheng, T., Lose, F. A., Dennis, J., Michailidou, K., Tyrer, J. P., Ahmed, S., Ferguson, K., Healey, C. S., Kaufmann, S., Hillman, K. M., Walpole, C., Moya, L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 473 KB

english, 2015

7

Selective disruption of Tcf7l2 in the pancreatic cell impairs secretory function and lowers cell mass

Mitchell, R. K., Mondragon, A., Chen, L., Mcginty, J. A., French, P. M., Ferrer, J., Thorens, B., Hodson, D. J., Rutter, G. A., Da Silva Xavier, G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

8

Genome-wide association study of selenium concentrations

Cornelis, M. C., Fornage, M., Foy, M., Xun, P., Gladyshev, V. N., Morris, S., Chasman, D. I., Hu, F. B., Rimm, E. B., Kraft, P., Jordan, J. M., Mozaffarian, D., He, K.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 259 KB

english, 2015

9

Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains

Bai, G., Cheung, I., Shulha, H. P., Coelho, J. E., Li, P., Dong, X., Jakovcevski, M., Wang, Y., Grigorenko, A., Jiang, Y., Hoss, A., Patel, K., Zheng, M., Rogaev, E., Myers, R. H., Weng, Z., Akbarian,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 854 KB

english, 2015

10

Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells

Gomez-Uriz, A. M., Milagro, F. I., Mansego, M. L., Cordero, P., Abete, I., De Arce, A., Goyenechea, E., Blazquez, V., Martinez-Zabaleta, M., Martinez, J. A., Lopez De Munain, A., Campion, J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 272 KB

english, 2015

11

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

Ramani, B., Harris, G. M., Huang, R., Seki, T., Murphy, G. G., Costa, M. d. C., Fischer, S., Saunders, T. L., Xia, G., McEachin, R. C., Paulson, H. L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 924 KB

english, 2015

12

Epigenetic germline mosaicism in infertile men

Laurentino, S., Beygo, J., Nordhoff, V., Kliesch, S., Wistuba, J., Borgmann, J., Buiting, K., Horsthemke, B., Gromoll, J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 537 KB

english, 2015

13

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

Gazina, E. V., Leaw, B. T. W., Richards, K. L., Wimmer, V. C., Kim, T. H., Aumann, T. D., Featherby, T. J., Churilov, L., Hammond, V. E., Reid, C. A., Petrou, S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 859 KB

english, 2015

14

Expression inactivation of SMARCA4 by microRNAs in lung tumors

Coira, I. F., Rufino-Palomares, E. E., Romero, O. A., Peinado, P., Metheetrairut, C., Boyero-Corral, L., Carretero, J., Farez-Vidal, E., Cuadros, M., Reyes-Zurita, F. J., Lupianez, J. A., Sanchez-Cesp

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 540 KB

english, 2015

15

Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behavior

Baek, J.-H., Schmidt, E., Viceconte, N., Strandgren, C., Pernold, K., Richard, T. J. C., Van Leeuwen, F. W., Dantuma, N. P., Damberg, P., Hultenby, K., Ulfhake, B., Mugnaini, E., Rozell, B., Eriksson,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

16

Indications for distinct pathogenic mechanisms of asbestos and silica through gene expression profiling of the response of lung epithelial cells

Perkins, T. N., Peeters, P. M., Shukla, A., Arijs, I., Dragon, J., Wouters, E. F. M., Reynaert, N. L., Mossman, B. T.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

17

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

Wood, A. R., Tuke, M. A., Nalls, M., Hernandez, D., Gibbs, J. R., Lin, H., Xu, C. S., Li, Q., Shen, J., Jun, G., Almeida, M., Tanaka, T., Perry, J. R. B., Gaulton, K., Rivas, M., Pearson, R., Curran,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 264 KB

english, 2015

18

Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson's disease

Johnson, W. M., Yao, C., Siedlak, S. L., Wang, W., Zhu, X., Caldwell, G. A., Wilson-Delfosse, A. L., Mieyal, J. J., Chen, S. G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

19

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome

Peng, Z., Zhou, W., Fu, W., Du, R., Jin, L., Zhang, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 413 KB

english, 2015

20

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/ -catenin signaling

Zancan, I., Bellesso, S., Costa, R., Salvalaio, M., Stroppiano, M., Hammond, C., Argenton, F., Filocamo, M., Moro, E.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

21

Contents Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 38 KB

english, 2015

22

Becker muscular dystrophy severity is linked to the structure of dystrophin

Nicolas, A., Raguenes-Nicol, C., Ben Yaou, R., Ameziane-Le Hir, S., Cheron, A., Vie, V., Claustres, M., Leturcq, F., Delalande, O., Hubert, J.-F., Tuffery-Giraud, S., Giudice, E., Le Rumeur, E.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 767 KB

english, 2015

23

Direct interplay between two candidate genes in FSHD muscular dystrophy

Ferri, G., Huichalaf, C. H., Caccia, R., Gabellini, D.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 503 KB

english, 2015

24

Editorial Board

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 22 KB

english, 2015

25

Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation

Al-Rewashdy, H., Ljubicic, V., Lin, W., Renaud, J.-M., Jasmin, B. J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

26

Subscription Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 31 KB

english, 2015

27

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 907 KB

english, 2015

28

Cover Page

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 385 KB

2015

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