Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 10

Results: 24

TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/IGF-1 signaling.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1952, doi. 10.1093/hmg/ddr076

By:

Zhang, Tao;
Mullane, Patrick C.;
Periz, Goran;
Wang, Jiou

Publication type:

Article

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078

By:

Liu, Pengfei;
Erez, Ayelet;
Sreenath Nagamani, Sandesh C.;
Bi, Weimin;
Carvalho, Claudia M. B.;
Simmons, Alexandra D.;
Wiszniewska, Joanna;
Fang, Ping;
Eng, Patricia A.;
Cooper, M. Lance;
Sutton, V. Reid;
Roeder, Elizabeth R.;
Bodensteiner, John B.;
Delgado, Mauricio R.;
Prakash, Siddharth K.;
Belmont, John W.;
Stankiewicz, Pawel;
Berg, Jonathan S.;
Shinawi, Marwan;
Patel, Ankita

Publication type:

Article

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2015, doi. 10.1093/hmg/ddr084

By:

Ottenheijm, Coen A.C.;
Lawlor, Michael W.;
Stienen, Ger J.M.;
Granzier, Henk;
Beggs, Alan H.

Publication type:

Article

Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2058, doi. 10.1093/hmg/ddr090

By:

Miyamoto, Tatsuo;
Porazinski, Sean;
Wang, Huijia;
Borovina, Antonia;
Ciruna, Brian;
Shimizu, Atsushi;
Kajii, Tadashi;
Kikuchi, Akira;
Furutani-Seiki, Makoto;
Matsuura, Shinya

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr130
Publication type:: Article

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1916, doi. 10.1093/hmg/ddr073

By:

Kloosterman, Wigard P.;
Guryev, Victor;
van Roosmalen, Mark;
Duran, Karen J.;
de Bruijn, Ewart;
Bakker, Saskia C.M.;
Letteboer, Tom;
van Nesselrooij, Bernadette;
Hochstenbach, Ron;
Poot, Martin;
Cuppen, Edwin

Publication type:

Article

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071

By:

Carelli, Valerio;
Schimpf, Simone;
Fuhrmann, Nico;
Valentino, Maria Lucia;
Zanna, Claudia;
Iommarini, Luisa;
Papke, Monika;
Schaich, Simone;
Tippmann, Sabine;
Baumann, Britta;
Barboni, Piero;
Longanesi, Lora;
Rugolo, Michela;
Ghelli, Anna;
Alavi, Marcel V.;
Youle, Richard J.;
Bucchi, Laura;
Carroccia, Rosanna;
Giannoccaro, Maria Pia;
Tonon, Caterina

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr132
Publication type:: Article

MSUT2 is a determinant of susceptibility to tau neurotoxicity.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1989, doi. 10.1093/hmg/ddr079

By:

Guthrie, Chris R.;
Greenup, Lynne;
Leverenz, James B.;
Kraemer, Brian C.

Publication type:

Article

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074

By:

Koumbaris, George;
Hatzisevastou-Loukidou, Hariklia;
Alexandrou, Angelos;
Ioannides, Marios;
Christodoulou, Christodoulos;
Fitzgerald, Tomas;
Rajan, Diana;
Clayton, Stephen;
Kitsiou-Tzeli, Sophia;
Vermeesch, Joris R.;
Skordis, Nicos;
Antoniou, Pavlos;
Kurg, Ants;
Georgiou, Ioannis;
Carter, Nigel P.;
Patsalis, Philippos C.

