Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 7

Results: 24

Role of Magmas in protein transport and human mitochondria biogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1248, doi. 10.1093/hmg/ddq002

By:

Sinha, Devanjan;
Joshi, Neha;
Chittoor, Balasubramanyam;
Samji, Priyanka;
D'Silva, Patrick

Publication type:

Article

A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1379, doi. 10.1093/hmg/ddq009

By:

Ingason, Andrés;
Giegling, Ina;
Cichon, Sven;
Hansen, Thomas;
Rasmussen, Henrik B.;
Nielsen, Jimmi;
Jürgens, Gesche;
Muglia, Pierandrea;
Hartmann, Annette M.;
Strengman, Eric;
Vasilescu, Catalina;
Mühleisen, Thomas W.;
Djurovic, Srdjan;
Melle, Ingrid;
Lerer, Bernard;
Möller, Hans-Jürgen;
Francks, Clyde;
Pietiläinen, Olli P.H.;
Lonnqvist, Jouko;
Suvisaari, Jaana

Publication type:

Article

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1221, doi. 10.1093/hmg/ddp592

By:

Condò, Ivano;
Malisan, Florence;
Guccini, Ilaria;
Serio, Dario;
Rufini, Alessandra;
Testi, Roberto

Publication type:

Article

Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1314, doi. 10.1093/hmg/ddq007

By:

Blackwell, Ernest;
Zhang, Xing;
Ceman, Stephanie

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 7, p. NP, doi. 10.1093/hmg/ddq074
Publication type:: Article

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1263, doi. 10.1093/hmg/ddq003

By:

Conlin, Laura K.;
Thiel, Brian D.;
Bonnemann, Carsten G.;
Medne, Livija;
Ernst, Linda M.;
Zackai, Elaine H.;
Deardorff, Matthew A.;
Krantz, Ian D.;
Hakonarson, Hakon;
Spinner, Nancy B.

Publication type:

Article

Extrachromosomal amplification mechanisms in a glioma with amplified sequences from multiple chromosome loci.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1276, doi. 10.1093/hmg/ddq004

By:

Gibaud, Anne;
Vogt, Nicolas;
Hadj-Hamou, Nabila-Sandra;
Meyniel, Jean-Philippe;
Hupé, Philippe;
Debatisse, Michelle;
Malfoy, Bernard

Publication type:

Article

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1302, doi. 10.1093/hmg/ddq006

By:

Sergeev, Y.V.;
Caruso, R.C.;
Meltzer, M.R.;
Smaoui, N.;
MacDonald, I.M.;
Sieving, P.A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 7, p. NP, doi. 10.1093/hmg/ddq071
Publication type:: Article

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1368, doi. 10.1093/hmg/ddq013

By:

Castermans, Dries;
Volders, Karolien;
Crepel, An;
Backx, Liesbeth;
De Vos, Rita;
Freson, Kathleen;
Meulemans, Sandra;
Vermeesch, Joris R.;
Schrander-Stumpel, Connie T.R.M.;
De Rijk, Peter;
Del-Favero, Jurgen;
Van Geet, Chris;
Van De Ven, Wim J.M.;
Steyaert, Jean G.;
Devriendt, Koen;
Creemers, John W.M.

Publication type:

Article

Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1174, doi. 10.1093/hmg/ddp588

By:

Kurbegovic, Almira;
Côté, Olivier;
Couillard, Martin;
Ward, Christopher J.;
Harris, Peter C.;
Trudel, Marie

Publication type:

Article

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1335, doi. 10.1093/hmg/ddq010

By:

Quinlan, Kate G.R.;
Seto, Jane T.;
Turner, Nigel;
Vandebrouck, Aurelie;
Floetenmeyer, Matthias;
Macarthur, Daniel G.;
Raftery, Joanna M.;
Lek, Monkol;
Yang, Nan;
Parton, Robert G.;
Cooney, Gregory J.;
North, Kathryn N.

