Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 10

Results: 26

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2711, doi. 10.1093/hmg/ddt664

By:

Fakhouri, Walid D.;
Rahimov, Fedik;
Attanasio, Catia;
Kouwenhoven, Evelyn N.;
Ferreira De Lima, Renata L.;
Felix, Temis Maria;
Nitschke, Larissa;
Huver, David;
Barrons, Julie;
Kousa, Youssef A.;
Leslie, Elizabeth;
Pennacchio, Len A.;
Van Bokhoven, Hans;
Visel, Axel;
Zhou, Huiqing;
Murray, Jeffrey C.;
Schutte, Brian C.

Publication type:

Article

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2694, doi. 10.1093/hmg/ddt663

By:

Ferrier, Andrew;
Sato, Tadasu;
De Repentigny, Yves;
Gibeault, Sabrina;
Bhanot, Kunal;
O'Meara, Ryan W.;
Lynch-Godrei, Anisha;
Kornfeld, Samantha F.;
Young, Kevin G.;
Kothary, Rashmi

Publication type:

Article

An enhanced integrated stress response ameliorates mutant SOD1-induced ALS.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2629, doi. 10.1093/hmg/ddt658

By:

Wang, Lijun;
Popko, Brian;
Roos, Raymond P.

Publication type:

Article

X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2542, doi. 10.1093/hmg/ddt645

By:

Weber, Franziska D.;
Wiesinger, Christoph;
Forss-Petter, Sonja;
Regelsberger, Günther;
Einwich, Angelika;
Weber, Willi H.A.;
Köhler, Wolfgang;
Stockinger, Hannes;
Berger, Johannes

Publication type:

Article

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2551, doi. 10.1093/hmg/ddt646

By:

Legan, P. Kevin;
Goodyear, Richard J.;
Morín, Matías;
Mencia, Angeles;
Pollard, Hilary;
Olavarrieta, Leticia;
Korchagina, Julia;
Modamio-Hoybjor, Silvia;
Mayo, Fernando;
Moreno, Felipe;
Moreno-Pelayo, Miguel-Angel;
Richardson, Guy P.

Publication type:

Article

CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2729, doi. 10.1093/hmg/ddt666

By:

Raj, Towfique;
Ryan, Katie J.;
Replogle, Joseph M.;
Chibnik, Lori B.;
Rosenkrantz, Laura;
Tang, Anna;
Rothamel, Katie;
Stranger, Barbara E.;
Bennett, David A.;
Evans, Denis A.;
De Jager, Philip L.;
Bradshaw, Elizabeth M.

Publication type:

Article

TDP-43 causes differential pathology in neuronal versus glial cells in the mouse brain.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2678, doi. 10.1093/hmg/ddt662

By:

Yan, Sen;
Wang, Chuan-En;
Wei, Wenjie;
Gaertig, Marta A.;
Lai, Liangxue;
Li, Shihua;
Li, Xiao-Jiang

Publication type:

Article

Role of toll-like receptors in the pathogenesis of dystrophin-deficient skeletal and heart muscle.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2604, doi. 10.1093/hmg/ddt656

By:

Henriques-Pons, Andrea;
Yu, Qing;
Rayavarapu, Sree;
Cohen, Tatiana V.;
Ampong, Beryl;
Cha, Hee Jae;
Jahnke, Vanessa;
Van der Meulen, Jack;
Wang, Daqing;
Jiang, Weiwen;
Kandimalla, Ekambar R.;
Agrawal, Sudhir;
Spurney, Chistopher F.;
Nagaraju, Kanneboyina

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 10, p. NP, doi. 10.1093/hmg/ddu181
Publication type:: Article

Polycystin-1 regulates actin cytoskeleton organization and directional cell migration through a novel PC1-Pacsin 2-N-Wasp complex.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2769, doi. 10.1093/hmg/ddt672

By:

Yao, Gang;
Su, Xuefeng;
Nguyen, Vy;
Roberts, Kristina;
Li, Xiaogang;
Takakura, Ayumi;
Plomann, Markus;
Zhou, Jing

Publication type:

Article

Human-specific microRNA regulation of FOXO1: implications for microRNA recognition element evolution.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2593, doi. 10.1093/hmg/ddt655

By:

McLoughlin, Hayley S.;
Wan, Ji;
Spengler, Ryan M.;
Xing, Yi;
Davidson, Beverly L.

Publication type:

Article

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2527, doi. 10.1093/hmg/ddt644

By:

Havlicek, Steven;
Kohl, Zacharias;
Mishra, Himanshu K.;
Prots, Iryna;
Eberhardt, Esther;
Denguir, Naime;
Wend, Holger;
Plötz, Sonja;
Boyer, Leah;
Marchetto, Maria C.N.;
Aigner, Stefan;
Sticht, Heinrich;
Groemer, Teja W.;
Hehr, Ute;
Lampert, Angelika;
Schlötzer-Schrehardt, Ursula;
Winkler, Jürgen;
Gage, Fred H.;
Winner, Beate

Publication type:

Article

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2665, doi. 10.1093/hmg/ddt661

By:

Wert, Katherine J.;
Skeie, Jessica M.;
Bassuk, Alexander G.;
Olivier, Alicia K.;
Tsang, Stephen H.;
Mahajan, Vinit B.

