Volume 24; Issue 2

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Human Molecular Genetics
Volume 24; Issue 2

Human Molecular Genetics

Volume 24; Issue 2

1

Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors

Iida, M., Katsuno, M., Nakatsuji, H., Adachi, H., Kondo, N., Miyazaki, Y., Tohnai, G., Ikenaka, K., Watanabe, H., Yamamoto, M., Kishida, K., Sobue, G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 2.70 MB

english, 2015

2

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis

Sacco, S., Giuliano, S., Sacconi, S., Desnuelle, C., Barhanin, J., Amri, E.-z., Bendahhou, S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

3

Loss of nNOS inhibits compensatory muscle hypertrophy and exacerbates inflammation and eccentric contraction-induced damage in mdx mice

Froehner, S. C., Reed, S. M., Anderson, K. N., Huang, P. L., Percival, J. M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

4

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells

Okada, M., Ikegawa, S., Morioka, M., Yamashita, A., Saito, A., Sawai, H., Murotsuki, J., Ohashi, H., Okamoto, T., Nishimura, G., Imaizumi, K., Tsumaki, N.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

5

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development

Dietz, K. N., Di Stefano, L., Maher, R. C., Zhu, H., Macdonald, M. E., Gusella, J. F., Walker, J. A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

6

Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels

Kumar, V., Gutierrez-Achury, J., Kanduri, K., Almeida, R., Hrdlickova, B., Zhernakova, D. V., Westra, H.-J., Karjalainen, J., Ricano-Ponce, I., Li, Y., Stachurska, A., Tigchelaar, E. F., Abdulahad, W.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

7

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

Fahiminiya, S., Al-Jallad, H., Majewski, J., Palomo, T., Moffatt, P., Roschger, P., Klaushofer, K., Glorieux, F. H., Rauch, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 969 KB

english, 2015

8

Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans

Li, J., Lange, L. A., Duan, Q., Lu, Y., Singleton, A. B., Zonderman, A. B., Evans, M. K., Li, Y., Taylor, H. A., Willis, M. S., Nalls, M., Wilson, J. G., Lange, E. M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 286 KB

english, 2015

9

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share

Kottyan, L. C., Zoller, E. E., Bene, J., Lu, X., Kelly, J. A., Rupert, A. M., Lessard, C. J., Vaughn, S. E., Marion, M., Weirauch, M. T., Namjou, B., Adler, A., Rasmussen, A., Glenn, S., Montgomery, C

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

10

A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease

Nath, S., Munsie, L. N., Truant, R.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.71 MB

english, 2015

11

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia

Funato, N., Nakamura, M., Richardson, J. A., Srivastava, D., Yanagisawa, H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

12

DNA methylation analysis of human myoblasts during in vitro myogenic differentiation: de novo methylation of promoters of muscle-related genes and its involvement in transcriptional down-regulation

Miyata, K., Miyata, T., Nakabayashi, K., Okamura, K., Naito, M., Kawai, T., Takada, S., Kato, K., Miyamoto, S., Hata, K., Asahara, H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

13

Comprehensive phosphoproteome analysis unravels the core signaling network that initiates the earliest synapse pathology in preclinical Alzheimer's disease brain

Tagawa, K., Homma, H., Saito, A., Fujita, K., Chen, X., Imoto, S., Oka, T., Ito, H., Motoki, K., Yoshida, C., Hatsuta, H., Murayama, S., Iwatsubo, T., Miyano, S., Okazawa, H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

14

Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses

Sipione, S., Rigamonti, D., Valenza, M., Zuccato, C., Conti, L., Pritchard, J., Kooperberg, C., Olson, J. M., Cattaneo, E.

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 44 KB

2015

15

The adipocyte differentiation protein APMAP is an endogenous suppressor of A production in the brain

Mosser, S., Alattia, J.-R., Dimitrov, M., Matz, A., Pascual, J., Schneider, B. L., Fraering, P. C.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 997 KB

english, 2015

16

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis

Cottle, D. L., Ursino, G. M. A., Ip, S. C. I., Jones, L. K., Ditommaso, T., Hacking, D. F., Mangan, N. E., Mellett, N. A., Henley, K. J., Sviridov, D., Nold-Petry, C. A., Nold, M. F., Meikle, P. J., K

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

17

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy

Hao, L. T., Duy, P. Q., Jontes, J. D., Beattie, C. E.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

18

Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Guissart, C., Li, X., Leheup, B., Drouot, N., Montaut-Verient, B., Raffo, E., Jonveaux, P., Roux, A.-F., Claustres, M., Fliegel, L., Koenig, M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 597 KB

english, 2015

19

Contents Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 42 KB

english, 2015

20

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Vaccari, I., Carbone, A., Previtali, S. C., Mironova, Y. A., Alberizzi, V., Noseda, R., Rivellini, C., Bianchi, F., Del Carro, U., D'Antonio, M., Lenk, G. M., Wrabetz, L., Giger, R. J., Meisler, M. H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.81 MB

english, 2015

21

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., Demirkol, M., Waterham, H. R., Gokcay, G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 391 KB

english, 2015

22

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

Sasarman, F., Nishimura, T., Antonicka, H., Weraarpachai, W., Shoubridge, E. A., Allen, B., Burelle, Y., Charron, G., Coderre, L., DesRosiers, C., Laprise, C., Morin, C., Rioux, J., Shoubridge, E. A.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 834 KB

english, 2015

23

Cover Page

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 441 KB

2015

24

Identification and characterization of PKC , a kinase associated with SCA14, as an amyloidogenic protein

Takahashi, H., Adachi, N., Shirafuji, T., Danno, S., Ueyama, T., Vendruscolo, M., Shuvaev, A. N., Sugimoto, T., Seki, T., Hamada, D., Irie, K., Hirai, H., Sakai, N., Saito, N.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015