Publication type:

Article

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1230, doi. 10.1093/hmg/ddq001

By:

Barron, Martin J.;
Brookes, Steven J.;
Kirkham, Jennifer;
Shore, Roger C.;
Hunt, Charlotte;
Mironov, Aleksandr;
Kingswell, Nicola J.;
Maycock, Joanne;
Shuttleworth, C. Adrian;
Dixon, Michael J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 7, p. NP, doi. 10.1093/hmg/ddq069
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 7, p. NP, doi. 10.1093/hmg/ddq070
Publication type:: Article

The utrophin A 5′-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1211, doi. 10.1093/hmg/ddp591

By:

Miura, P.;
Coriati, A.;
Bélanger, G.;
De Repentigny, Y.;
Lee, J.;
Kothary, R.;
Holcik, M.;
Jasmin, B.J.

Publication type:

Article

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1153, doi. 10.1093/hmg/ddp585

By:

Kishore, Shivendra;
Khanna, Amit;
Zhang, Zhaiyi;
Hui, Jingyi;
Balwierz, Piotr J.;
Stefan, Mihaela;
Beach, Carol;
Nicholls, Robert D.;
Zavolan, Mihaela;
Stamm, Stefan

Publication type:

Article

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1358, doi. 10.1093/hmg/ddq012

By:

Evans, R. Jane;
Schwarz, Nele;
Nagel-Wolfrum, Kerstin;
Wolfrum, Uwe;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1324, doi. 10.1093/hmg/ddq008

By:

Kerzendorfer, Claudia;
Whibley, Annabel;
Carpenter, Gillian;
Outwin, Emily;
Chiang, Shih-Chieh;
Turner, Gillian;
Schwartz, Charles;
El-Khamisy, Sherif;
Raymond, F. Lucy;
O'Driscoll, Mark

Publication type:

Article

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1165, doi. 10.1093/hmg/ddp587

By:

Gurnett, Christina A.;
Desruisseau, David M.;
McCall, Kevin;
Choi, Ryan;
Meyer, Zachary I.;
Talerico, Michael;
Miller, Sara E.;
Ju, Jeong-Sun;
Pestronk, Alan;
Connolly, Anne M.;
Druley, Todd E.;
Weihl, Conrad C.;
Dobbs, Mathew B.

Publication type:

Article

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1286, doi. 10.1093/hmg/ddq005

By:

Bleyl, Steven B.;
Saijoh, Yukio;
Bax, Noortje A.M.;
Gittenberger-de Groot, Adriana C.;
Wisse, Lambertus J.;
Chapman, Susan C.;
Hunter, Jennifer;
Shiratori, Hidetaka;
Hamada, Hiroshi;
Yamada, Shigehito;
Shiota, Kohei;
Klewer, Scott E.;
Leppert, Mark F.;
Schoenwolf, Gary C.

Publication type:

Article

Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1347, doi. 10.1093/hmg/ddq011

By:

Jiang, Xiao-Sheng;
Wassif, Christopher A.;
Backlund, Peter S.;
Song, Li;
Holtzclaw, Lynne A.;
Li, Zheng;
Yergey, Alfred L.;
Porter, Forbes D.

Publication type:

Article

Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1199

By:

Su, Nan;
Sun, Qidi;
Li, Can;
Lu, Xiumin;
Qi, Huabing;
Chen, Siyu;
Yang, Jing;
Du, Xiaolan;
Zhao, Ling;
He, Qifen;
Jin, Min;
Shen, Yue;
Chen, Di;
Chen, Lin

Publication type:

Article

CTCF binding is not the epigenetic mark that establishes post-fertilization methylation imprinting in the transgenic H19 ICR.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 7, p. 1190, doi. 10.1093/hmg/ddp589

By:

Matsuzaki, Hitomi;
Okamura, Eiichi;
Fukamizu, Akiyoshi;
Tanimoto, Keiji

Publication type:

Article