Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 19

Results: 18

Overexpression of microRNAs from the Gtl2-Rian locus contributes to postnatal death in mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3653, doi. 10.1093/hmg/ddx223
By:
- Soichiro Kumamoto;
- Nozomi Takahashi;
- Kayo Nomura;
- Makoto Fujiwara;
- Megumi Kijioka;
- Yoshinobu Uno;
- Yoichi Matsuda;
- Yusuke Sotomaru;
- Tomohiro Kono
Publication type:
Article
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3868, doi. 10.1093/hmg/ddx225
Publication type:
Article
Neurofibromatosis type 1 alternative splicing is a key regulator of Ras/ERK signaling and learning behaviors in mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3797, doi. 10.1093/hmg/ddx264
By:
- Hieu T. Nguyen;
- Hinman, Melissa N.;
- Xuan Guo;
- Sharma, Alok;
- Hiroyuki Arakawa;
- Guangbin Luo;
- Hua Lou
Publication type:
Article
Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3850, doi. 10.1093/hmg/ddx285
By:
- Hackinger, Sophie;
- Trajanoska, Katerina;
- Styrkarsdottir, Unnur;
- Zengini, Eleni;
- Steinberg, Julia;
- Ritchie, Graham R. S.;
- Hatzikotoulas, Konstantinos;
- Gilly, Arthur;
- Evangelou, Evangelos;
- Kemp, John P.;
- Evans, David;
- Ingvarsson, Thorvaldur;
- Jonsson, Helgi;
- Thorsteinsdottir, Unnur;
- Stefansson, Kari;
- McCaskie, Andrew W.;
- Brooks, Roger A.;
- Wilkinson, Jeremy M.;
- Rivadeneira, Fernando;
- Zeggini, Eleftheria
Publication type:
Article
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3837, doi. 10.1093/hmg/ddx277
By:
- Hinderer, Christian;
- Katz, Nathan;
- Louboutin, Jean-Pierre;
- Bell, Peter;
- Tolar, Jakub;
- Orchard, Paul J.;
- Lund, Troy C.;
- Nayal, Mohamad;
- Liwei Weng;
- Mesaros, Clementina;
- de Souza, Carolina F. M.;
- Dalla Corte, Amauri;
- Giugliani, Roberto;
- Wilson, James M.
Publication type:
Article
NCEH-1 modulates cholesterol metabolism and protects against α-synuclein toxicity in a C. elegans model of Parkinson's disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3823, doi. 10.1093/hmg/ddx269
By:
- Siyuan Zhang;
- Glukhova, Samantha A.;
- Caldwell, Kim A.;
- Caldwell, Guy A.
Publication type:
Article
MicroRNA-455-3p as a potential peripheral biomarker for Alzheimer's disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3808, doi. 10.1093/hmg/ddx267
By:
- Kumar, Subodh;
- Vijayan, Murali;
- Reddy, P. Hemachandra
Publication type:
Article
A modifier of Huntington's disease onset at the MLH1 locus.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3859, doi. 10.1093/hmg/ddx286
By:
- Jong-Min Lee;
- Chao, Michael J.;
- Harold, Denise;
- Elneel, Kawther Abu;
- Gillis, Tammy;
- Holmans, Peter;
- Jones, Lesley;
- Orth, Michael;
- Myers, Richard H.;
- Seung Kwa;
- Wheeler, Vanessa C.;
- MacDonald, Marcy E.;
- Gusella, James F.
Publication type:
Article
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3792, doi. 10.1093/hmg/ddx263
By:
- Mero, I.-L.;
- Mørk, H. H.;
- Sheng, Y.;
- Blomhoff, A.;
- Opheim, G. L.;
- Erichsen, Aa;
- Vigeland, M. D.;
- Selmer, K. K.
