Volume 19; Issue 10

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Human Molecular Genetics
Volume 19; Issue 10

Human Molecular Genetics

Volume 19; Issue 10

1

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

Bena, F., Gimelli, S., Migliavacca, E., Brun-Druc, N., Buiting, K., Antonarakis, S. E., Sharp, A. J.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

2

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

Wang, K., Baldassano, R., Zhang, H., Qu, H. Q., Imielinski, M., Kugathasan, S., Annese, V., Dubinsky, M., Rotter, J. I., Russell, R. K., Bradfield, J. P., Sleiman, P. M. A., Glessner, J. T., Walters,

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 167 KB

english, 2010

3

Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk

Reynolds, C. A., Hong, M. G., Eriksson, U. K., Blennow, K., Wiklund, F., Johansson, B., Malmberg, B., Berg, S., Alexeyenko, A., Gronberg, H., Gatz, M., Pedersen, N. L., Prince, J. A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

4

Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults

Lange, L. A., Croteau-Chonka, D. C., Marvelle, A. F., Qin, L., Gaulton, K. J., Kuzawa, C. W., McDade, T. W., Wang, Y., Li, Y., Levy, S., Borja, J. B., Lange, E. M., Adair, L. S., Mohlke, K. L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

5

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

Du, F., Ozdowski, E. F., Kotowski, I. K., Marchuk, D. A., Sherwood, N. T.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 552 KB

english, 2010

6

Cover Page

Journal:

Human Molecular Genetics

Year:

2010

File:

PDF, 471 KB

2010

7

An ovine transgenic Huntington's disease model

Jacobsen, J. C., Bawden, C. S., Rudiger, S. R., McLaughlan, C. J., Reid, S. J., Waldvogel, H. J., MacDonald, M. E., Gusella, J. F., Walker, S. K., Kelly, J. M., Webb, G. C., Faull, R. L. M., Rees, M.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 423 KB

english, 2010

8

Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK

Fogarty, M. P., Xiao, R., Prokunina-Olsson, L., Scott, L. J., Mohlke, K. L.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 395 KB

english, 2010

9

Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice

Cao, J., Gong, L., Guo, D. c., Mietzsch, U., Kuang, S. Q., Kwartler, C. S., Safi, H., Estrera, A., Gambello, M. J., Milewicz, D. M.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 671 KB

english, 2010

10

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Lostal, W., Bartoli, M., Bourg, N., Roudaut, C., Bentaib, A., Miyake, K., Guerchet, N., Fougerousse, F., McNeil, P., Richard, I.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 469 KB

english, 2010

11

Ketogenic diet slows down mitochondrial myopathy progression in mice

Ahola-Erkkila, S., Carroll, C. J., Peltola-Mjosund, K., Tulkki, V., Mattila, I., Seppanen-Laakso, T., Oresic, M., Tyynismaa, H., Suomalainen, A.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

12

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

Fourcade, S., Ruiz, M., Guilera, C., Hahnen, E., Brichta, L., Naudi, A., Portero-Otin, M., Dacremont, G., Cartier, N., Wanders, R., Kemp, S., Mandel, J. L., Wirth, B., Pamplona, R., Aubourg, P., Pujol

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 329 KB

english, 2010

13

The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal -actin mRNA translocation in spinal motor neurons

Glinka, M., Herrmann, T., Funk, N., Havlicek, S., Rossoll, W., Winkler, C., Sendtner, M.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 668 KB

english, 2010

14

A DNA damage-activated checkpoint kinase phosphorylates tau and enhances tau-induced neurodegeneration

Iijima-Ando, K., Zhao, L., Gatt, A., Shenton, C., Iijima, K.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 366 KB

english, 2010

15

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Bowl, M. R., Mirczuk, S. M., Grigorieva, I. V., Piret, S. E., Cranston, T., Southam, L., Allgrove, J., Bahl, S., Brain, C., Loughlin, J., Mughal, Z., Ryan, F., Shaw, N., Thakker, Y. V., Tiosano, D., N

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 462 KB

english, 2010

16

Contents Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

17

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Zaucke, F., Boehnlein, J. M., Steffens, S., Polishchuk, R. S., Rampoldi, L., Fischer, A., Pasch, A., Boehm, C. W. A., Baasner, A., Attanasio, M., Hoppe, B., Hopfer, H., Beck, B. B., Sayer, J. A., Hild

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 432 KB

english, 2010

18

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Simon, D., Laloo, B., Barillot, M., Barnetche, T., Blanchard, C., Rooryck, C., Marche, M., Burgelin, I., Coupry, I., Chassaing, N., Gilbert-Dussardier, B., Lacombe, D., Grosset, C., Arveiler, B.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 533 KB

english, 2010

19

Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects

Cristini, S., Navone, S., Canzi, L., Acerbi, F., Ciusani, E., Hladnik, U., de Gemmis, P., Alessandri, G., Colombo, A., Parati, E., Invernici, G.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 425 KB

english, 2010

20

Subscription Page

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

21

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Lesage, S., Patin, E., Condroyer, C., Leutenegger, A. L., Lohmann, E., Giladi, N., Bar-Shira, A., Belarbi, S., Hecham, N., Pollak, P., Ouvrard-Hernandez, A. M., Bardien, S., Carr, J., Benhassine, T.,

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

22

Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count

Okada, Y., Kamatani, Y., Takahashi, A., Matsuda, K., Hosono, N., Ohmiya, H., Daigo, Y., Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 258 KB

english, 2010

23

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

Gersting, S. W., Lagler, F. B., Eichinger, A., Kemter, K. F., Danecka, M. K., Messing, D. D., Staudigl, M., Domdey, K. A., Zsifkovits, C., Fingerhut, R., Glossmann, H., Roscher, A. A., Muntau, A. C.

Journal:

Human Molecular Genetics

Year:

2010

Language:

english

File:

PDF, 427 KB

english, 2010