Volume 16; Issue 20

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Human Molecular Genetics
Volume 16; Issue 20

Human Molecular Genetics

Volume 16; Issue 20

1

The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons

Janssen, G. M.C., Hensbergen, P. J., van Bussel, F. J., Balog, C. I.A., Maassen, J. A., Deelder, A. M., Raap, A. K.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 426 KB

english, 2007

2

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

Fu, L., Garland, D., Yang, Z., Shukla, D., Rajendran, A., Pearson, E., Stone, E. M., Zhang, K., Pierce, E. A.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.74 MB

english, 2007

3

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Gregory-Evans, C. Y., Moosajee, M., Hodges, M. D., Mackay, D. S., Game, L., Vargesson, N., Bloch-Zupan, A., Ruschendorf, F., Santos-Pinto, L., Wackens, G., Gregory-Evans, K.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 714 KB

english, 2007

4

Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation

Peng, G.-H., Chen, S.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.50 MB

english, 2007

5

Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage

Stichel, C. C., Zhu, X.-R., Bader, V., Linnartz, B., Schmidt, S., Lubbert, H.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.59 MB

english, 2007

6

Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments

Palo, O. M., Antila, M., Silander, K., Hennah, W., Kilpinen, H., Soronen, P., Tuulio-Henriksson, A., Kieseppa, T., Partonen, T., Lonnqvist, J., Peltonen, L., Paunio, T.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

7

Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration

Marmorstein, L. Y., McLaughlin, P. J., Peachey, N. S., Sasaki, T., Marmorstein, A. D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 983 KB

english, 2007