Publication type:
Article
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3776, doi. 10.1093/hmg/ddx262
By:
- Zhuo Li;
- Yanyan Peng;
- Hufnagel, Robert B.;
- Yueh-Chiang Hu;
- Chuntao Zhao;
- Queme, Luis F.;
- Zaza Khuchua;
- Driver, Ashley M.;
- Fei Dong;
- Lu, Q. Richard;
- Lindquist, Diana M.;
- Jankowski, Michael P.;
- Stottmann, Rolf W.;
- Kao, Winston W. Y.;
- Taosheng Huang
Publication type:
Article
Protein phosphatase 1 regulates huntingtin exon 1 aggregation and toxicity.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3763, doi. 10.1093/hmg/ddx260
By:
- Branco-Santos, Joana;
- Herrera, Federico;
- Poças, Gonçalo M.;
- Pires-Afonso, Yolanda;
- Giorgini, Flaviano;
- Domingos, Pedro M.;
- Outeiro, Tiago F.
Publication type:
Article
Mutations in TGM6 induce the unfolded protein response in SCA35.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3749, doi. 10.1093/hmg/ddx259
By:
- Tripathy, Debasmita;
- Vignoli, Beatrice;
- Ramesh, Nandini;
- Polanco, Maria Jose;
- Coutelier, Marie;
- Stephen, Christopher D.;
- Canossa, Marco;
- Monin, Marie-Lorraine;
- Aeschlimann, Pascale;
- Turberville, Shannon;
- Aeschlimann, Daniel;
- Schmahmann, Jeremy D.;
- Hadjivassiliou, Marios;
- Durr, Alexandra;
- Pandey, Udai B.;
- Pennuto, Maria;
- Basso, Manuela
Publication type:
Article
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3736, doi. 10.1093/hmg/ddx258
By:
- Raess, Matthieu A.;
- Cowling, Belinda S.;
- Bertazzi, Dimitri L.;
- Kretz, Christine;
- Rinaldi, Bruno;
- Xuereb, Jean-Marie;
- Kessler, Pascal;
- Romero, Norma B.;
- Payrastre, Bernard;
- Friant, Sylvie;
- Laporte, Jocelyn
Publication type:
Article
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3722, doi. 10.1093/hmg/ddx257
By:
- Cong Tian;
- Gagnon, Leona H.;
- Longo-Guess, Chantal;
- Korstanje, Ron;
- Sheehan, Susan M.;
- Ohlemiller, Kevin K.;
- Schrader, Angela D.;
- Lett, Jaclynn M.;
- Johnson, Kenneth R.
Publication type:
Article
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cε) impairing TORC2-dependent AKT activation.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3713, doi. 10.1093/hmg/ddx256
By:
- Alcantara, Diana;
- Elmslie, Frances;
- Tetreault, Martine;
- Bareke, Eric;
- Hartley, Taila;
- Majewski, Jacek;
- Boycott, Kym;
- Innes, A. Micheil;
- Dyment, David A.;
- O'Driscoll, Mark
Publication type:
Article
The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3699, doi. 10.1093/hmg/ddx255
By:
- McCammon, Jasmine M.;
- Blaker-Lee, Alicia;
- Xiao Chen;
- Sive, Hazel
Publication type:
Article
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3682, doi. 10.1093/hmg/ddx252
By:
- Frattini, Paola;
- Villa, Chiara;
- De Santis, Francesca;
- Meregalli, Mirella;
- Belicchi, Marzia;
- Erratico, Silvia;
- Bella, Pamela;
- Raimondi, Manuela Teresa;
- Qilong Lu;
- Torrente, Yvan
Publication type:
Article
The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3663, doi. 10.1093/hmg/ddx248
By:
- Rha, Jennifer;
- Jones, Stephanie K.;
- Fidler, Jonathan;
- Banerjee, Ayan;
- Leung, Sara W.;
- Morris, Kevin J.;
- Wong, Jennifer C.;
- Inglis, George Andrew S.;
- Shapiro, Lindsey;
- Qiudong Deng;
- Cutler, Alicia A.;
- Hanif, Adam M.;
- Pardue, Machelle T.;
- Schaffer, Ashleigh;
- Seyfried, Nicholas T.;
- Moberg, Kenneth H.;
- Bassell, Gary J.;
- Escayg, Andrew;
- García, Paul S.;
- Corbett, Anita H.
Publication type:
Article