Volume 18; Issue 7

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Human Molecular Genetics
Volume 18; Issue 7

Human Molecular Genetics

Volume 18; Issue 7

1

Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients

Flanagan, J. M., Munoz-Alegre, M., Henderson, S., Tang, T., Sun, P., Johnson, N., Fletcher, O., dos Santos Silva, I., Peto, J., Boshoff, C., Narod, S., Petronis, A.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 415 KB

english, 2009

2

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

Bian, Y., Masuda, A., Matsuura, T., Ito, M., Okushin, K., Engel, A. G., Ohno, K.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

3

The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1

Zhang, P., Luo, Y., Chasan, B., Gonzalez-Perrett, S., Montalbetti, N., Timpanaro, G. A., Cantero, M. d. R., Ramos, A. J., Goldmann, W. H., Zhou, J., Cantiello, H. F.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 756 KB

english, 2009

4

Subscription Page

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

5

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy

Renvoise, B., Colasse, S., Burlet, P., Viollet, L., Meier, U. T., Lefebvre, S.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 345 KB

english, 2009

6

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

Guenther, U.-P., Handoko, L., Laggerbauer, B., Jablonka, S., Chari, A., Alzheimer, M., Ohmer, J., Plottner, O., Gehring, N., Sickmann, A., von Au, K., Schuelke, M., Fischer, U.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 494 KB

english, 2009

7

Contents Page

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 35 KB

english, 2009

8

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

Heier, C. R., DiDonato, C. J.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009

9

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

Landsverk, M. L., Ruzzo, E. K., Mefford, H. C., Buysse, K., Buchan, J. G., Eichler, E. E., Petty, E. M., Peterson, E. A., Knutzen, D. M., Barnett, K., Farlow, M. R., Caress, J., Parry, G. J., Quan, D.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 391 KB

english, 2009

10

Cover Page

Journal:

Human Molecular Genetics

Year:

2009

File:

PDF, 406 KB

2009

11

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Seo, S., Guo, D.-F., Bugge, K., Morgan, D. A., Rahmouni, K., Sheffield, V. C.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 434 KB

english, 2009

12

Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk

Chang, B.-L., Cramer, S. D., Wiklund, F., Isaacs, S. D., Stevens, V. L., Sun, J., Smith, S., Pruett, K., Romero, L. M., Wiley, K. E., Kim, S.-T., Zhu, Y., Zhang, Z., Hsu, F.-C., Turner, A. R., Adolfss

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 248 KB

english, 2009

13

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer

Medina, P. P., Castillo, S. D., Blanco, S., Sanz-Garcia, M., Largo, C., Alvarez, S., Yokota, J., Gonzalez-Neira, A., Benitez, J., Clevers, H. C., Cigudosa, J. C., Lazo, P. A., Sanchez-Cespedes, M.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 425 KB

english, 2009

14

Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes

Georgiou, I., Noutsopoulos, D., Dimitriadou, E., Markopoulos, G., Apergi, A., Lazaros, L., Vaxevanoglou, T., Pantos, K., Syrrou, M., Tzavaras, T.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

15

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component

Kudryashova, E., Wu, J., Havton, L. A., Spencer, M. J.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 794 KB

english, 2009

16

Suppression of GFAP toxicity by B-crystallin in mouse models of Alexander disease

Hagemann, T. L., Boelens, W. C., Wawrousek, E. F., Messing, A.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 462 KB

english, 2009

17

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

Way, S. W., McKenna, J., Mietzsch, U., Reith, R. M., Wu, H. C.-j., Gambello, M. J.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 978 KB

english, 2009

18

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system

Footz, T. K., Johnson, J. L., Dubois, S., Boivin, N., Raymond, V., Walter, M. A.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 608 KB

english, 2009

19

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death

Samardzija, M., Tanimoto, N., Kostic, C., Beck, S., Oberhauser, V., Joly, S., Thiersch, M., Fahl, E., Arsenijevic, Y., von Lintig, J., Wenzel, A., Seeliger, M. W., Grimm, C.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 500 KB

english, 2009