Volume 23; Issue 11

Main
Human Molecular Genetics
Volume 23; Issue 11

Human Molecular Genetics

Volume 23; Issue 11

1

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

Williams, E. C., Zhong, X., Mohamed, A., Li, R., Liu, Y., Dong, Q., Ananiev, G. E., Mok, J. C. C., Lin, B. R., Lu, J., Chiao, C., Cherney, R., Li, H., Zhang, S.-C., Chang, Q.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 788 KB

english, 2014

2

c-Abl phosphorylates -synuclein and regulates its degradation: implication for -synuclein clearance and contribution to the pathogenesis of Parkinson's disease

Mahul-Mellier, A.-L., Fauvet, B., Gysbers, A., Dikiy, I., Oueslati, A., Georgeon, S., Lamontanara, A. J., Bisquertt, A., Eliezer, D., Masliah, E., Halliday, G., Hantschel, O., Lashuel, H. A.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 2.51 MB

english, 2014

3

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

Zhang, X., Lin, H., Zhao, H., Hao, Y., Mort, M., Cooper, D. N., Zhou, Y., Liu, Y.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 631 KB

english, 2014

4

A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease

Smith, M. R., Syed, A., Lukacsovich, T., Purcell, J., Barbaro, B. A., Worthge, S. A., Wei, S. R., Pollio, G., Magnoni, L., Scali, C., Massai, L., Franceschini, D., Camarri, M., Gianfriddo, M., Diodato

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 657 KB

english, 2014

5

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes -Synuclein externalization via exosomes

Kong, S. M. Y., Chan, B. K. K., Park, J.-S., Hill, K. J., Aitken, J. B., Cottle, L., Farghaian, H., Cole, A. R., Lay, P. A., Sue, C. M., Cooper, A. A.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.70 MB

english, 2014

6

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

Dauber, A., Ercan, A., Lee, J., James, P., Jacobs, P. P., Ashline, D. J., Wang, S. R., Miller, T., Hirschhorn, J. N., Nigrovic, P. A., Sackstein, R.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 624 KB

english, 2014

7

Identification and analysis of large intergenic non-coding RNAs regulated by p53 family members through a genome-wide analysis of p53-binding sites

Idogawa, M., Ohashi, T., Sasaki, Y., Maruyama, R., Kashima, L., Suzuki, H., Tokino, T.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.62 MB

english, 2014

8

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.06 MB

english, 2014

9

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

Tsunemi, T., Krainc, D.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 761 KB

english, 2014

10

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

Bourens, M., Boulet, A., Leary, S. C., Barrientos, A.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.06 MB

english, 2014

11

Drebrin E depletion in human intestinal epithelial cells mimics Rab8a loss of function

Vacca, B., Bazellieres, E., Nouar, R., Harada, A., Massey-Harroche, D., Le Bivic, A.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

12

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Moayyeri, A., Hsu, Y.-H., Karasik, D., Estrada, K., Xiao, S.-M., Nielson, C., Srikanth, P., Giroux, S., Wilson, S. G., Zheng, H.-F., Smith, A. V., Pye, S. R., Leo, P. J., Teumer, A., Hwang, J.-Y., Ohl

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

13

Interactions between Tau and -synuclein augment neurotoxicity in a Drosophila model of Parkinson's disease

Roy, B., Jackson, G. R.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

14

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome

Yudkin, D., Hayward, B. E., Aladjem, M. I., Kumari, D., Usdin, K.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 750 KB

english, 2014

15

Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements

Mizuhashi, K., Kanamoto, T., Moriishi, T., Muranishi, Y., Miyazaki, T., Terada, K., Omori, Y., Ito, M., Komori, T., Furukawa, T.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.54 MB

english, 2014

16

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Stacey, S. N., Sulem, P., Gudbjartsson, D. F., Jonasdottir, A., Thorleifsson, G., Gudjonsson, S. A., Masson, G., Gudmundsson, J., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsso

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 250 KB

english, 2014

17

FGFR3 mutation causes abnormal membranous ossification in achondroplasia

Di Rocco, F., Biosse Duplan, M., Heuze, Y., Kaci, N., Komla-Ebri, D., Munnich, A., Mugniery, E., Benoist-Lasselin, C., Legeai-Mallet, L.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.60 MB

english, 2014

18

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

Park, J.-S., Koentjoro, B., Veivers, D., Mackay-Sim, A., Sue, C. M.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.81 MB

english, 2014

19

Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice

Warr, N., Siggers, P., Carre, G.-A., Bogani, D., Brixey, R., Akiyoshi, M., Tachibana, M., Teboul, L., Wells, S., Sanderson, J., Greenfield, A.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 881 KB

english, 2014

20

Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation

Jia, S., Muto, A., Orisme, W., Henson, H. E., Parupalli, C., Ju, B., Baier, H., Taylor, M. R.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 2.05 MB

english, 2014

21

Editorial Board

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 27 KB

english, 2014

22

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

Chen, X., Liu, Y., Sheng, X., Tam, P. O. S., Zhao, K., Chen, X., Rong, W., Liu, Y., Liu, X., Pan, X., Chen, L. J., Zhao, Q., Vollrath, D., Pang, C. P., Zhao, C.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.46 MB

english, 2014

23

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons

Aliaga, L., Lai, C., Yu, J., Chub, N., Shim, H., Sun, L., Xie, C., Yang, W.-J., Lin, X., O'Donovan, M. J., Cai, H.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 24 KB

english, 2014

24

Cover Page

Journal:

Human Molecular Genetics

Year:

2014

File:

PDF, 314 KB

2014

25

Contents Page

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 39 KB

english, 2014

26

Subscription Page

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 36 KB

english, 2014