Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 22

Results: 24

Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4544

By:

Orozco, Gisela;
Hinks, Anne;
Eyre, Steve;
Ke, Xiayi;
Gibbons, Laura J.;
Bowes, John;
Flynn, Edward;
Martin, Paul;
Wilson, Anthony G.;
Bax, Deborah E.;
Morgan, Ann W.;
Emery, Paul;
Steer, Sophia;
Hocking, Lynne;
Reid, David M.;
Wordsworth, Paul;
Harrison, Pille;
Thomson, Wendy;
Barton, Anne;
Worthington, Jane

Publication type:

Article

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4497, doi. 10.1093/hmg/ddq381

By:

Sharifi, A.;
Kousi, M.;
Sagné, C.;
Bellenchi, G.C.;
Morel, L.;
Darmon, M.;
Hůlková, H.;
Ruivo, R.;
Debacker, C.;
El Mestikawy, S.;
Elleder, M.;
Lehesjoki, A.-E.;
Jalanko, A.;
Gasnier, B.;
Kyttälä, A.

Publication type:

Article

A Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4474, doi. 10.1093/hmg/ddq379

By:

Choi, Jin-Kyu;
Jeon, Yong-Chul;
Lee, Dae-Weon;
Oh, Jae-Min;
Lee, Hyun-Pil;
Jeong, Byung-Hoon;
Carp, Richard I.;
Koh, Young Ho;
Kim, Yong-Sun

Publication type:

Article

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377

By:

Poirier, Karine;
Saillour, Yoann;
Bahi-Buisson, Nadia;
Jaglin, Xavier H.;
Fallet-Bianco, Catherine;
Nabbout, Rima;
Castelnau-Ptakhine, Laetitia;
Roubertie, Agathe;
Attie-Bitach, Tania;
Desguerre, Isabelle;
Genevieve, David;
Barnerias, Christine;
Keren, Boris;
Lebrun, Nicolas;
Boddaert, Nathalie;
Encha-Razavi, Féréchté;
Chelly, Jamel

Publication type:

Article

Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4353, doi. 10.1093/hmg/ddq357

By:

Walters, Lauren C.;
Cantrell, V. Ashley;
Weller, Kevin P.;
Mosher, Jack T.;
Southard-Smith, E. Michelle

Publication type:

Article

Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4543

By:

Barton, Anne;
Eyre, Steve;
Ke, Xiayi;
Hinks, Anne;
Bowes, John;
Flynn, Edward;
Martin, Paul;
Wilson, Anthony G.;
Morgan, Ann W.;
Emery, Paul;
Steer, Sophia;
Hocking, Lynne J.;
Reid, David M.;
Harrison, Pille;
Wordsworth, Paul;
Thomson, Wendy;
Worthington, Jane

Publication type:

Article

Identification of epistatic effects using a protein–protein interaction database.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4345, doi. 10.1093/hmg/ddq356

By:

Sun, Yan V.;
Kardia, Sharon L.R.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq441
Publication type:: Article

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4453, doi. 10.1093/hmg/ddq371

By:

Walne, Amanda J.;
Vulliamy, Tom;
Beswick, Richard;
Kirwan, Michael;
Dokal, Inderjeet

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq444
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq438
Publication type:: Article

Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4437, doi. 10.1093/hmg/ddq370

By:

Burbulla, Lena F.;
Schelling, Carina;
Kato, Hiroki;
Rapaport, Doron;
Woitalla, Dirk;
Schiesling, Carola;
Schulte, Claudia;
Sharma, Manu;
Illig, Thomas;
Bauer, Peter;
Jung, Stephan;
Nordheim, Alfred;
Schöls, Ludger;
Riess, Olaf;
Krüger, Rejko

Publication type:

Article

Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4529, doi. 10.1093/hmg/ddq383

By:

Ferri, Alberto;
Fiorenzo, Paolo;
Nencini, Monica;
Cozzolino, Mauro;
Pesaresi, Maria Grazia;
Valle, Cristiana;
Sepe, Sara;
Moreno, Sandra;
Carrì, Maria Teresa

Publication type:

Article

Effects of cis-regulatory variation differ across regions of the adult human brain.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4490, doi. 10.1093/hmg/ddq380

By:

Buonocore, Federica;
Hill, Matthew J.;
Campbell, Colin D.;
Oladimeji, Paul B.;
Jeffries, Aaron R.;
Troakes, Claire;
Hortobagyi, Tibor;
Williams, Brenda P.;
Cooper, Jonathan D.;
Bray, Nicholas J.

Publication type:

Article

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4330, doi. 10.1093/hmg/ddq355

By:

Hurd, Toby;
Zhou, Weibin;
Jenkins, Paul;
Liu, Chia-Jen;
Swaroop, Anand;
Khanna, Hemant;
Martens, Jeffrey;
Hildebrandt, Friedhelm;
Margolis, Ben

Publication type:

Article

Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4319, doi. 10.1093/hmg/ddq354

By:

Wang, Yu;
Romigh, Todd;
He, Xin;
Orloff, Mohammed S.;
Silverman, Robert H.;
Heston, Warren D.;
Eng, Charis

Publication type:

Article

Kinesin-1 transport reductions enhance human tau hyperphosphorylation, aggregation and neurodegeneration in animal models of tauopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4399, doi. 10.1093/hmg/ddq363

By:

Falzone, Tomás L.;
Gunawardena, Shermali;
McCleary, David;
Reis, Gerald F.;
Goldstein, Lawrence S.B.

Publication type:

Article

Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4515, doi. 10.1093/hmg/ddq382

By:

Brown, Jacquelyn A.;
Emnett, Ryan J.;
White, Crystal R.;
Yuede, Carla M.;
Conyers, Sara B.;
O'Malley, Karen L.;
Wozniak, David F.;
Gutmann, David H.

Publication type:

Article

The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4373, doi. 10.1093/hmg/ddq358

By:

Marcora, Edoardo;
Kennedy, Mary B.

Publication type:

Article

Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4421, doi. 10.1093/hmg/ddq369

By:

Tam, Lawrence C.S.;
Kiang, Anna-Sophia;
Campbell, Matthew;
Keaney, James;
Jane Farrar, G.;
Humphries, Marian M.;
Kenna, Paul F.;
Humphries, Pete

Publication type:

Article

A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4385, doi. 10.1093/hmg/ddq361

By:

Braunstein, Kerstin E.;
Eschbach, Judith;
Ròna-Vörös, Krisztina;
Soylu, Rana;
Mikrouli, Elli;
Larmet, Yves;
René, Frédérique;
De Aguilar, Jose-Luis Gonzalez;
Loeffler, Jean-Philippe;
Müller, Hans-Peter;
Bucher, Selina;
Kaulisch, Thomas;
Niessen, Heiko G.;
Tillmanns, Julia;
Fischer, Kristina;
Schwalenstöcker, Birgit;
Kassubek, Jan;
Pichler, Bernd;
Stiller, Detlef;
Petersen, Åsa

Publication type:

Article

Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4409, doi. 10.1093/hmg/ddq364

By:

Teng, Yong;
Xie, Xiayang;
Walker, Steven;
Rempala, Grzegorz;
Kozlowski, David J.;
Mumm, Jeff S.;
Cowell, John K.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 22, p. NP, doi. 10.1093/hmg/ddq447
Publication type:: Article

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 22, p. 4313, doi. 10.1093/hmg/ddq352

By:

Rios, Jonathan;
Stein, Evan;
Shendure, Jay;
Hobbs, Helen H.;
Cohen, Jonathan C.

Publication type:

Article