Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 2

Results: 22

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 241

By:

Muchir, Antoine;
Shan, Jian;
Bonne, Gisèle;
Lehnart, Stephan E.;
Worman, Howard J.

Publication type:

Article

Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 261

By:

Chao, Michael J.;
Ramagopalan, Sreeram V.;
Herrera, Blanca M.;
Lincoln, Matthew R.;
Dyment, David A.;
Sadovnick, A. Dessa;
Ebers, George C.

Publication type:

Article

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 227

By:

Matsushita, Takehiko;
Wilcox, William R.;
Chan, Yuk Yu;
Kawanami, Aya;
Bükülmez, Hülya;
Balmes, Gener;
Krejci, Pavel;
Mekikian, Pertchoui B.;
Otani, Kazuyuki;
Yamaura, Isakichi;
Warman, Matthew L.;
Givol, David;
Murakami, Shunichi

Publication type:

Article

Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 347

By:

Eijgelsheim, Mark;
Aarnoudse, Adrianus L.H.J.;
Rivadeneira, Fernando;
Kors, Jan A.;
Witteman, Jacqueline C. M.;
Hofman, Albert;
van Duijn, Cornelia M.;
Uitterlinden, André G.;
Stricker, Bruno H.C.

Publication type:

Article

Necdin, a Prader–Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 248

By:

Miller, Nichol L.G.;
Wevrick, Rachel;
Mellon, Pamela L.

Publication type:

Article

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 389

By:

Yu, Yong;
Chu, Po-Yin;
Bowser, David N.;
Keating, Damien J.;
Dubach, Daphne;
Harper, Ian;
Tkalcevic, Josephine;
Finkelstein, David I.;
Pritchard, Melanie A.

Publication type:

Article

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 278, doi. 10.1093/hmg/ddn355

By:

Aydin, Jan;
Andersson, Daniel C.;
Hänninen, Sandra L.;
Wredenberg, Anna;
Tavi, Pasi;
Park, Chan Bae;
Larsson, Nils-Göran;
Bruton, Joseph D.;
Westerblad, Håkan

Publication type:

Article

Lack of replication of association between GIGYF2 variants and Parkinson disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 341

By:

Bras, Jose;
Simón-Sánchez, Javier;
Federoff, Monica;
Morgadinho, Ana;
Januario, Cristina;
Ribeiro, Maria;
Cunha, Luis;
Oliveira, Catarina;
Singleton, Andrew B.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 2, p. NP, doi. 10.1093/hmg/ddp417
Publication type:: Article

MCP-1 promoter variant −362C associated with protection from pulmonary tuberculosis in Ghana, West Africa.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 381

By:

Thye, Thorsten;
Nejentsev, Sergey;
Intemann, Christopher D.;
Browne, Edmund N.;
Chinbuah, Margaret Amanua;
Gyapong, John;
Osei, Ivy;
Owusu-Dabo, Ellis;
Zeitels, Lauren R.;
Herb, Florian;
Horstmann, Rolf D.;
Meyer, Christian G.

Publication type:

Article

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 373, doi. 10.1093/hmg/ddn350

By:

Johansson, Åsa;
Marroni, Fabio;
Hayward, Caroline;
Franklin, Christopher S.;
Kirichenko, Anatoly V.;
Jonasson, Inger;
Hicks, Andrew A.;
Vitart, Veronique;
Isaacs, Aaron;
Axenovich, Tatiana;
Campbell, Susan;
Dunlop, Malcolm G.;
Floyd, Jamie;
Hastie, Nick;
Hofman, Albert;
Knott, Sara;
Kolcic, Ivana;
Pichler, Irene;
Polasek, Ozren;
Rivadeneira, Fernando

Publication type:

Article

Myogenic Akt signaling upregulates the utrophin–glycoprotein complex and promotes sarcolemma stability in muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 318, doi. 10.1093/hmg/ddn358

By:

Peter, Angela K.;
Ko, Christopher Y.;
Kim, Michelle H.;
Hsu, Nigel;
Ouchi, Noriyuki;
Rhie, Suhn;
Izumiya, Yasuhiro;
Zeng, Ling;
Walsh, Kenneth;
Crosbie, Rachelle H.

Publication type:

Article

β-Catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumours.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 213

By:

Kohler, Eva Maria;
Chandra, Shree Harsha Vijaya;
Behrens, Jürgen;
Schneikert, Jean

Publication type:

Article

IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 358

By:

Liu, Siyang;
Wang, Hongjie;
Jin, Yulan;
Podolsky, Robert;
Reddy, MV Prasad Linga;
Pedersen, Jennifer;
Bode, Bruce;
Reed, John;
Steed, Dennis;
Anderson, Steve;
Yang, Ping;
Muir, Andy;
Steed, Leigh;
Hopkins, Diane;
Huang, Yihua;
Purohit, Sharad;
Wang, Cong-Yi;
Steck, Andrea K.;
Montemari, Annalisa;
Eisenbarth, George

Publication type:

Article

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 304, doi. 10.1093/hmg/ddn357

By:

Hauke, Jan;
Riessland, Markus;
Lunke, Sebastian;
Eyüpoglu, Ilker Y.;
Blümcke, Ingmar;
El-Osta, Assam;
Wirth, Brunhilde;
Hahnen, Eric

Publication type:

Article

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 267

By:

Hume, Alistair N.;
Buttgereit, Jens;
Al-Awadhi, Aydah M.;
Al-Suwaidi, Sarah S.;
John, Anne;
Bader, Michael;
Seabra, Miguel C.;
Al-Gazali, Lihadh;
Ali, Bassam R.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 2, p. NP, doi. 10.1093/hmg/ddp418
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 2, p. NP, doi. 10.1093/hmg/ddp419
Publication type:: Article

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 289, doi. 10.1093/hmg/ddn356

By:

Ferrante, Maria I.;
Romio, Leila;
Castro, Silvia;
Collins, John E.;
Goulding, David A.;
Stemple, Derek L.;
Woolf, Adrian S.;
Wilson, Stephen W.

Publication type:

Article

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 328, doi. 10.1093/hmg/ddn359

By:

Goffart, Steffi;
Cooper, Helen M.;
Tyynismaa, Henna;
Wanrooij, Sjoerd;
Suomalainen, Anu;
Spelbrink, Johannes N.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 2, p. NP, doi. 10.1093/hmg/ddp420
Publication type:: Article

Population-specific GSTM1 copy number variation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 2, p. 366, doi. 10.1093/hmg/ddn345

By:

Huang, R. Stephanie;
Chen, Peixian;
Wisel, Steve;
Duan, Shiwei;
Zhang, Wei;
Cook, Edwin H.;
Das, Soma;
Cox, Nancy J.;
Dolan, M. Eileen

Publication type:

Article