Volume 21; Issue 10

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Human Molecular Genetics
Volume 21; Issue 10

Human Molecular Genetics

Volume 21; Issue 10

1

Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy

Vidal, R. L., Figueroa, A., Court, F. A., Thielen, P., Molina, C., Wirth, C., Caballero, B., Kiffin, R., Segura-Aguilar, J., Cuervo, A. M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 4.63 MB

english, 2012

2

Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes

McKinney, C., Merriman, T. R.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 256 KB

english, 2012

3

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Winkelmann, J., Lin, L., Schormair, B., Kornum, B. R., Faraco, J., Plazzi, G., Melberg, A., Cornelio, F., Urban, A. E., Pizza, F., Poli, F., Grubert, F., Wieland, T., Graf, E., Hallmayer, J., Strom, T

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 340 KB

english, 2012

4

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome

Kerzendorfer, C., Hannes, F., Colnaghi, R., Abramowicz, I., Carpenter, G., Vermeesch, J. R., O'Driscoll, M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 556 KB

english, 2012

5

Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity

Hodge, J. C., Kim, T.-M., Dreyfuss, J. M., Somasundaram, P., Christacos, N. C., Rousselle, M., Quade, B. J., Park, P. J., Stewart, E. A., Morton, C. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 681 KB

english, 2012

6

Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function

Sakabe, N. J., Aneas, I., Shen, T., Shokri, L., Park, S.-Y., Bulyk, M. L., Evans, S. M., Nobrega, M. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 361 KB

english, 2012

7

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice

Pouladi, M. A., Stanek, L. M., Xie, Y., Franciosi, S., Southwell, A. L., Deng, Y., Butland, S., Zhang, W., Cheng, S. H., Shihabuddin, L. S., Hayden, M. R.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 446 KB

english, 2012

8

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Lanciotti, A., Brignone, M. S., Molinari, P., Visentin, S., De Nuccio, C., Macchia, G., Aiello, C., Bertini, E., Aloisi, F., Petrucci, T. C., Ambrosini, E.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 665 KB

english, 2012

9

Upregulation of brain utrophin does not rescue behavioral alterations in dystrophin-deficient mice

Perronnet, C., Chagneau, C., Le Blanc, P., Samson-Desvignes, N., Mornet, D., Laroche, S., De La Porte, S., Vaillend, C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 367 KB

english, 2012

10

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome

Till, S. M., Wijetunge, L. S., Seidel, V. G., Harlow, E., Wright, A. K., Bagni, C., Contractor, A., Gillingwater, T. H., Kind, P. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 739 KB

english, 2012

11

MicroRNA-22 is induced by vitamin D and contributes to its antiproliferative, antimigratory and gene regulatory effects in colon cancer cells

Alvarez-Diaz, S., Valle, N., Ferrer-Mayorga, G., Lombardia, L., Herrera, M., Dominguez, O., Segura, M. F., Bonilla, F., Hernando, E., Munoz, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 461 KB

english, 2012

12

Bcl-2-associated autophagy regulator Naf-1 required for maintenance of skeletal muscle

Chang, N. C., Nguyen, M., Bourdon, J., Risse, P.-A., Martin, J., Danialou, G., Rizzuto, R., Petrof, B. J., Shore, G. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

13

Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity

Jaillard, C., Mouret, A., Niepon, M.-L., Clerin, E., Yang, Y., Lee-Rivera, I., Ait-Ali, N., Millet-Puel, G., Cronin, T., Sedmak, T., Raffelsberger, W., Kinzel, B., Trembleau, A., Poch, O., Bennett, J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 707 KB

english, 2012

14

Contents Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

15

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development

Viringipurampeer, I. A., Ferreira, T., DeMaria, S., Yoon, J. J., Shan, X., Moosajee, M., Gregory-Evans, K., Ngai, J., Gregory-Evans, C. Y.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 563 KB

english, 2012

16

Editorial Board

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 20 KB

english, 2012

17

Cover Page

Journal:

Human Molecular Genetics

Year:

2012

File:

PDF, 1.50 MB

2012

18

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

Stochmanski, S. J., Therrien, M., Laganiere, J., Rochefort, D., Laurent, S., Karemera, L., Gaudet, R., Vyboh, K., Van Meyel, D. J., Di Cristo, G., Dion, P. A., Gaspar, C., Rouleau, G. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 446 KB

english, 2012

19

A coding variant in CR1 interacts with APOE- 4 to influence cognitive decline

Keenan, B. T., Shulman, J. M., Chibnik, L. B., Raj, T., Tran, D., Sabuncu, M. R., Allen, A. N., Corneveaux, J. J., Hardy, J. A., Huentelman, M. J., Lemere, C. A., Myers, A. J., Nicholson-Weller, A., R

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 394 KB

english, 2012

20

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

Saha, A., Sarkar, C., Singh, S. P., Zhang, Z., Munasinghe, J., Peng, S., Chandra, G., Kong, E., Mukherjee, A. B.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 470 KB

english, 2012

21

Increased mitochondrial biogenesis in muscle improves aging phenotypes in the mtDNA mutator mouse

Dillon, L. M., Williams, S. L., Hida, A., Peacock, J. D., Prolla, T. A., Lincoln, J., Moraes, C. T.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

22

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

Agrawal, P. B., Joshi, M., Savic, T., Chen, Z., Beggs, A. H.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 958 KB

english, 2012

23

Subscription Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 31 KB

english, 2012

24

OLIG2 over-expression impairs proliferation of human Down syndrome neural progenitors

Lu, J., Lian, G., Zhou, H., Esposito, G., Steardo, L., Delli-Bovi, L. C., Hecht, J. L., Lu, Q. R., Sheen, V.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 577 KB

english, 2012