Publication type:

Article

Seasonal changes in gene expression represent cell-type composition in whole blood.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2721, doi. 10.1093/hmg/ddt665

By:

De Jong, Simone;
Neeleman, Marjolein;
Luykx, Jurjen J.;
Ten Berg, Maarten J.;
Strengman, Eric;
Den Breeijen, Hanneke H.;
Stijvers, Leon C.;
Buizer-Voskamp, Jacobine E.;
Bakker, Steven C.;
Kahn, René S.;
Horvath, Steve;
Van Solinge, Wouter W.;
Ophoff, Roel A.

Publication type:

Article

A histone deacetylase inhibitor improves hypothyroidism caused by a TRα1 mutant.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2651, doi. 10.1093/hmg/ddt660

By:

Kim, Dong Wook;
Park, Jeong Won;
Willingham, Mark C.;
Cheng, Sheue-yann

Publication type:

Article

Guilt by rewiring: gene prioritization through network rewiring in Genome Wide Association Studies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2780, doi. 10.1093/hmg/ddt668

By:

Hou, Lin;
Chen, Min;
Zhang, Clarence K.;
Cho, Judy;
Zhao, Hongyu

Publication type:

Article

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2569, doi. 10.1093/hmg/ddt647

By:

Rainger, Jacqueline K.;
Bhatia, Shipra;
Bengani, Hemant;
Gautier, Philippe;
Rainger, Joe;
Pearson, Matt;
Ansari, Morad;
Crow, Jayne;
Mehendale, Felicity;
Palinkasova, Bozena;
Dixon, Michael J.;
Thompson, Pamela J.;
Matarin, Mar;
Sisodiya, Sanjay M.;
Kleinjan, Dirk A.;
FitzPatrick, David R.

Publication type:

Article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2752, doi. 10.1093/hmg/ddt669

By:

Lionel, Anath C.;
Tammimies, Kristiina;
Vaags, Andrea K.;
Rosenfeld, Jill A.;
Ahn, Joo Wook;
Merico, Daniele;
Noor, Abdul;
Runke, Cassandra K.;
Pillalamarri, Vamsee K.;
Carter, Melissa T.;
Gazzellone, Matthew J.;
Thiruvahindrapuram, Bhooma;
Fagerberg, Christina;
Laulund, Lone W.;
Pellecchia, Giovanna;
Lamoureux, Sylvia;
Deshpande, Charu;
Clayton-Smith, Jill;
White, Ann C.;
Leather, Susan

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 10, p. NP, doi. 10.1093/hmg/ddu179
Publication type:: Article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2511, doi. 10.1093/hmg/ddt643

By:

Kelberman, Daniel;
Islam, Lily;
Lakowski, Jörn;
Bacchelli, Chiara;
Chanudet, Estelle;
Lescai, Francesco;
Patel, Aara;
Stupka, Elia;
Buck, Anja;
Wolf, Stephan;
Beales, Philip L.;
Jacques, Thomas S.;
Bitner-Glindzicz, Maria;
Liasis, Alki;
Lehmann, Ordan J.;
Kohlhase, Jürgen;
Nischal, Ken K.;
Sowden, Jane C.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 10, p. NP, doi. 10.1093/hmg/ddu182
Publication type:: Article

Dexamethasone induces heat shock response and slows down disease progression in mouse and fly models of Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2737, doi. 10.1093/hmg/ddt667

By:

Maheshwari, Megha;
Bhutani, Supriya;
Das, Aniruddha;
Mukherjee, Rajarshi;
Sharma, Ankit;
Kino, Yoshihiro;
Nukina, Nobuyuki;
Jana, Nihar Ranjan

Publication type:

Article

Recurrent genomic alterations in sequential progressive leukoplakia and oral cancer: drivers of oral tumorigenesis?

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2618, doi. 10.1093/hmg/ddt657

By:

Cervigne, Nilva K.;
Machado, Jerry;
Goswami, Rashmi S.;
Sadikovic, Bekim;
Bradley, Grace;
Perez-Ordonez, Bayardo;
Galloni, Natalie Naranjo;
Gilbert, Ralph;
Gullane, Patrick;
Irish, Jonathan C.;
Jurisica, Igor;
Reis, Patricia P.;
Kamel-Reid, Suzanne

Publication type:

Article

Loss of LRPPRC causes ATP synthase deficiency.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2580, doi. 10.1093/hmg/ddt652

By:

Mourier, Arnaud;
Ruzzenente, Benedetta;
Brandt, Tobias;
Kühlbrandt, Werner;
Larsson, Nils-Göran

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 10, p. NP, doi. 10.1093/hmg/ddu180
Publication type:: Article

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot–Marie–Tooth type 2D mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 10, p. 2639, doi. 10.1093/hmg/ddt659

By:

Sleigh, James N.;
Grice, Stuart J.;
Burgess, Robert W.;
Talbot, Kevin;
Cader, M. Zameel

Publication type:

Article