Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 4

Results: 24

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds014
Publication type:: Article

Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 799, doi. 10.1093/hmg/ddr511

By:

Feliciano, David M.;
Quon, Jennifer L.;
Su, Tiffany;
Taylor, M. Morgan;
Bordey, Angélique

Publication type:

Article

In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 900, doi. 10.1093/hmg/ddr527

By:

Coffee, R. Lane;
Williamson, Ashley J.;
Adkins, Christopher M.;
Gray, Marisa C.;
Page, Terry L.;
Broadie, Kendal

Publication type:

Article

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 934, doi. 10.1093/hmg/ddr523

By:

Spain, Sarah L.;
Carvajal-Carmona, Luis G.;
Howarth, Kimberley M.;
Jones, Angela M.;
Su, Zhan;
Cazier, Jean-Baptiste;
Williams, Jennet;
Aaltonen, Lauri A.;
Pharoah, Paul;
Kerr, David J.;
Cheadle, Jeremy;
Li, Li;
Casey, Graham;
Vodicka, Pavel;
Sieber, Oliver;
Lipton, Lara;
Gibbs, Peter;
Martin, Nicholas G.;
Montgomery, Grant W.;
Young, Joanne

Publication type:

Article

Derivation of new human embryonic stem cell lines reveals rapid epigenetic progression in vitro that can be prevented by chemical modification of chromatin.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 751, doi. 10.1093/hmg/ddr506

By:

Diaz Perez, Silvia V.;
Kim, Rachel;
Li, Ziwei;
Marquez, Victor E.;
Patel, Sanjeet;
Plath, Kathrin;
Clark, Amander T.

Publication type:

Article

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 784, doi. 10.1093/hmg/ddr510

By:

Douni, Eleni;
Rinotas, Vagelis;
Makrinou, Eleni;
Zwerina, Jochen;
Penninger, Josef M.;
Eliopoulos, Elias;
Schett, Georg;
Kollias, George

Publication type:

Article

Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 852, doi. 10.1093/hmg/ddr515

By:

Rhodes, Jeremy D.;
Lott, Martin C.;
Russell, Sarah L.;
Moulton, Vincent;
Sanderson, Julie;
Wormstone, I. Michael;
Broadway, David C.

Publication type:

Article

A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 841, doi. 10.1093/hmg/ddr514

By:

Jonquoy, Aurélie;
Mugniery, Emilie;
Benoist-Lasselin, Catherine;
Kaci, Nabil;
Le Corre, Laurent;
Barbault, Florent;
Girard, Anne-Lise;
Le Merrer, Yves;
Busca, Patricia;
Schibler, Laurent;
Munnich, Arnold;
Legeai-Mallet, Laurence

Publication type:

Article

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 916, doi. 10.1093/hmg/ddr528

By:

Yokoi, Fumiaki;
Dang, Mai T.;
Zhou, Tong;
Li, Yuqing

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds017
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds016
Publication type:: Article

Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 874, doi. 10.1093/hmg/ddr521

By:

Xilouri, Maria;
Kyratzi, Elli;
Pitychoutis, Pothitos M.;
Papadopoulou-Daifoti, Zoi;
Perier, Celine;
Vila, Miquel;
Maniati, Matina;
Ulusoy, Ayse;
Kirik, Deniz;
Park, David S.;
Wada, Keiji;
Stefanis, Leonidas

Publication type:

Article

A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 947

By:

Cho, Michael H.;
Castaldi, Peter J.;
Wan, Emily S.;
Siedlinski, Mateusz;
Hersh, Craig P.;
Demeo, Dawn L.;
Himes, Blanca E.;
Sylvia, Jody S.;
Klanderman, Barbara J.;
Ziniti, John P.;
Lange, Christoph;
Litonjua, Augusto A.;
Sparrow, David;
Regan, Elizabeth A.;
Make, Barry J.;
Hokanson, John E.;
Murray, Tanda;
Hetmanski, Jacqueline B.;
Pillai, Sreekumar G.;
Kong, Xiangyang

Publication type:

Article

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 926, doi. 10.1093/hmg/ddr522

By:

Bossini-Castillo, Lara;
Martin, Jose-Ezequiel;
Broen, Jasper;
Gorlova, Olga;
Simeón, Carmen P.;
Beretta, Lorenzo;
Vonk, Madelon C.;
Luis Callejas, Jose;
Castellví, Ivan;
Carreira, Patricia;
José García-Hernández, Francisco;
Fernández Castro, Mónica;
Coenen, Marieke J.H.;
Riemekasten, Gabriela;
Witte, Torsten;
Hunzelmann, Nicolas;
Kreuter, Alexander;
Distler, Jörg H.W.;
Koeleman, Bobby P.;
Voskuyl, Alexandre E.

