Volume 19; Issue 2

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Human Molecular Genetics
Volume 19; Issue 2

Human Molecular Genetics

Volume 19; Issue 2

1

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 723 KB

2010

2

Fibroblast phenotype in male carriers of FMR1 premutation alleles

Garcia-Arocena, D., Yang, J. E., Brouwer, J. R., Tassone, F., Iwahashi, C., Berry-Kravis, E. M., Goetz, C. G., Sumis, A. M., Zhou, L., Nguyen, D. V., Campos, L., Howell, E., Ludwig, A., Greco, C., Wil

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

3

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

4

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Chang, W., Barnes, A. M., Cabral, W. A., Bodurtha, J. N., Marini, J. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 454 KB

english, 2010

5

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

Ye, M., Berry-Wynne, K. M., Asai-Coakwell, M., Sundaresan, P., Footz, T., French, C. R., Abitbol, M., Fleisch, V. C., Corbett, N., Allison, W. T., Drummond, G., Walter, M. A., Underhill, T. M., Waskie

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 583 KB

english, 2010

6

Editorial Board

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 27 KB

english, 2010

7

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins

del Castillo, F. J., Cohen-Salmon, M., Charollais, A., Caille, D., Lampe, P. D., Chavrier, P., Meda, P., Petit, C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 643 KB

english, 2010

8

PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an N -dimethyl lysine demethylase

Loenarz, C., Ge, W., Coleman, M. L., Rose, N. R., Cooper, C. D.O., Klose, R. J., Ratcliffe, P. J., Schofield, C. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 200 KB

english, 2010

9

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

D'Aurelio, M., Vives-Bauza, C., Davidson, M.M., Manfredi, G.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 529 KB

english, 2010

10

The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development

Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.-L., Salomoni, P., Gottlob, I., Nicotera, P.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 458 KB

english, 2010

11

Proteotoxic stress increases nuclear localization of ataxin-3

Reina, C. P., Zhong, X., Pittman, R. N.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 595 KB

english, 2010

12

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos

Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., Herman, G. E.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 354 KB

english, 2010

13

Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms

van der Harst, P., Bakker, S. J.L., de Boer, R. A., Wolffenbuttel, B. H.R., Johnson, T., Caulfield, M. J., Navis, G.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 197 KB

english, 2010

14

Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF- B signaling

Sha, D., Chin, L.-S., Li, L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 482 KB

english, 2010