Publication type:

Article

Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083

By:

Treves, Susan;
Vukcevic, Mirko;
Jeannet, Pierre-Yves;
Levano, Soledad;
Girard, Thierry;
Urwyler, Albert;
Fischer, Dirk;
Voit, Thomas;
Jungbluth, Heinz;
Lillis, Sue;
Muntoni, Francesco;
Quinlivan, Ros;
Sarkozy, Anna;
Bushby, Kate;
Zorzato, Francesco

Publication type:

Article

Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2048, doi. 10.1093/hmg/ddr089

By:

Bastin, Jean;
Lopes-Costa, Alexandra;
Djouadi, Fatima

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr135
Publication type:: Article

Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1873, doi. 10.1093/hmg/ddr069

By:

Melko, Mireille;
Douguet, Dominique;
Bensaid, Mounia;
Zongaro, Samantha;
Verheggen, Céline;
Gecz, Jozef;
Bardoni, Barbara

Publication type:

Article

TCF7L2 splice variants have distinct effects on β-cell turnover and function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1906, doi. 10.1093/hmg/ddr072

By:

Le Bacquer, Olivier;
Shu, Luan;
Marchand, Marion;
Neve, Bernadette;
Paroni, Federico;
Kerr Conte, Julie;
Pattou, Francois;
Froguel, Philippe;
Maedler, Kathrin

Publication type:

Article

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1886

By:

Yıldırım, Yeşerin;
Kocasoy Orhan, Elif;
Ugur Iseri, Sibel Aylin;
Serdaroglu-Oflazer, Piraye;
Kara, Bülent;
Solakoğlu, Seyhun;
Tolun, Aslıhan

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr133
Publication type:: Article

Electroconvulsive shock ameliorates disease processes and extends survival in huntingtin mutant mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2078, doi. 10.1093/hmg/ddr082

By:

Mughal, Mohamed R.;
Baharani, Akanksha;
Chigurupati, Srinivasulu;
Son, Tae Gen;
Chen, Edmund;
Yang, Peter;
Okun, Eitan;
Arumugam, Thiruma;
Chan, Sic L.;
Mattson, Mark P.

Publication type:

Article

Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2071, doi. 10.1093/hmg/ddr086

By:

Sulem, Patrick;
Gudbjartsson, Daniel F.;
Geller, Frank;
Prokopenko, Inga;
Feenstra, Bjarke;
Aben, Katja K.H.;
Franke, Barbara;
den Heijer, Martin;
Kovacs, Peter;
Stumvoll, Michael;
Mägi, Reedik;
Yanek, Lisa R.;
Becker, Lewis C.;
Boyd, Heather A.;
Stacey, Simon N.;
Walters, G. Bragi;
Jonasdottir, Adalbjorg;
Thorleifsson, Gudmar;
Holm, Hilma;
Gudjonsson, Sigurjon A.

Publication type:

Article

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2000, doi. 10.1093/hmg/ddr080

By:

Chavali, Venkata R.M.;
Khan, Naheed W.;
Cukras, Catherine A.;
Bartsch, Dirk-Uwe;
Jablonski, Monica M.;
Ayyagari, Radha

Publication type:

Article

Growth arrest-specific 1 binds to and controls the maturation and processing of the amyloid-β precursor protein.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2026, doi. 10.1093/hmg/ddr085

By:

Chapuis, Julien;
Vingtdeux, Valérie;
Campagne, Fabien;
Davies, Peter;
Marambaud, Philippe

Publication type:

Article

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1966, doi. 10.1093/hmg/ddr077

By:

Shi, Guang;
Lee, Jeffrey R.;
Grimes, David A.;
Racacho, Lemuel;
Ye, David;
Yang, Howard;
Ross, Owen A.;
Farrer, Matthew;
McQuibban, G. Angus;
Bulman, Dennis E.

Publication type:

Article

The Batten disease gene CLN3 is required for the response to oxidative stress.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 2037, doi. 10.1093/hmg/ddr088

By:

Tuxworth, Richard I.;
Chen, Haiyang;
Vivancos, Valerie;
Carvajal, Nancy;
Huang, Xun;
Tear, Guy

Publication type:

Article

Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1937, doi. 10.1093/hmg/ddr075

By:

Munsie, Lise;
Caron, Nicholas;
Atwal, Randy Singh;
Marsden, Ian;
Wild, Edward J.;
Bamburg, James R.;
Tabrizi, Sarah J.;
Truant, Ray

Publication type:

Article