Publication type:

Article

The BH4 domain of Bcl-XL rescues astrocyte degeneration in amyotrophic lateral sclerosis by modulating intracellular calcium signals.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 826, doi. 10.1093/hmg/ddr513

By:

Martorana, Francesca;
Brambilla, Liliana;
Valori, Chiara F.;
Bergamaschi, Chiara;
Roncoroni, Chiara;
Aronica, Eleonora;
Volterra, Andrea;
Bezzi, Paola;
Rossi, Daniela

Publication type:

Article

Gene–gene interactions in breast cancer susceptibility.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 958

By:

Turnbull, Clare;
Seal, Sheila;
Renwick, Anthony;
Warren-Perry, Margaret;
Hughes, Deborah;
Elliott, Anna;
Pernet, David;
Peock, Susan;
Adlard, Julian W.;
Barwell, Julian;
Berg, Jonathan;
Brady, Angela F.;
Brewer, Carole;
Brice, Glen;
Chapman, Cyril;
Cook, Jackie;
Davidson, Rosemarie;
Donaldson, Alan;
Douglas, Fiona;
Greenhalgh, Lynn

Publication type:

Article

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 730, doi. 10.1093/hmg/ddr505

By:

Maue, Robert A.;
Burgess, Robert W.;
Wang, Bing;
Wooley, Christine M.;
Seburn, Kevin L.;
Vanier, Marie T.;
Rogers, Maximillian A.;
Chang, Catherine C.;
Chang, Ta-Yuan;
Harris, Brent T.;
Graber, David J.;
Penatti, Carlos A.A.;
Porter, Donna M.;
Szwergold, Benjamin S.;
Henderson, Leslie P.;
Totenhagen, John W.;
Trouard, Theodore P.;
Borbon, Ivan A.;
Erickson, Robert P.

Publication type:

Article

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 721, doi. 10.1093/hmg/ddr504

By:

Zeng, Xi-Lei;
Thumati, Naresh R.;
Fleisig, Helen B.;
Hukezalie, Kyle R.;
Savage, Sharon A.;
Giri, Neelam;
Alter, Blanche P.;
Wong, Judy M.Y.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds015
Publication type:: Article

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 765, doi. 10.1093/hmg/ddr508

By:

Flamein, Florence;
Riffault, Laure;
Muselet-Charlier, Céline;
Pernelle, Julie;
Feldmann, Delphine;
Jonard, Laurence;
Durand-Schneider, Anne-Marie;
Coulomb, Aurore;
Maurice, Michèle;
Nogee, Lawrence M.;
Inagaki, Nobuya;
Amselem, Serge;
Dubus, Jean Christophe;
Rigourd, Virginie;
Brémont, François;
Marguet, Christophe;
Brouard, Jacques;
de Blic, Jacques;
Clement, Annick;
Epaud, Ralph

Publication type:

Article

LRRK2 Parkinson disease mutations enhance its microtubule association.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 890, doi. 10.1093/hmg/ddr526

By:

Kett, Lauren R.;
Boassa, Daniela;
Ho, Cherry Cheng-Ying;
Rideout, Hardy J.;
Hu, Junru;
Terada, Masako;
Ellisman, Mark;
Dauer, William T.

Publication type:

Article

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509

By:

Khan, Kamron;
Logan, Clare V.;
McKibbin, Martin;
Sheridan, Eamonn;
Elçioglu, Nursel H.;
Yenice, Ozlem;
Parry, David A.;
Fernandez-Fuentes, Narcis;
Abdelhamed, Zakia I.A.;
Al-Maskari, Ahmed;
Poulter, James A.;
Mohamed, Moin D.;
Carr, Ian M.;
Morgan, Joanne E.;
Jafri, Hussain;
Raashid, Yasmin;
Taylor, Graham R.;
Johnson, Colin A.;
Inglehearn, Chris F.;
Toomes, Carmel

Publication type:

Article

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 811, doi. 10.1093/hmg/ddr512

By:

Pierson, Christopher R.;
Dulin-Smith, Ashley N.;
Durban, Ashley N.;
Marshall, Morgan L.;
Marshall, Jordan T.;
Snyder, Andrew D.;
Naiyer, Nada;
Gladman, Jordan T.;
Chandler, Dawn S.;
Lawlor, Michael W.;
Buj-Bello, Anna;
Dowling, James J.;
Beggs, Alan H.

Publication type:

Article

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 4, p. 863, doi. 10.1093/hmg/ddr520

By:

Schwarz, Nele;
Novoselova, Tatiana V.;
Wait, Robin;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article