books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 22; Issue 20
Main
Human Molecular Genetics
Volume 22; Issue 20
Human Molecular Genetics
Volume 22; Issue 20
1
Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls
Nickles, D.
,
Chen, H. P.
,
Li, M. M.
,
Khankhanian, P.
,
Madireddy, L.
,
Caillier, S. J.
,
Santaniello, A.
,
Cree, B. A. C.
,
Pelletier, D.
,
Hauser, S. L.
,
Oksenberg, J. R.
,
Baranzini, S. E.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 921 KB
Your tags:
english, 2013
2
The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex
Cardenas-Rodriguez, M.
,
Irigoin, F.
,
Osborn, D. P. S.
,
Gascue, C.
,
Katsanis, N.
,
Beales, P. L.
,
Badano, J. L.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.44 MB
Your tags:
english, 2013
3
Coronary heart disease is associated with a mutation in mitochondrial tRNA
Jia, Z.
,
Wang, X.
,
Qin, Y.
,
Xue, L.
,
Jiang, P.
,
Meng, Y.
,
Shi, S.
,
Wang, Y.
,
Qin Mo, J.
,
Guan, M.-X.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 551 KB
Your tags:
english, 2013
4
Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice
Koval, E. D.
,
Shaner, C.
,
Zhang, P.
,
du Maine, X.
,
Fischer, K.
,
Tay, J.
,
Chau, B. N.
,
Wu, G. F.
,
Miller, T. M.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 981 KB
Your tags:
english, 2013
5
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse
Stottmann, R. W.
,
Donlin, M.
,
Hafner, A.
,
Bernard, A.
,
Sinclair, D. A.
,
Beier, D. R.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2013
6
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression
Kote-Jarai, Z.
,
Saunders, E. J.
,
Leongamornlert, D. A.
,
Tymrakiewicz, M.
,
Dadaev, T.
,
Jugurnauth-Little, S.
,
Ross-Adams, H.
,
Al Olama, A. A.
,
Benlloch, S.
,
Halim, S.
,
Russell, R.
,
Dunning, A. M.
,
Lucc
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2013
7
The DcpS inhibitor RG3039 improves motor function in SMA mice
Van Meerbeke, J. P.
,
Gibbs, R. M.
,
Plasterer, H. L.
,
Miao, W.
,
Feng, Z.
,
Lin, M.-Y.
,
Rucki, A. A.
,
Wee, C. D.
,
Xia, B.
,
Sharma, S.
,
Jacques, V.
,
Li, D. K.
,
Pellizzoni, L.
,
Rusche, J. R.
,
Ko, C.-P.
,
Su
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 4.91 MB
Your tags:
english, 2013
8
Editorial Board
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 22 KB
Your tags:
english, 2013
9
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10
Klein, F. A. C.
,
Zeder-Lutz, G.
,
Cousido-Siah, A.
,
Mitschler, A.
,
Katz, A.
,
Eberling, P.
,
Mandel, J.-L.
,
Podjarny, A.
,
Trottier, Y.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2013
10
A genome-wide association study identified new variants associated with the risk of chronic hepatitis B
Kim, Y. J.
,
Kim, H. Y.
,
Lee, J.-H.
,
Yu, S. J.
,
Yoon, J.-H.
,
Lee, H.-S.
,
Kim, C. Y.
,
Cheong, J. Y.
,
Cho, S. W.
,
Park, N. H.
,
Park, B. L.
,
Namgoong, S.
,
Kim, L. H.
,
Cheong, H. S.
,
Shin, H. D.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2013
11
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia
Shinde, D. N.
,
Elmer, D. P.
,
Calabrese, P.
,
Boulanger, J.
,
Arnheim, N.
,
Tiemann-Boege, I.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 589 KB
Your tags:
english, 2013
12
Contents Page
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2013
13
Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis
Ishihara, T.
,
Ariizumi, Y.
,
Shiga, A.
,
Kato, T.
,
Tan, C.-F.
,
Sato, T.
,
Miki, Y.
,
Yokoo, M.
,
Fujino, T.
,
Koyama, A.
,
Yokoseki, A.
,
Nishizawa, M.
,
Kakita, A.
,
Takahashi, H.
,
Onodera, O.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.47 MB
Your tags:
english, 2013
14
Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis
Apolloni, S.
,
Amadio, S.
,
Montilli, C.
,
Volonte, C.
,
D'Ambrosi, N.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 2.42 MB
Your tags:
english, 2013
15
Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein -COP and neurite outgrowth in a cell culture model of spinal muscular atrophy
Custer, S. K.
,
Todd, A. G.
,
Singh, N. N.
,
Androphy, E. J.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 997 KB
Your tags:
english, 2013
16
Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF
Nolen, L. D.
,
Boyle, S.
,
Ansari, M.
,
Pritchard, E.
,
Bickmore, W. A.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2013
17
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease
Azzedine, H.
,
Zavadakova, P.
,
Plante-Bordeneuve, V.
,
Vaz Pato, M.
,
Pinto, N.
,
Bartesaghi, L.
,
Zenker, J.
,
Poirot, O.
,
Bernard-Marissal, N.
,
Arnaud Gouttenoire, E.
,
Cartoni, R.
,
Title, A.
,
Venturini, G
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 2013
18
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models
Gogliotti, R. G.
,
Cardona, H.
,
Singh, J.
,
Bail, S.
,
Emery, C.
,
Kuntz, N.
,
Jorgensen, M.
,
Durens, M.
,
Xia, B.
,
Barlow, C.
,
Heier, C. R.
,
Plasterer, H. L.
,
Jacques, V.
,
Kiledjian, M.
,
Jarecki, J.
,
Rusch
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.50 MB
Your tags:
english, 2013
19
Cover Page
Journal:
Human Molecular Genetics
Year:
2013
File:
PDF, 414 KB
Your tags:
2013
20
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice
Kemter, E.
,
Prueckl, P.
,
Sklenak, S.
,
Rathkolb, B.
,
Habermann, F. A.
,
Hans, W.
,
Gailus-Durner, V.
,
Fuchs, H.
,
Hrabe de Angelis, M.
,
Wolf, E.
,
Aigner, B.
,
Wanke, R.
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 1.38 MB
Your tags:
english, 2013
21
Subscription Page
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2013
22
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
Broucqsault, N.
,
Morere, J.
,
Gaillard, M.-C.
,
Dumonceaux, J.
,
Torrents, J.
,
Salort-Campana, E.
,
Maues De Paula, A.
,
Bartoli, M.
,
Fernandez, C.
,
Chesnais, A. L.
,
Ferreboeuf, M.
,
Sarda, L.
,
Dufour, H.
,
Journal:
Human Molecular Genetics
Year:
2013
Language:
english
File:
PDF, 421 KB
Your tags:
english, 2013
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×