Volume 16; Issue 23

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Human Molecular Genetics
Volume 16; Issue 23

Human Molecular Genetics

Volume 16; Issue 23

1

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

Martin, M. S., Tang, B., Papale, L. A., Yu, F. H., Catterall, W. A., Escayg, A.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 454 KB

english, 2007

2

Paraquat induces dopaminergic dysfunction and proteasome impairment in DJ-1-deficient mice

Yang, W., Chen, L., Ding, Y., Zhuang, X., Kang, U. J.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 703 KB

english, 2007

3

Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy

Ferguson, K. A., Wong, E. C., Chow, V., Nigro, M., Ma, S.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 267 KB

english, 2007

4

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Schroder, R., Goudeau, B., Simon, M. C., Fischer, D., Eggermann, T., Clemen, C. S., Li, Z., Reimann, J., Xue, Z., Rudnik-Schoneborn, S., Zerres, K., van der Ven, P. F. M., Furst, D. O., Kunz, W. S., V

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

5

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

de Smith, A. J., Tsalenko, A., Sampas, N., Scheffer, A., Yamada, N. A., Tsang, P., Ben-Dor, A., Yakhini, Z., Ellis, R. J., Bruhn, L., Laderman, S., Froguel, P., Blakemore, A. I.F.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 627 KB

english, 2007

6

Adipose tissue mass is modulated by SLUG (SNAI2)

Perez-Mancera, P. A., Bermejo-Rodriguez, C., Gonzalez-Herrero, I., Herranz, M., Flores, T., Jimenez, R., Sanchez-Garcia, I.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.15 MB

english, 2007

7

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, 1.53 MB

english, 2007

8

Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms

Hishimoto, A., Liu, Q.-R., Drgon, T., Pletnikova, O., Walther, D., Zhu, X.-G., Troncoso, J. C., Uhl, G. R.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 390 KB

english, 2007

9

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Zhang, Q., Bethmann, C., Worth, N. F., Davies, J. D., Wasner, C., Feuer, A., Ragnauth, C. D., Yi, Q., Mellad, J. A., Warren, D. T., Wheeler, M. A., Ellis, J. A., Skepper, J. N., Vorgerd, M., Schlotter

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 1.37 MB

english, 2007

10

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

Thierbach, R., Schulz, T. J., Isken, F., Voigt, A., Mietzner, B., Drewes, G., von Kleist-Retzow, J.-C., Wiesner, R. J., Magnuson, M. A., Puccio, H., Pfeiffer, A. F.H., Steinberg, P., Ristow, M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 22 KB

english, 2007

11

7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1

Mathew, S. V., Law, A. J., Lipska, B. K., Davila-Garcia, M. I., Zamora, E. D., Mitkus, S. N., Vakkalanka, R., Straub, R. E., Weinberger, D. R., Kleinman, J. E., Hyde, T. M.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 429 KB

english, 2007

12

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti

Sebban-Benin, H., Pescatore, A., Fusco, F., Pascuale, V., Gautheron, J., Yamaoka, S., Moncla, A., Ursini, M. V., Courtois, G.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 563 KB

english, 2007

13

Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

Ottolenghi, C., Pelosi, E., Tran, J., Colombino, M., Douglass, E., Nedorezov, T., Cao, A., Forabosco, A., Schlessinger, D.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 715 KB

english, 2007

14

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1

Hino, S.-i., Kondo, S., Sekiya, H., Saito, A., Kanemoto, S., Murakami, T., Chihara, K., Aoki, Y., Nakamori, M., Takahashi, M. P., Imaizumi, K.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 707 KB

english, 2007

15

Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples

Yang, B.-Z., Kranzler, H. R., Zhao, H., Gruen, J. R., Luo, X., Gelernter, J.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 674 KB

english, 2007

16

Distal axonopathy in an alsin-deficient mouse model

Deng, H.-X., Zhai, H., Fu, R., Shi, Y., Gorrie, G. H., Yang, Y., Liu, E., Dal Canto, M. C., Mugnaini, E., Siddique, T.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 814 KB

english, 2007

17

Genetic association of CTNNA3 with late-onset Alzheimer's disease in females

Miyashita, A., Arai, H., Asada, T., Imagawa, M., Matsubara, E., Shoji, M., Higuchi, S., Urakami, K., Kakita, A., Takahashi, H., Toyabe, S., Akazawa, K., Kanazawa, I., Ihara, Y., Kuwano, R.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 667 KB

english, 2007