Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 21

Results: 26

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5638, doi. 10.1093/hmg/ddu280

By:

Zhu, Peng-Peng;
Denton, Kyle R.;
Pierson, Tyler Mark;
Li, Xue-Jun;
Blackstone, Craig

Publication type:

Article

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5659, doi. 10.1093/hmg/ddu282

By:

Neben, Cynthia L.;
Idoni, Brian;
Salva, Joanna E.;
Tuzon, Creighton T.;
Rice, Judd C.;
Krakow, Deborah;
Merrill, Amy E.

Publication type:

Article

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5630, doi. 10.1093/hmg/ddu279

By:

Xi, Zhengrui;
Rainero, Innocenzo;
Rubino, Elisa;
Pinessi, Lorenzo;
Bruni, Amalia C;
Maletta, Raffaele G;
Nacmias, Benedetta;
Sorbi, Sandro;
Galimberti, Daniela;
Surace, Ezequiel I;
Zheng, Yonglan;
Moreno, Danielle;
Sato, Christine;
Liang, Yan;
Zhou, Ye;
Robertson, Janice;
Zinman, Lorne;
Tartaglia, Maria Carmela;
St. George-Hyslop, Peter;
Rogaeva, Ekaterina

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5720, doi. 10.1093/hmg/ddu287

By:

Camerino, Giulia Maria;
Cannone, Maria;
Giustino, Arcangela;
Massari, Ada Maria;
Capogrosso, Roberta Francesca;
Cozzoli, Anna;
De Luca, Annamaria

Publication type:

Article

Genetic dissection reveals that Akt is the critical kinase downstream of LRRK2 to phosphorylate and inhibit FOXO1, and promotes neuron survival.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5649, doi. 10.1093/hmg/ddu281

By:

Chuang, Chia-Lung;
Lu, Yu-Ning;
Wang, Hung-Cheng;
Chang, Hui-Yun

Publication type:

Article

Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5706, doi. 10.1093/hmg/ddu286

By:

Hasumi, Yukiko;
Baba, Masaya;
Hasumi, Hisashi;
Huang, Ying;
Lang, Martin;
Reindorf, Rachel;
Oh, Hyoung-bin;
Sciarretta, Sebastiano;
Nagashima, Kunio;
Haines, Diana C.;
Schneider, Michael D.;
Adelstein, Robert S.;
Schmidt, Laura S.;
Sadoshima, Junichi;
Marston Linehan, W.

Publication type:

Article

Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5672, doi. 10.1093/hmg/ddu283

By:

Inoue, Tadashi;
Ohbayashi, Tetsuya;
Fujikawa, Yusuke;
Yoshida, Hideyuki;
Akama, Tomoya O.;
Noda, Kazuo;
Horiguchi, Masahito;
Kameyama, Katsuro;
Hata, Yoshio;
Takahashi, Kanji;
Kusumoto, Kenji;
Nakamura, Tomoyuki

Publication type:

Article

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5774, doi. 10.1093/hmg/ddu291

By:

Xie, Yajing (Angela);
Lee, Winston;
Cai, Carolyn;
Gambin, Tomasz;
Nõupuu, Kalev;
Sujirakul, Tharikarn;
Ayuso, Carmen;
Jhangiani, Shalini;
Muzny, Donna;
Boerwinkle, Eric;
Gibbs, Richard;
Greenstein, Vivienne C.;
Lupski, James R.;
Tsang, Stephen H.;
Allikmets, Rando

Publication type:

Article

Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5683, doi. 10.1093/hmg/ddu285

By:

Ji, Baohu;
Higa, Kerin K.;
Kim, Minjung;
Zhou, Lynn;
Young, Jared W.;
Geyer, Mark A.;
Zhou, Xianjin

Publication type:

Article

Role of OVCA1/DPH1 in craniofacial abnormalities of Miller–Dieker syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5579, doi. 10.1093/hmg/ddu273

By:

Yu, Yi-Ru;
You, Li-Ru;
Yan, Yu-Ting;
Chen, Chun-Ming

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu528
Publication type:: Article

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5733, doi. 10.1093/hmg/ddu288

By:

Sharoyko, Vladimir V.;
Abels, Mia;
Sun, Jiangming;
Nicholas, Lisa M.;
Mollet, Ines Guerra;
Stamenkovic, Jelena A.;
Göhring, Isabel;
Malmgren, Siri;
Storm, Petter;
Fadista, João;
Spégel, Peter;
Metodiev, Metodi D.;
Larsson, Nils-Göran;
Eliasson, Lena;
Wierup, Nils;
Mulder, Hindrik

Publication type:

Article

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5781, doi. 10.1093/hmg/ddu296

By:

