Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 8

Results: 13

PGC-1α/β upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 993, doi. 10.1093/hmg/ddm045

By:

Srivastava, Sarika;
Barrett, John N.;
Moraes, Carlos T.

Publication type:

Article

Polyductin undergoes notch-like processing and regulated release from primary cilia.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 942, doi. 10.1093/hmg/ddm039

By:

Kaimori, Jun-ya;
Nagasawa, Yasuyuki;
Menezes, Luis F.;
Garcia-Gonzalez, Miguel A.;
Deng, Jie;
Imai, Enyu;
Onuchic, Luiz F.;
Guay-Woodford, Lisa M.;
Germino, Gregory G.

Publication type:

Article

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 1006, doi. 10.1093/hmg/ddm044

By:

Kramerova, I.;
Kudryashova, E.;
Venkatraman, G.;
Spencer, M.J.

Publication type:

Article

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and α-hydroxy ceramide accumulation, and altered prosaposin trafficking.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 957, doi. 10.1093/hmg/ddm040

By:

Sun, Ying;
Witte, David P.;
Zamzow, Matt;
Ran, Huimin;
Quinn, Brian;
Matsuda, Junko;
Grabowski, Gregory A.

Publication type:

Article

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 982, doi. 10.1093/hmg/ddm042

By:

Monet, Marie;
Domenga, Valérie;
Lemaire, Barbara;
Souilhol, Céline;
Langa, Francina;
Babinet, Charles;
Gridley, Thomas;
Tournier-Lasserve, Elisabeth;
Cohen-Tannoudji, Michel;
Joutel, Anne

Publication type:

Article

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 919, doi. 10.1093/hmg/ddm037

By:

Weihl, Conrad C.;
Miller, Sara E.;
Hanson, Phyllis I.;
Pestronk, Alan

Publication type:

Article

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 907, doi. 10.1093/hmg/ddm035

By:

Whiteman, Pat;
Willis, Antony C.;
Warner, Andrew;
Brown, James;
Redfield, Christina;
Handford, Penny A.

Publication type:

Article

Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 972, doi. 10.1093/hmg/ddm041

By:

Valleley, Elizabeth M.;
Cordery, Sarah F.;
Bonthron, David T.

Publication type:

Article

Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 865, doi. 10.1093/hmg/ddm031

By:

Grupe, Andrew;
Abraham, Richard;
Li, Yonghong;
Rowland, Charles;
Hollingworth, Paul;
Morgan, Angharad;
Jehu, Luke;
Segurado, Ricardo;
Stone, David;
Schadt, Eric;
Karnoub, Maha;
Nowotny, Petra;
Tacey, Kristina;
Catanese, Joseph;
Sninsky, John;
Brayne, Carol;
Rubinsztein, David;
Gill, Michael;
Lawlor, Brian;
Lovestone, Simon

Publication type:

Article

Multiple roles for neurofibromin in skeletal development and growth.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 874, doi. 10.1093/hmg/ddm032

By:

Kolanczyk, Mateusz;
Kossler, Nadine;
Kühnisch, Jirko;
Lavitas, Liron;
Stricker, Sigmar;
Wilkening, Ulrich;
Manjubala, Inderchand;
Fratzl, Peter;
Spörle, Ralf;
Herrmann, Bernhard G.;
Parada, Luis F.;
Kornak, Uwe;
Mundlos, Stefan

Publication type:

Article

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 900, doi. 10.1093/hmg/ddm034

By:

Bendahhou, Saïd;
Fournier, Emmanuel;
Gallet, Serge;
Ménard, Dominique;
Larroque, Marie-Madeleine;
Barhanin, Jacques

Publication type:

Article

Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 887, doi. 10.1093/hmg/ddm033

By:

Baessler, Andrea;
Fischer, Marcus;
Mayer, Bjoern;
Koehler, Martina;
Wiedmann, Silke;
Stark, Klaus;
Doering, Angela;
Erdmann, Jeanette;
Riegger, Guenter;
Schunkert, Heribert;
Kwitek, Anne E.;
Hengstenberg, Christian

Publication type:

Article

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 8, p. 929, doi. 10.1093/hmg/ddm038

By:

Shan, Yuxi;
Napoli, Eleonora;
Cortopassi, Gino

Publication type:

Article