Volume 17; Issue 21

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Human Molecular Genetics
Volume 17; Issue 21

Human Molecular Genetics

Volume 17; Issue 21

1

Synergistic activation of the human MnSOD promoter by DJ-1 and PGC-1 : regulation by SUMOylation and oxidation

Zhong, N., Xu, J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 588 KB

english, 2008

2

Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development

Pispa, J., Pummila, M., Barker, P. A., Thesleff, I., Mikkola, M. L.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.03 MB

english, 2008

3

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Robertson, N. G., Jones, S. M., Sivakumaran, T. A., Giersch, A. B.S., Jurado, S. A., Call, L. M., Miller, C. E., Maison, S. F., Liberman, M. C., Morton, C. C.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

4

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

Cronin, S., Blauw, H. M., Veldink, J. H., van Es, M. A., Ophoff, R. A., Bradley, D. G., van den Berg, L. H., Hardiman, O.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

5

Subscription Page

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 30 KB

english, 2008

6

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities

Yu, Y., Chu, P.-Y., Bowser, D. N., Keating, D. J., Dubach, D., Harper, I., Tkalcevic, J., Finkelstein, D. I., Pritchard, M. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 573 KB

english, 2008

7

Cover Page

Journal:

Human Molecular Genetics

Year:

2008

File:

PDF, 1.48 MB

2008

8

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

Jiang, S.-T., Chiou, Y.-Y., Wang, E., Lin, H.-K., Lee, S.-P., Lu, H.-Y., Wang, C.-K. L., Tang, M.-J., Li, H.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 2.01 MB

english, 2008

9

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

Thomas, S., Thomas, M., Wincker, P., Babarit, C., Xu, P., Speer, M. C., Munnich, A., Lyonnet, S., Vekemans, M., Etchevers, H. C.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.44 MB

english, 2008

10

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

Walker, M. P., Rajendra, T.K., Saieva, L., Fuentes, J. L., Pellizzoni, L., Matera, A. G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.54 MB

english, 2008

11

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M. G., Osterziel, K. J., Bublak, A., Nagele, H., Scheffold, T., Di

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 21 KB

english, 2008

12

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

Chan, C.-H., Mitchison, H. M., Pearce, D. A.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 318 KB

english, 2008

13

Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear

Zou, D., Erickson, C., Kim, E.-H., Jin, D., Fritzsch, B., Xu, P.-X.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.61 MB

english, 2008

14

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice

Lloyd, D. J., Bohan, S., Gekakis, N.

Journal:

Human Molecular Genetics

Year:

2008

File:

PDF, 194 KB

2008

15

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria

Kawamata, H., Manfredi, G.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 998 KB

english, 2008

16

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle

Kramerova, I., Kudryashova, E., Wu, B., Ottenheijm, C., Granzier, H., Spencer, M. J.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 651 KB

english, 2008

17

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

Spinazzi, M., Cazzola, S., Bortolozzi, M., Baracca, A., Loro, E., Casarin, A., Solaini, G., Sgarbi, G., Casalena, G., Cenacchi, G., Malena, A., Frezza, C., Carrara, F., Angelini, C., Scorrano, L., Sal

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 862 KB

english, 2008

18

A high-density association screen of 155 ion transport genes for involvement with common migraine

Nyholt, D. R., LaForge, K. S., Kallela, M., Alakurtti, K., Anttila, V., Farkkila, M., Hamalainen, E., Kaprio, J., Kaunisto, M. A., Heath, A. C., Montgomery, G. W., Gobel, H., Todt, U., Ferrari, M. D.,

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

19

Editorial Board

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 26 KB

english, 2008