Volume 24; Issue 9

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Human Molecular Genetics
Volume 24; Issue 9

Human Molecular Genetics

Volume 24; Issue 9

1

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Spinazzola, J. M., Smith, T. C., Liu, M., Luna, E. J., Barton, E. R.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 570 KB

english, 2015

2

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Grati, M., Chakchouk, I., Ma, Q., Bensaid, M., Desmidt, A., Turki, N., Yan, D., Baanannou, A., Mittal, R., Driss, N., Blanton, S., Farooq, A., Lu, Z., Liu, X. Z., Masmoudi, S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 838 KB

english, 2015

3

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Elsayed, S. M., Phillips, J. B., Heller, R., Thoenes, M., Elsobky, E., Nurnberg, G., Nurnberg, P., Seland, S., Ebermann, I., Altmuller, J., Thiele, H., Toliat, M., Korber, F., Hu, X.-J., Wu, Y.-D., Za

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 712 KB

english, 2015

4

The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathway

Gao, F., Chen, D., Si, J., Hu, Q., Qin, Z., Fang, M., Wang, G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 3.60 MB

english, 2015

5

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

Biagioli, M., Ferrari, F., Mendenhall, E. M., Zhang, Y., Erdin, S., Vijayvargia, R., Vallabh, S. M., Solomos, N., Manavalan, P., Ragavendran, A., Ozsolak, F., Lee, J. M., Talkowski, M. E., Gusella, J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 16.51 MB

english, 2015

6

An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model

Van Overbeke, W., Wongsantichon, J., Everaert, I., Verhelle, A., Zwaenepoel, O., Loonchanta, A., Burtnick, L. D., De Ganck, A., Hochepied, T., Haigh, J., Cuvelier, C., Derave, W., Robinson, R. C., Get

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 829 KB

english, 2015

7

miRNA-558 promotes tumorigenesis and aggressiveness of neuroblastoma cells through activating the transcription of heparanase

Qu, H., Zheng, L., Pu, J., Mei, H., Xiang, X., Zhao, X., Li, D., Li, S., Mao, L., Huang, K., Tong, Q.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

8

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Palandri, A., L'hote, D., Cohen-Tannoudji, J., Tricoire, H., Monnier, V.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 713 KB

english, 2015

9

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

Tao, Z., Wang, H., Xia, Q., Li, K., Li, K., Jiang, X., Xu, G., Wang, G., Ying, Z.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.97 MB

english, 2015

10

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

Zonta, F., Girotto, G., Buratto, D., Crispino, G., Morgan, A., Abdulhadi, K., Alkowari, M., Badii, R., Gasparini, P., Mammano, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 376 KB

english, 2015

11

Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration

Kevany, B. M., Zhang, N., Jastrzebska, B., Palczewski, K.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

12

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

Springelkamp, H., Iglesias, A. I., Cuellar-Partida, G., Amin, N., Burdon, K. P., van Leeuwen, E. M., Gharahkhani, P., Mishra, A., van der Lee, S. J., Hewitt, A. W., Rivadeneira, F., Viswanathan, A. C.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 451 KB

english, 2015

13

FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation

Karolak, M. R., Yang, X., Elefteriou, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

14

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Pitcher, M. R., Herrera, J. A., Buffington, S. A., Kochukov, M. Y., Merritt, J. K., Fisher, A. R., Schanen, N. C., Costa-Mattioli, M., Neul, J. L.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 621 KB

english, 2015

15

A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity

Chen, D., Gaborieau, V., Zhao, Y., Chabrier, A., Wang, H., Waterboer, T., Zaridze, D., Lissowska, J., Rudnai, P., Fabianova, E., Bencko, V., Janout, V., Foretova, L., Mates, I. N., Szeszenia-Dabrowska

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 351 KB

english, 2015

16

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits

Aharony, I., Ehrnhoefer, D. E., Shruster, A., Qiu, X., Franciosi, S., Hayden, M. R., Offen, D.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 713 KB

english, 2015

17

Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter

Visser, M., Palstra, R.-J., Kayser, M.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 786 KB

english, 2015

18

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking

Yi, L., Kaler, S. G.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.85 MB

english, 2015

19

Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy

Pettinati, I., Brem, J., McDonough, M. A., Schofield, C. J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

20

ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1

Gilpin, K. M., Chang, L., Monteiro, M. J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1005 KB

english, 2015

21

Common polymorphisms in WNT10A affect tooth morphology as well as hair shape

Kimura, R., Watanabe, C., Kawaguchi, A., Kim, Y.-I., Park, S.-B., Maki, K., Ishida, H., Yamaguchi, T.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 326 KB

english, 2015

22

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon

Magnani, D., Morle, L., Hasenpusch-Theil, K., Paschaki, M., Jacoby, M., Schurmans, S., Durand, B., Theil, T.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.68 MB

english, 2015

23

Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis

Hromatka, B. S., Tung, J. Y., Kiefer, A. K., Do, C. B., Hinds, D. A., Eriksson, N.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 232 KB

english, 2015

24

Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease

Jin, J., Peng, Q., Hou, Z., Jiang, M., Wang, X., Langseth, A. J., Tao, M., Barker, P. B., Mori, S., Bergles, D. E., Ross, C. A., Detloff, P. J., Zhang, J., Duan, W.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.81 MB

english, 2015

25

Subscription Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 33 KB

english, 2015

26

Editorial Board

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 24 KB

english, 2015

27

Cover Page

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 189 KB

2015

28

Contents Page

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 28 KB

english, 2015

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