Volume 21; Issue 18

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Human Molecular Genetics
Volume 21; Issue 18

Human Molecular Genetics

Volume 21; Issue 18

1

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein

Neumann, L. C., Markaki, Y., Mladenov, E., Hoffmann, D., Buiting, K., Horsthemke, B.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

2

Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome

Balmer, N. V., Weng, M. K., Zimmer, B., Ivanova, V. N., Chambers, S. M., Nikolaeva, E., Jagtap, S., Sachinidis, A., Hescheler, J., Waldmann, T., Leist, M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 489 KB

english, 2012

3

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Trabzuni, D., Wray, S., Vandrovcova, J., Ramasamy, A., Walker, R., Smith, C., Luk, C., Gibbs, J. R., Dillman, A., Hernandez, D. G., Arepalli, S., Singleton, A. B., Cookson, M. R., Pittman, A. M., de S

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 342 KB

english, 2012

4

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells

Lefevre, S., Brossas, C., Auchere, F., Boggetto, N., Camadro, J.-M., Santos, R.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 587 KB

english, 2012

5

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

Biswas, K., Das, R., Eggington, J. M., Qiao, H., North, S. L., Stauffer, S., Burkett, S. S., Martin, B. K., Southon, E., Sizemore, S. C., Pruss, D., Bowles, K. R., Roa, B. B., Hunter, N., Tessarollo,

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 580 KB

english, 2012

6

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

Cipriani, V., Leung, H.-T., Plagnol, V., Bunce, C., Khan, J. C., Shahid, H., Moore, A. T., Harding, S. P., Bishop, P. N., Hayward, C., Campbell, S., Armbrecht, A. M., Dhillon, B., Deary, I. J., Campbe

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 235 KB

english, 2012

7

A persistent level of Cisd2 extends healthy lifespan and delays aging in mice

Wu, C.-Y., Chen, Y.-F., Wang, C.-H., Kao, C.-H., Zhuang, H.-W., Chen, C.-C., Chen, L.-K., Kirby, R., Wei, Y.-H., Tsai, S.-F., Tsai, T.-F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 929 KB

english, 2012

8

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties

Campanella, A., Privitera, D., Guaraldo, M., Rovelli, E., Barzaghi, C., Garavaglia, B., Santambrogio, P., Cozzi, A., Levi, S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 437 KB

english, 2012

9

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1

Wat, M. J., Beck, T. F., Hernandez-Garcia, A., Yu, Z., Veenma, D., Garcia, M., Holder, A. M., Wat, J. J., Chen, Y., Mohila, C. A., Lally, K. P., Dickinson, M., Tibboel, D., de Klein, A., Lee, B., Scot

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

10

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 31 KB

english, 2012

11

Expression of PRPF31 and TFPT: regulation in health and retinal disease

Rose, A. M., Shah, A. Z., Waseem, N. H., Chakarova, C. F., Alfano, G., Coussa, R. G., Ajlan, R., Koenekoop, R. K., Bhattacharya, S. S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

12

Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia

Xie, Y., Su, N., Jin, M., Qi, H., Yang, J., Li, C., Du, X., Luo, F., Chen, B., Shen, Y., Huang, H., Xian, C. J., Deng, C., Chen, L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 796 KB

english, 2012

13

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy

Ruparelia, A. A., Zhao, M., Currie, P. D., Bryson-Richardson, R. J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

14

Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cells

Motterle, A., Pu, X., Wood, H., Xiao, Q., Gor, S., Liang Ng, F., Chan, K., Cross, F., Shohreh, B., Poston, R. N., Tucker, A. T., Caulfield, M. J., Ye, S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 429 KB

english, 2012

15

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Rainger, J., Bengani, H., Campbell, L., Anderson, E., Sokhi, K., Lam, W., Riess, A., Ansari, M., Smithson, S., Lees, M., Mercer, C., McKenzie, K., Lengfeld, T., Gener Querol, B., Branney, P., McKay, S

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 534 KB

english, 2012

16

Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

Barrowman, J., Wiley, P. A., Hudon-Miller, S. E., Hrycyna, C. A., Michaelis, S.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 370 KB

english, 2012

17

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

Kayali, R., Ku, J.-M., Khitrov, G., Jung, M. E., Prikhodko, O., Bertoni, C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 414 KB

english, 2012

18

Cover Page

Journal:

Human Molecular Genetics

Year:

2012

File:

PDF, 504 KB

2012

19

Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder

Etain, B., Dumaine, A., Bellivier, F., Pagan, C., Francelle, L., Goubran-Botros, H., Moreno, S., Deshommes, J., Moustafa, K., Le Dudal, K., Mathieu, F., Henry, C., Kahn, J.-P., Launay, J.-M., Muhleise

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012