Volume 17; Issue 5

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Human Molecular Genetics
Volume 17; Issue 5

Human Molecular Genetics

Volume 17; Issue 5

1

A network of dopaminergic gene variations implicated as risk factors for schizophrenia

Talkowski, M. E., Kirov, G., Bamne, M., Georgieva, L., Torres, G., Mansour, H., Chowdari, K. V., Milanova, V., Wood, J., McClain, L.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

2

SLC4A11 mutations in Fuchs endothelial corneal dystrophy

Vithana, E. N., Morgan, P. E., Ramprasad, V., Tan, D. T.H., Yong, V. H.K, Venkataraman, D., Venkatraman, A., Yam, G. H.F., Nagasamy, S., Law, R. W.K., Rajagopal, R., Pang, C. P., Kumaramanickevel, G.,

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 781 KB

english, 2007

3

A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder

Wendland, J. R., Moya, P. R., Kruse, M. R., Ren-Patterson, R. F., Jensen, C. L., Timpano, K. R., Murphy, D. L.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 4.97 MB

english, 2007

4

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

Farrington-Rock, C., Kirilova, V., Dillard-Telm, L., Borowsky, A. D., Chalk, S., Rock, M. J., Cohn, D. H., Krakow, D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1023 KB

english, 2007

5

Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease

Li, Y., Grupe, A., Rowland, C., Holmans, P., Segurado, R., Abraham, R., Jones, L., Catanese, J., Ross, D., Mayo, K., Martinez, M., Hollingworth, P., Goate, A., Cairns, N. J., Racette, B. A., Perlmutte

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 593 KB

english, 2007

6

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway

Solaz-Fuster, M. C., Gimeno-Alcaniz, J. V., Ros, S., Fernandez-Sanchez, M. E., Garcia-Fojeda, B., Garcia, O. C., Vilchez, D., Dominguez, J., Garcia-Rocha, M., Sanchez-Piris, M., Aguado, C., Knecht, E.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 659 KB

english, 2007

7

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

Al-Mahdawi, S., Pinto, R. M., Ismail, O., Varshney, D., Lymperi, S., Sandi, C., Trabzuni, D., Pook, M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 767 KB

english, 2007

8

Loss of CHK1 function impedes DNA damage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia

Guervilly, J.-H., Mace-Aime, G., Rosselli, F.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 870 KB

english, 2007

9

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people

Hewitt, A. W., Sharma, S., Burdon, K. P., Wang, J. J., Baird, P. N., Dimasi, D. P., Mackey, D. A., Mitchell, P., Craig, J. E.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 294 KB

english, 2007

10

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function

Jin, B., Tao, Q., Peng, J., Soo, H. M., Wu, W., Ying, J., Fields, C. R., Delmas, A. L., Liu, X., Qiu, J., Robertson, K. D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 2.74 MB

english, 2007

11

A genome-wide association study of sporadic ALS in a homogenous Irish population

Cronin, S., Berger, S., Ding, J., Schymick, J. C, Washecka, N., Hernandez, D. G., Greenway, M. J., Bradley, D. G., Traynor, B. J., Hardiman, O.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007