Volume 17; Issue 3

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Human Molecular Genetics
Volume 17; Issue 3

Human Molecular Genetics

Volume 17; Issue 3

1

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C, Erdogan, F., Owen, M. J, Ropers, H.-H., Ullmann, R.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 357 KB

english, 2007

2

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury

Esposito, G., Imitola, J., Lu, J., De Filippis, D., Scuderi, C., Ganesh, V. S., Folkerth, R., Hecht, J., Shin, S., Iuvone, T., Chesnut, J., Steardo, L., Sheen, V.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.41 MB

english, 2007

3

Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic

Takahashi, T., Kikuchi, S., Katada, S., Nagai, Y., Nishizawa, M., Onodera, O.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 894 KB

english, 2007

4

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery

Labarque, V., Freson, K., Thys, C., Wittevrongel, C., Hoylaerts, M. F., De Vos, R., Goemans, N., Van Geet, C.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 757 KB

english, 2007

5

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells

Kandert, S., Luke, Y., Kleinhenz, T., Neumann, S., Lu, W., Jaeger, V. M., Munck, M., Wehnert, M., Muller, C. R., Zhou, Z., Noegel, A. A., Dabauvalle, M.-C., Karakesisoglou, I.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 25 KB

english, 2007

6

Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases

Tan, J. M.M., Wong, E. S.P., Kirkpatrick, D. S., Pletnikova, O., Ko, H. S., Tay, S.-P., Ho, M. W.L., Troncoso, J., Gygi, S. P., Lee, M. K., Dawson, V. L., Dawson, T. M., Lim, K.-L.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 893 KB

english, 2007

7

Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

Fava, C., Montagnana, M., Rosberg, L., Burri, P., Almgren, P., Jonsson, A., Wanby, P., Lippi, G., Minuz, P., Hulthen, L.U., Aurell, M., Melander, O.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 150 KB

english, 2007

8

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options

Senawong, T., Phuchareon, J., Ohara, O., McCormick, F., Rauen, K. A., Tetsu, O.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 932 KB

english, 2007

9

Copy-number variation in control population cohorts

Pinto, D., Marshall, C., Feuk, L., Scherer, S. W.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 131 KB

english, 2007

10

Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases

Branco, J., Al-Ramahi, I., Ukani, L., Perez, A. M., Fernandez-Funez, P., Rincon-Limas, D., Botas, J.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.56 MB

english, 2007

11

Genetic determinants of emotionality and stress response in AcB/BcA recombinant congenic mice and in silico evidence of convergence with cardiovascular candidate genes

Thifault, S., Ondrej, S., Sun, Y., Fortin, A., Skamene, E., Lalonde, R., Tremblay, J., Hamet, P.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 854 KB

english, 2007

12

Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity

Nornes, S., Newman, M., Verdile, G., Wells, S., Stoick-Cooper, C. L., Tucker, B., Frederich-Sleptsova, I., Martins, R., Lardelli, M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 337 KB

english, 2007

13

Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A

Detmer, S. A., Velde, C. V., Cleveland, D. W., Chan, D. C.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 576 KB

english, 2007

14

In vivo YY1 knockdown effects on genomic imprinting

Kim, J., Kim, J. D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 742 KB

english, 2007