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Volume 23; Issue 21
Main
Human Molecular Genetics
Volume 23; Issue 21
Human Molecular Genetics
Volume 23; Issue 21
1
The chaperone-like protein 14-3-3 interacts with human -synuclein aggregation intermediates rerouting the amyloidogenic pathway and reducing -synuclein cellular toxicity
Plotegher, N.
,
Kumar, D.
,
Tessari, I.
,
Brucale, M.
,
Munari, F.
,
Tosatto, L.
,
Belluzzi, E.
,
Greggio, E.
,
Bisaglia, M.
,
Capaldi, S.
,
Aioanei, D.
,
Mammi, S.
,
Monaco, H. L.
,
Samo, B.
,
Bubacco, L.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2014
2
Latent TGF- binding protein-2 is essential for the development of ciliary zonule microfibrils
Inoue, T.
,
Ohbayashi, T.
,
Fujikawa, Y.
,
Yoshida, H.
,
Akama, T. O.
,
Noda, K.
,
Horiguchi, M.
,
Kameyama, K.
,
Hata, Y.
,
Takahashi, K.
,
Kusumoto, K.
,
Nakamura, T.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 758 KB
Your tags:
english, 2014
3
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy
Theis, J. L.
,
Zimmermann, M. T.
,
Larsen, B. T.
,
Rybakova, I. N.
,
Long, P. A.
,
Evans, J. M.
,
Middha, S.
,
de Andrade, M.
,
Moss, R. L.
,
Wieben, E. D.
,
Michels, V. V.
,
Olson, T. M.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 2014
4
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Ratnapriya, R.
,
Zhan, X.
,
Fariss, R. N.
,
Branham, K. E.
,
Zipprer, D.
,
Chakarova, C. F.
,
Sergeev, Y. V.
,
Campos, M. M.
,
Othman, M.
,
Friedman, J. S.
,
Maminishkis, A.
,
Waseem, N. H.
,
Brooks, M.
,
Rajasimh
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 560 KB
Your tags:
english, 2014
5
Gene expression in mdx mouse muscle in relation to age and exercise: aberrant mechanical-metabolic coupling and implications for pre-clinical studies in Duchenne muscular dystrophy
Camerino, G. M.
,
Cannone, M.
,
Giustino, A.
,
Massari, A. M.
,
Capogrosso, R. F.
,
Cozzoli, A.
,
De Luca, A.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 599 KB
Your tags:
english, 2014
6
Genetic dissection reveals that Akt is the critical kinase downstream of LRRK2 to phosphorylate and inhibit FOXO1, and promotes neuron survival
Chuang, C.-L.
,
Lu, Y.-N.
,
Wang, H.-C.
,
Chang, H.-Y.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 2014
7
Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes
Sharoyko, V. V.
,
Abels, M.
,
Sun, J.
,
Nicholas, L. M.
,
Mollet, I. G.
,
Stamenkovic, J. A.
,
Gohring, I.
,
Malmgren, S.
,
Storm, P.
,
Fadista, J.
,
Spegel, P.
,
Metodiev, M. D.
,
Larsson, N.-G.
,
Eliasson, L.
,
W
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.80 MB
Your tags:
english, 2014
8
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria
ben Bdira, F.
,
Gonzalez, E.
,
Pluta, P.
,
Lain, A.
,
Sanz-Parra, A.
,
Falcon-Perez, J. M.
,
Millet, O.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 826 KB
Your tags:
english, 2014
9
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins
Motta, M.
,
Camerini, S.
,
Tatti, M.
,
Casella, M.
,
Torreri, P.
,
Crescenzi, M.
,
Tartaglia, M.
,
Salvioli, R.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 2014
10
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
Xie, Y.
,
Lee, W.
,
Cai, C.
,
Gambin, T.
,
Noupuu, K.
,
Sujirakul, T.
,
Ayuso, C.
,
Jhangiani, S.
,
Muzny, D.
,
Boerwinkle, E.
,
Gibbs, R.
,
Greenstein, V. C.
,
Lupski, J. R.
,
Tsang, S. H.
