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Volume 24; Issue 2
Main
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2015
19
Contents Page
Journal:
Human Molecular Genetics
Year:
2015
Language:
english
File:
PDF, 42 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2015
23
Cover Page
Journal:
Human Molecular Genetics
Year:
2015
File:
PDF, 441 KB
Your tags:
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
Your tags:
english, 2015
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