Di Costanzo, Stefania;
Balasubramanian, Anuradha;
Pond, Heather L.;
Rozkalne, Anete;
Pantaleoni, Chiara;
Saredi, Simona;
Gupta, Vandana A.;
Sunu, Christine M.;
Yu, Timothy W.;
Kang, Peter B.;
Salih, Mustafa A.;
Mora, Marina;
Gussoni, Emanuela;
Walsh, Christopher A.;
Manzini, M. Chiara

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu527
Publication type:: Article

Peroxidasin is essential for eye development in the mouse.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5597, doi. 10.1093/hmg/ddu274

By:

Yan, Xiaohe;
Sabrautzki, Sibylle;
Horsch, Marion;
Fuchs, Helmut;
Gailus-Durner, Valerie;
Beckers, Johannes;
Hrabě de Angelis, Martin;
Graw, Jochen

Publication type:

Article

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5793, doi. 10.1093/hmg/ddu297

By:

Theis, Jeanne L.;
Zimmermann, Michael T.;
Larsen, Brandon T.;
Rybakova, Inna N.;
Long, Pamela A.;
Evans, Jared M.;
Middha, Sumit;
de Andrade, Mariza;
Moss, Richard L.;
Wieben, Eric D.;
Michels, Virginia V.;
Olson, Timothy M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu529
Publication type:: Article

The chaperone-like protein 14-3-3η interacts with human α-synuclein aggregation intermediates rerouting the amyloidogenic pathway and reducing α-synuclein cellular toxicity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5615, doi. 10.1093/hmg/ddu275

By:

Plotegher, Nicoletta;
Kumar, Dhruv;
Tessari, Isabella;
Brucale, Marco;
Munari, Francesca;
Tosatto, Laura;
Belluzzi, Elisa;
Greggio, Elisa;
Bisaglia, Marco;
Capaldi, Stefano;
Aioanei, Daniel;
Mammi, Stefano;
Monaco, Hugo L.;
Samo, Bruno;
Bubacco, Luigi

Publication type:

Article

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5814, doi. 10.1093/hmg/ddu299

By:

Motta, Marialetizia;
Camerini, Serena;
Tatti, Massimo;
Casella, Marialuisa;
Torreri, Paola;
Crescenzi, Marco;
Tartaglia, Marco;
Salvioli, Rosa

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 21, p. NP, doi. 10.1093/hmg/ddu530
Publication type:: Article

Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5847, doi. 10.1093/hmg/ddu301

By:

Ried, Janina S.;
Shin, So-Youn;
Krumsiek, Jan;
Illig, Thomas;
Theis, Fabian J.;
Spector, Tim D.;
Adamski, Jerzy;
Wichmann, H.-Erich;
Strauch, Konstantin;
Soranzo, Nicole;
Suhre, Karsten;
Gieger, Christian

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5763, doi. 10.1093/hmg/ddu290

By:

Abi Habib, Walid;
Azzi, Salah;
Brioude, Frédéric;
Steunou, Virginie;
Thibaud, Nathalie;
Neves, Cristina Das;
Le Jule, Marilyne;
Chantot-Bastaraud, Sandra;
Keren, Boris;
Lyonnet, Stanislas;
Michot, Caroline;
Rossi, Massimiliano;
Pasquier, Laurent;
Gicquel, Christine;
Rossignol, Sylvie;
Le Bouc, Yves;
Netchine, Irène

Publication type:

Article

Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5750, doi. 10.1093/hmg/ddu289

By:

Visser, Mijke;
Palstra, Robert-Jan;
Kayser, Manfred

Publication type:

Article

Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5805, doi. 10.1093/hmg/ddu298

By:

ben Bdira, Fredj;
González, Esperanza;
Pluta, Paula;
Laín, Ana;
Sanz-Parra, Arantza;
Falcon-Perez, Juan Manuel;
Millet, Oscar

Publication type:

Article

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5827, doi. 10.1093/hmg/ddu276

By:

Ratnapriya, Rinki;
Zhan, Xiaowei;
Fariss, Robert N.;
Branham, Kari E.;
Zipprer, David;
Chakarova, Christina F.;
Sergeev, Yuri V.;
Campos, Maria M.;
Othman, Mohammad;
Friedman, James S.;
Maminishkis, Arvydas;
Waseem, Naushin H.;
Brooks, Matthew;
Rajasimha, Harsha K.;
Edwards, Albert O.;
Lotery, Andrew;
Klein, Barbara E.;
Truitt, Barbara J.;
Li, Bingshan;
Schaumberg, Debra A.

Publication type:

Article

Coding variants in TREM2 increase risk for Alzheimer's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 21, p. 5838, doi. 10.1093/hmg/ddu277

By:

Jin, Sheng Chih;
Benitez, Bruno A.;
Karch, Celeste M.;
Cooper, Breanna;
Skorupa, Tara;
Carrell, David;
Norton, Joanne B.;
Hsu, Simon;
Harari, Oscar;
Cai, Yefei;
Bertelsen, Sarah;
Goate, Alison M.;
Cruchaga, Carlos

Publication type:

Article