Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 2

Results: 19

Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 387, doi. 10.1093/hmg/ddp489

By:

van der Harst, Pim;
Bakker, Stephan J.L.;
de Boer, Rudolf A.;
Wolffenbuttel, Bruce H.R.;
Johnson, Toby;
Caulfield, Mark J.;
Navis, Gerjan

Publication type:

Article

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 299, doi. 10.1093/hmg/ddp497

By:

Garcia-Arocena, Dolores;
Yang, Jane E.;
Brouwer, Judith R.;
Tassone, Flora;
Iwahashi, Christine;
Berry-Kravis, Elizabeth M.;
Goetz, Christopher G.;
Sumis, Allison M.;
Zhou, Lili;
Nguyen, Danh V.;
Campos, Luis;
Howell, Erin;
Ludwig, Anna;
Greco, Claudia;
Willemsen, Rob;
Hagerman, Randi J.;
Hagerman, Paul J.

Publication type:

Article

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 313, doi. 10.1093/hmg/ddp498

By:

Rabin, Stuart J.;
Kim, Jae Mun ‘Hugo’;
Baughn, Michael;
Libby, Ryan T.;
Kim, Young Joo;
Fan, Yuxin;
Libby, Randell T.;
La Spada, Albert;
Stone, Brad;
Ravits, John

Publication type:

Article

The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 250, doi. 10.1093/hmg/ddp484

By:

Reichman, Sacha;
Kalathur, Ravi Kiran Reddy;
Lambard, Sophie;
Aït-Ali, Najate;
Yang, Yanjiang;
Lardenois, Aurélie;
Ripp, Raymond;
Poch, Olivier;
Zack, Donald J.;
Sahel, José-Alain;
Léveillard, Thierry

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 2, p. NP, doi. 10.1093/hmg/ddp547
Publication type:: Article

The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 342, doi. 10.1093/hmg/ddp500

By:

Betts-Henderson, Joanne;
Bartesaghi, Stefano;
Crosier, Moira;
Lindsay, Susan;
Chen, Hai-Lan;
Salomoni, Paolo;
Gottlob, Irene;
Nicotera, Pierluigi

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 2, p. NP, doi. 10.1093/hmg/ddp544
Publication type:: Article

Proteotoxic stress increases nuclear localization of ataxin-3.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 235, doi. 10.1093/hmg/ddp482

By:

Reina, Christopher P.;
Zhong, Xiaoyan;
Pittman, Randall N.

Publication type:

Article

Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 262, doi. 10.1093/hmg/ddp490

By:

del Castillo, Francisco J.;
Cohen-Salmon, Martine;
Charollais, Anne;
Caille, Dorothée;
Lampe, Paul D.;
Chavrier, Philippe;
Meda, Paolo;
Petit, Christine

Publication type:

Article

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 223, doi. 10.1093/hmg/ddp481

By:

Chang, Weizhong;
Barnes, Aileen M.;
Cabral, Wayne A.;
Bodurtha, Joann N.;
Marini, Joan C.

Publication type:

Article

Frataxin interacts with Isu1 through a conserved tryptophan in its β-sheet.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 276, doi. 10.1093/hmg/ddp495

By:

Leidgens, Sébastien;
De Smet, Sébastien;
Foury, Françoise

Publication type:

Article

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 374, doi. 10.1093/hmg/ddp503

By:

D'Aurelio, M.;
Vives-Bauza, C.;
Davidson, M.M.;
Manfredi, G.

Publication type:

Article

PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 217, doi. 10.1093/hmg/ddp480

By:

Loenarz, Christoph;
Ge, Wei;
Coleman, Mathew L.;
Rose, Nathan R.;
Cooper, Christopher D.O.;
Klose, Robert J.;
Ratcliffe, Peter J.;
Schofield, Christopher J.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 2, p. NP, doi. 10.1093/hmg/ddp546
Publication type:: Article

Nesprin 1 is critical for nuclear positioning and anchorage.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 329, doi. 10.1093/hmg/ddp499

By:

Zhang, Jianlin;
Felder, Amanda;
Liu, Yujie;
Guo, Ling T.;
Lange, Stephan;
Dalton, Nancy D.;
Gu, Yusu;
Peterson, Kirk L.;
Mizisin, Andrew P.;
Shelton, G. Diane;
Lieber, Richard L.;
Chen, Ju

Publication type:

Article

Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-κB signaling.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 352, doi. 10.1093/hmg/ddp501

By:

Sha, Di;
Chin, Lih-Shen;
Li, Lian

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 2, p. NP, doi. 10.1093/hmg/ddp545
Publication type:: Article

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 364, doi. 10.1093/hmg/ddp502

By:

Cunningham, David;
Talabere, Tiffany;
Bir, Natalie;
Kennedy, Matthew;
McBride, Kim L.;
Herman, Gail E.

Publication type:

Article

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 287

By:

Ye, Ming;
Berry-Wynne, Karyn M.;
Asai-Coakwell, Mika;
Sundaresan, Periasamy;
Footz, Tim;
French, Curtis R.;
Abitbol, Marc;
Fleisch, Valerie C.;
Corbett, Nathan;
Allison, W. Ted;
Drummond, Garry;
Walter, Michael A.;
Underhill, T. Michael;
Waskiewicz, Andrew J.;
Lehmann, Ordan J.

Publication type:

Article