,
Allikmets, R.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 9.45 MB
Your tags:
english, 2014
11
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation
Hasumi, Y.
,
Baba, M.
,
Hasumi, H.
,
Huang, Y.
,
Lang, M.
,
Reindorf, R.
,
Oh, H.-b.
,
Sciarretta, S.
,
Nagashima, K.
,
Haines, D. C.
,
Schneider, M. D.
,
Adelstein, R. S.
,
Schmidt, L. S.
,
Sadoshima, J.
,
Marston
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 6.00 MB
Your tags:
english, 2014
12
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A
Zhu, P.-P.
,
Denton, K. R.
,
Pierson, T. M.
,
Li, X.-J.
,
Blackstone, C.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 15.13 MB
Your tags:
english, 2014
13
Coding variants in TREM2 increase risk for Alzheimer's disease
Jin, S. C.
,
Benitez, B. A.
,
Karch, C. M.
,
Cooper, B.
,
Skorupa, T.
,
Carrell, D.
,
Norton, J. B.
,
Hsu, S.
,
Harari, O.
,
Cai, Y.
,
Bertelsen, S.
,
Goate, A. M.
,
Cruchaga, C.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 361 KB
Your tags:
english, 2014
14
Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene
Visser, M.
,
Palstra, R.-J.
,
Kayser, M.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 828 KB
Your tags:
english, 2014
15
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
Abi Habib, W.
,
Azzi, S.
,
Brioude, F.
,
Steunou, V.
,
Thibaud, N.
,
Neves, C. D.
,
Le Jule, M.
,
Chantot-Bastaraud, S.
,
Keren, B.
,
Lyonnet, S.
,
Michot, C.
,
Rossi, M.
,
Pasquier, L.
,
Gicquel, C.
,
Rossignol, S
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.18 MB
Your tags:
english, 2014
16
Subscription Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2014
17
Cover Page
Journal:
Human Molecular Genetics
Year:
2014
File:
PDF, 178 KB
Your tags:
2014
18
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
Di Costanzo, S.
,
Balasubramanian, A.
,
Pond, H. L.
,
Rozkalne, A.
,
Pantaleoni, C.
,
Saredi, S.
,
Gupta, V. A.
,
Sunu, C. M.
,
Yu, T. W.
,
Kang, P. B.
,
Salih, M. A.
,
Mora, M.
,
Gussoni, E.
,
Walsh, C. A.
,
Manzi
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 12.21 MB
Your tags:
english, 2014
19
Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses
Ried, J. S.
,
Shin, S.-Y.
,
Krumsiek, J.
,
Illig, T.
,
Theis, F. J.
,
Spector, T. D.
,
Adamski, J.
,
Wichmann, H.- E.
,
Strauch, K.
,
Soranzo, N.
,
Suhre, K.
,
Gieger, C.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 3.75 MB
Your tags:
english, 2014
20
Editorial Board
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 24 KB
Your tags:
english, 2014
21
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription
Neben, C. L.
,
Idoni, B.
,
Salva, J. E.
,
Tuzon, C. T.
,
Rice, J. C.
,
Krakow, D.
,
Merrill, A. E.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 14.54 MB
Your tags:
english, 2014
22
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients
Xi, Z.
,
Rainero, I.
,
Rubino, E.
,
Pinessi, L.
,
Bruni, A. C.
,
Maletta, R. G.
,
Nacmias, B.
,
Sorbi, S.
,
Galimberti, D.
,
Surace, E. I.
,
Zheng, Y.
,
Moreno, D.
,
Sato, C.
,
Liang, Y.
,
Zhou, Y.
,
Robertson, J.
,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 2014
23
Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders
Ji, B.
,
Higa, K. K.
,
Kim, M.
,
Zhou, L.
,
Young, J. W.
,
Geyer, M. A.
,
Zhou, X.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 10.74 MB
Your tags:
english, 2014
24
Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome
Yu, Y.-R.
,
You, L.-R.
,
Yan, Y.-T.
,
Chen, C.-M.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 28.67 MB
Your tags:
english, 2014
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