Volume 21; Issue 23

Main
Human Molecular Genetics
Volume 21; Issue 23

Human Molecular Genetics

Volume 21; Issue 23

1

PDGF-B-mediated downregulation of miR-21: new insights into PDGF signaling in glioblastoma

Costa, P. M., Cardoso, A. L., Pereira de Almeida, L. F., Bruce, J. N., Canoll, P., Pedroso de Lima, M. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 629 KB

english, 2012

2

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice

Lu, C., Lin, L., Tan, H., Wu, H., Sherman, S. L., Gao, F., Jin, P., Chen, D.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 547 KB

english, 2012

3

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions

Diaz, F., Garcia, S., Padgett, K. R., Moraes, C. T.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 6.97 MB

english, 2012

4

Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression

Song, L., Shan, Y., Lloyd, K. C. K., Cortopassi, G. A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 569 KB

english, 2012

5

Seven newly identified loci for autoimmune thyroid disease

Cooper, J. D., Simmonds, M. J., Walker, N. M., Burren, O., Brand, O. J., Guo, H., Wallace, C., Stevens, H., Coleman, G., Franklyn, J. A., Todd, J. A., Gough, S. C. L.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 112 KB

english, 2012

6

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

Knight, J., Spain, S. L., Capon, F., Hayday, A., Nestle, F. O., Clop, A., Barker, J. N., Weale, M. E., Trembath, R. C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

7

Editorial Board

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 23 KB

english, 2012

8

Can genetic associations change with age? CFH and age-related macular degeneration

Adams, M. K. M., Simpson, J. A., Richardson, A. J., Guymer, R. H., Williamson, E., Cantsilieris, S., English, D. R., Aung, K. Z., Makeyeva, G. A., Giles, G. G., Hopper, J., Robman, L. D., Baird, P. N.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

9

Contents Page

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 32 KB

english, 2012

10

Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's disease

Manczak, M., Reddy, P. H.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

11

Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men

Jin, G., Sun, J., Kim, S.-T., Feng, J., Wang, Z., Tao, S., Chen, Z., Purcell, L., Smith, S., Isaacs, W. B., Rittmaster, R. S., Zheng, S. L., Condreay, L. D., Xu, J.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 203 KB

english, 2012

12

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Dietrich, P., Alli, S., Shanmugasundaram, R., Dragatsis, I.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 465 KB

english, 2012

13

-Synuclein levels modulate Huntington's disease in mice

Corrochano, S., Renna, M., Carter, S., Chrobot, N., Kent, R., Stewart, M., Cooper, J., Brown, S. D. M., Rubinsztein, D. C., Acevedo-Arozena, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 22 KB

english, 2012

14

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia

Shannon Weickert, C., Miranda-Angulo, A. L., Wong, J., Perlman, W. R., Ward, S. E., Radhakrishna, V., Straub, R. E., Weinberger, D. R., Kleinman, J. E.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 25 KB

english, 2012

15

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

de Nijs, L., Wolkoff, N., Coumans, B., Delgado-Escueta, A. V., Grisar, T., Lakaye, B.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 750 KB

english, 2012

16

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

van Rahden, V. A., Brand, K., Najm, J., Heeren, J., Pfeffer, S. R., Braulke, T., Kutsche, K.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

17

Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice

Dumont, M., Stack, C., Elipenahli, C., Jainuddin, S., Gerges, M., Starkova, N., Calingasan, N. Y., Yang, L., Tampellini, D., Starkov, A. A., Chan, R. B., Di Paolo, G., Pujol, A., Beal, M. F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 634 KB

english, 2012

18

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts

Tatti, M., Motta, M., Di Bartolomeo, S., Scarpa, S., Cianfanelli, V., Cecconi, F., Salvioli, R.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 708 KB

english, 2012

19

Cover Page

Journal:

Human Molecular Genetics

Year:

2012

File:

PDF, 549 KB

2012

20

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

Juran, B. D., Hirschfield, G. M., Invernizzi, P., Atkinson, E. J., Li, Y., Xie, G., Kosoy, R., Ransom, M., Sun, Y., Bianchi, I., Schlicht, E. M., Lleo, A., Coltescu, C., Bernuzzi, F., Podda, M., Lamme

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 431 KB

english, 2012

21

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

Di Gioia, S. A., Letteboer, S. J. F., Kostic, C., Bandah-Rozenfeld, D., Hetterschijt, L., Sharon, D., Arsenijevic, Y., Roepman, R., Rivolta, C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012