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

Results: 18

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

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

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

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

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

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