Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 10

Results: 24

Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2068, doi. 10.1093/hmg/ddq079

By:

Reynolds, Chandra A.;
Hong, Mun-Gwan;
Eriksson, Ulrika K.;
Blennow, Kaj;
Wiklund, Fredrik;
Johansson, Boo;
Malmberg, Bo;
Berg, Stig;
Alexeyenko, Andrey;
Grönberg, Henrik;
Gatz, Margaret;
Pedersen, Nancy L.;
Prince, Jonathan A.

Publication type:

Article

An ovine transgenic Huntington's disease model.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1873, doi. 10.1093/hmg/ddq063

By:

Jacobsen, Jessie C.;
Bawden, C. Simon;
Rudiger, Skye R.;
McLaughlan, Clive J.;
Reid, Suzanne J.;
Waldvogel, Henry J.;
MacDonald, Marcy E.;
Gusella, James F.;
Walker, Simon K.;
Kelly, Jennifer M.;
Webb, Graham C.;
Faull, Richard L.M.;
Rees, Mark I.;
Snell, Russell G.

Publication type:

Article

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2005, doi. 10.1093/hmg/ddq082

By:

Fourcade, Stéphane;
Ruiz, Montserrat;
Guilera, Cristina;
Hahnen, Eric;
Brichta, Lars;
Naudi, Alba;
Portero-Otín, Manuel;
Dacremont, Georges;
Cartier, Nathalie;
Wanders, Ronald;
Kemp, Stephan;
Mandel, Jean Louis;
Wirth, Brunhilde;
Pamplona, Reinald;
Aubourg, Patrick;
Pujol, Aurora

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 10, p. NP, doi. 10.1093/hmg/ddq141
Publication type:: Article

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1985, doi. 10.1093/hmg/ddq077

By:

Zaucke, Frank;
Boehnlein, Joana M.;
Steffens, Sarah;
Polishchuk, Roman S.;
Rampoldi, Luca;
Fischer, Andreas;
Pasch, Andreas;
Boehm, Christoph W. A.;
Baasner, Anne;
Attanasio, Massimo;
Hoppe, Bernd;
Hopfer, Helmut;
Beck, Bodo B.;
Sayer, John A.;
Hildebrandt, Friedhelm;
Wolf, Matthias T. F.

Publication type:

Article

Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/− mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1908, doi. 10.1093/hmg/ddq066

By:

Cao, Jiumei;
Gong, Limin;
Guo, Dong-chuan;
Mietzsch, Ulrike;
Kuang, Shao-Qing;
Kwartler, Callie S.;
Safi, Hazim;
Estrera, Anthony;
Gambello, Michael J.;
Milewicz, Dianna M.

Publication type:

Article

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1883, doi. 10.1093/hmg/ddq064

By:

Du, Fang;
Ozdowski, Emily F.;
Kotowski, Ingrid K.;
Marchuk, Douglas A.;
Sherwood, Nina Tang

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 10, p. NP, doi. 10.1093/hmg/ddq140
Publication type:: Article

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2059, doi. 10.1093/hmg/ddq078

By:

Wang, Kai;
Baldassano, Robert;
Zhang, Haitao;
Qu, Hui-Qi;
Imielinski, Marcin;
Kugathasan, Subra;
Annese, Vito;
Dubinsky, Marla;
Rotter, Jerome I.;
Russell, Richard K.;
Bradfield, Jonathan P.;
Sleiman, Patrick M.A.;
Glessner, Joseph T.;
Walters, Thomas;
Hou, Cuiping;
Kim, Cecilia;
Frackelton, Edward C.;
Garris, Maria;
Doran, James;
Romano, Claudio

Publication type:

Article

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2028, doi. 10.1093/hmg/ddq084

By:

Bowl, Michael R.;
Mirczuk, Samantha M.;
Grigorieva, Irina V.;
Piret, Sian E.;
Cranston, Treena;
Southam, Lorraine;
Allgrove, Jeremy;
Bahl, Shailini;
Brain, Caroline;
Loughlin, John;
Mughal, Zulf;
Ryan, Fiona;
Shaw, Nick;
Thakker, Yogini V.;
Tiosano, Dov;
Nesbit, M. Andrew;
Thakker, Rajesh V.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 10, p. NP, doi. 10.1093/hmg/ddq139
Publication type:: Article

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1998

By:

Lesage, Suzanne;
Patin, Etienne;
Condroyer, Christel;
Leutenegger, Anne-Louise;
Lohmann, Ebba;
Giladi, Nir;
Bar-Shira, Anat;
Belarbi, Soraya;
Hecham, Nassima;
Pollak, Pierre;
Ouvrard-Hernandez, Anne-Marie;
Bardien, Soraya;
Carr, Jonathan;
Benhassine, Traki;
Tomiyama, Hiroyuki;
Pirkevi, Caroline;
Hamadouche, Tarik;
Cazeneuve, Cécile;
Basak, A. Nazli;
Hattori, Nobutaka

