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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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2014
21
Editorial Board
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 27 KB
Your tags:
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
Your tags:
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
Your tags:
english, 2014
24
Cover Page
Journal:
Human Molecular Genetics
Year:
2014
File:
PDF, 314 KB
Your tags:
2014
25
Contents Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2014
26
Subscription Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 36 KB
Your tags:
english, 2014
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