Volume 16; Issue 17

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Human Molecular Genetics
Volume 16; Issue 17

Human Molecular Genetics

Volume 16; Issue 17

1

A stop codon mutation in SCN9A causes lack of pain sensation

Ahmad, S., Dahllund, L., Eriksson, A. B., Hellgren, D., Karlsson, U., Lund, P.-E., Meijer, I. A., Meury, L., Mills, T., Moody, A., Morinville, A., Morten, J., O'Donnell, D., Raynoschek, C., Salter, H.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 477 KB

english, 2007

2

Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses

Besson, V., Brault, V., Duchon, A., Togbe, D., Bizot, J.-C., Quesniaux, V. F.J., Ryffel, B., Herault, Y.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 780 KB

english, 2007

3

Rapid evolution of primate ESX1, an X-linked placenta- and testis-expressed homeobox gene

Wang, X., Zhang, J.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 437 KB

english, 2007

4

Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes

Thompson, C. L., Klein, B. E.K., Klein, R., Xu, Z., Capriotti, J., Joshi, T., Leontiev, D., Lee, K. E., Elston, R. C., Iyengar, S. K.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 475 KB

english, 2007

5

The molecular basis of Pallister Hall associated polydactyly

Hill, P., Wang, B., Ruther, U.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 473 KB

english, 2007

6

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

Pirog-Garcia, K. A., Meadows, R. S., Knowles, L., Heinegard, D., Thornton, D. J., Kadler, K. E., Boot-Handford, R. P., Briggs, M. D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 2.36 MB

english, 2007

7

The coding polymorphism T263I in TGF- 1 is associated with otosclerosis in two independent populations

Thys, M., Schrauwen, I., Vanderstraeten, K., Janssens, K., Dieltjens, N., Van Den Bogaert, K., Fransen, E., Chen, W., Ealy, M., Claustres, M., Cremers, C. R.W.J., Dhooge, I., Declau, F., Claes, J., Va

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 211 KB

english, 2007

8

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination

Cheishvili, D., Maayan, C., Smith, Y., Ast, G., Razin, A.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 393 KB

english, 2007

9

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1

Goold, R., Hubank, M., Hunt, A., Holton, J., Menon, R. P., Revesz, T., Pandolfo, M., Matilla-Duenas, A.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 849 KB

english, 2007

10

Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells

Hasegawa, A., van der Bliek, A. M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 787 KB

english, 2007

11

Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation

Luzon-Toro, B., de la Torre, E. R., Delgado, A., Perez-Tur, J., Hilfiker, S.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 531 KB

english, 2007

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