Publication type:

Article

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2015, doi. 10.1093/hmg/ddq083

By:

Simon, Delphine;
Laloo, Benoit;
Barillot, Malika;
Barnetche, Thomas;
Blanchard, Camille;
Rooryck, Caroline;
Marche, Michèle;
Burgelin, Ingrid;
Coupry, Isabelle;
Chassaing, Nicolas;
Gilbert-Dussardier, Brigitte;
Lacombe, Didier;
Grosset, Christophe;
Arveiler, Benoit

Publication type:

Article

The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal β-actin mRNA translocation in spinal motor neurons.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1951, doi. 10.1093/hmg/ddq073

By:

Glinka, Michael;
Herrmann, Thomas;
Funk, Natalja;
Havlicek, Steven;
Rossoll, Wilfried;
Winkler, Christoph;
Sendtner, Michael

Publication type:

Article

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1897, doi. 10.1093/hmg/ddq065

By:

Lostal, William;
Bartoli, Marc;
Bourg, Nathalie;
Roudaut, Carinne;
Bentaïb, Azeddine;
Miyake, Katsuya;
Guerchet, Nicolas;
Fougerousse, Françoise;
McNeil, Paul;
Richard, Isabelle

Publication type:

Article

Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1921, doi. 10.1093/hmg/ddq067

By:

Fogarty, Marie P.;
Xiao, Rui;
Prokunina-Olsson, Ludmila;
Scott, Laura J.;
Mohlke, Karen L.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 10, p. NP, doi. 10.1093/hmg/ddq138
Publication type:: Article

Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2050, doi. 10.1093/hmg/ddq062

By:

Lange, Leslie A.;
Croteau-Chonka, Damien C.;
Marvelle, Amanda F.;
Qin, Li;
Gaulton, Kyle J.;
Kuzawa, Christopher W.;
McDade, Thomas W.;
Wang, Yunfei;
Li, Yun;
Levy, Shawn;
Borja, Judith B.;
Lange, Ethan M.;
Adair, Linda S.;
Mohlke, Karen L.

Publication type:

Article

Ketogenic diet slows down mitochondrial myopathy progression in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1974, doi. 10.1093/hmg/ddq076

By:

Ahola-Erkkilä, Sofia;
Carroll, Christopher J.;
Peltola-Mjösund, Katja;
Tulkki, Valtteri;
Mattila, Ismo;
Seppänen-Laakso, Tuulikki;
Orešič, Matej;
Tyynismaa, Henna;
Suomalainen, Anu

Publication type:

Article

Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1939, doi. 10.1093/hmg/ddq072

By:

Cristini, Silvia;
Navone, Stefania;
Canzi, Laura;
Acerbi, Francesco;
Ciusani, Emilio;
Hladnik, Uros;
de Gemmis, Paola;
Alessandri, Giulio;
Colombo, Augusto;
Parati, Eugenio;
Invernici, Gloria

Publication type:

Article

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1967, doi. 10.1093/hmg/ddq075

By:

Béna, Frédérique;
Gimelli, Stefania;
Migliavacca, Eugenia;
Brun-Druc, Nathalie;
Buiting, Karin;
Antonarakis, Stylianos E.;
Sharp, Andrew J.

Publication type:

Article

A DNA damage-activated checkpoint kinase phosphorylates tau and enhances tau-induced neurodegeneration.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 1930, doi. 10.1093/hmg/ddq068

By:

Iijima-Ando, Kanae;
Zhao, LiJuan;
Gatt, Anthony;
Shenton, Christopher;
Iijima, Koichi

Publication type:

Article

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2039, doi. 10.1093/hmg/ddq085

By:

Gersting, Søren W.;
Lagler, Florian B.;
Eichinger, Anna;
Kemter, Kristina F.;
Danecka, Marta K.;
Messing, Dunja D.;
Staudigl, Michael;
Domdey, Katharina A.;
Zsifkovits, Clemens;
Fingerhut, Ralph;
Glossmann, Hartmut;
Roscher, Adelbert A.;
Muntau, Ania C.

Publication type:

Article

Common variations in PSMD3–CSF3 and PLCB4 are associated with neutrophil count.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2079, doi. 10.1093/hmg/ddq080

By:

Okada, Yukinori;
Kamatani, Yoichiro;
Takahashi, Atsushi;
Matsuda, Koichi;
Hosono, Naoya;
Ohmiya, Hiroko;
Daigo, Yataro;
Yamamoto, Kazuhiko;
Kubo, Michiaki;
Nakamura, Yusuke;
Kamatani, Naoyuki

Publication type:

Article