Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 6

Results: 25

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1299, doi. 10.1093/hmg/ddr559

By:

De Vos, Kurt J.;
Mórotz, Gábor M.;
Stoica, Radu;
Tudor, Elizabeth L.;
Lau, Kwok-Fai;
Ackerley, Steven;
Warley, Alice;
Shaw, Christopher E.;
Miller, Christopher C.J.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds068
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds067
Publication type:: Article

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1410, doi. 10.1093/hmg/ddr579

By:

Stucki, Martin;
Coelho, David;
Suormala, Terttu;
Burda, Patricie;
Fowler, Brian;
Baumgartner, Matthias R.

Publication type:

Article

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1248, doi. 10.1093/hmg/ddr555

By:

Willaert, Andy;
Khatri, Sandeep;
Callewaert, Bert L.;
Coucke, Paul J.;
Crosby, Seth D.;
Lee, Joseph G. H.;
Davis, Elaine C.;
Shiva, Sruti;
Tsang, Michael;
De Paepe, Anne;
Urban, Zsolt

Publication type:

Article

Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1444, doi. 10.1093/hmg/ddr581

By:

Tukiainen, Taru;
Kettunen, Johannes;
Kangas, Antti J.;
Lyytikäinen, Leo-Pekka;
Soininen, Pasi;
Sarin, Antti-Pekka;
Tikkanen, Emmi;
O'Reilly, Paul F.;
Savolainen, Markku J.;
Kaski, Kimmo;
Pouta, Anneli;
Jula, Antti;
Lehtimäki, Terho;
Kähönen, Mika;
Viikari, Jorma;
Taskinen, Marja-Riitta;
Jauhiainen, Matti;
Eriksson, Johan G.;
Raitakari, Olli;
Salomaa, Veikko

Publication type:

Article

Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1402, doi. 10.1093/hmg/ddr578

By:

Tveten, Kristian;
Holla, Øystein L.;
Cameron, Jamie;
Strøm, Thea Bismo;
Berge, Knut Erik;
Laerdahl, Jon K.;
Leren, Trond P.

Publication type:

Article

A critical role for the PAR-1/MARK-tau axis in mediating the toxic effects of Aβ on synapses and dendritic spines.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1384, doi. 10.1093/hmg/ddr576

By:

Yu, Wendou;
Polepalli, Jai;
Wagh, Dhananjay;
Rajadas, Jayakumar;
Malenka, Robert;
Lu, Bingwei

Publication type:

Article

A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1230, doi. 10.1093/hmg/ddr554

By:

Vyas, Piyush M.;
Tomamichel, Wendy J.;
Pride, P. Melanie;
Babbey, Clifford M.;
Wang, Qiujuan;
Mercier, Jennifer;
Martin, Elizabeth M.;
Payne, R. Mark

Publication type:

Article

Comparative gene expression analysis between coronary arteries and internal mammary arteries identifies a role for the TES gene in endothelial cell functions relevant to coronary artery disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1364, doi. 10.1093/hmg/ddr574

By:

Archacki, Stephen R.;
Angheloiu, George;
Moravec, Christine S.;
Liu, Hui;
Topol, Eric J.;
Wang, Qing Kenneth

Publication type:

Article

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1287, doi. 10.1093/hmg/ddr558

By:

Rode, Baptiste;
Dirami, Thassadite;
Bakouh, Naziha;
Rizk-Rabin, Marthe;
Norez, Caroline;
Lhuillier, Pierre;
Lorès, Patrick;
Jollivet, Mathilde;
Melin, Patricia;
Zvetkova, Ilona;
Bienvenu, Thierry;
Becq, Frédéric;
Planelles, Gabrielle;
Edelman, Aleksander;
Gacon, Gérard;
Touré, Aminata

Publication type:

Article

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1260, doi. 10.1093/hmg/ddr556

By:

Fusco, Francesca;
Paciolla, Mariateresa;
Napolitano, Federico;
Pescatore, Alessandra;
D'Addario, Irene;
Bal, Elodie;
Lioi, Maria Brigida;
Smahi, Asma;
Miano, Maria Giuseppina;
Ursini, Matilde Valeria

Publication type:

Article

Long-term memory deficits in Huntington's disease are associated with reduced CBP histone acetylase activity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1203, doi. 10.1093/hmg/ddr552

By:

Giralt, A.;
Puigdellívol, M.;
Carretón, O.;
Paoletti, P.;
Valero, J.;
Parra-Damas, A.;
Saura, C.A.;
Alberch, J.;
Ginés, S.

Publication type:

Article

Genetic associations with lipoprotein subfractions provide information on their biological nature.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1433, doi. 10.1093/hmg/ddr580

By:

Petersen, Ann-Kristin;
Stark, Klaus;
Musameh, Muntaser D.;
Nelson, Christopher P.;
Römisch-Margl, Werner;
Kremer, Werner;
Raffler, Johannes;
Krug, Susanne;
Skurk, Thomas;
Rist, Manuela J.;
Daniel, Hannelore;
Hauner, Hans;
Adamski, Jerzy;
Tomaszewski, Maciej;
Döring, Angela;
Peters, Annette;
Wichmann, H.-Erich;
Kaess, Bernhard M.;
Kalbitzer, Hans Robert;
Huber, Fritz

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds069
Publication type:: Article

Variants in ASB10 are associated with open-angle glaucoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1336, doi. 10.1093/hmg/ddr572

By:

Pasutto, Francesca;
Keller, Kate E.;
Weisschuh, Nicole;
Sticht, Heinrich;
Samples, John R.;
Yang, Yong-Feng;
Zenkel, Matthias;
Schlötzer-Schrehardt, Ursula;
Mardin, Christian Y.;
Frezzotti, Paolo;
Edmunds, Beth;
Kramer, Patricia L.;
Gramer, Eugen;
Reis, André;
Acott, Ted S.;
Wirtz, Mary K.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 6, p. NP, doi. 10.1093/hmg/dds066
Publication type:: Article

Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1325, doi. 10.1093/hmg/ddr569

By:

Zhou, Xiaobo;
Baron, Rebecca M.;
Hardin, Megan;
Cho, Michael H.;
Zielinski, Jan;
Hawrylkiewicz, Iwona;
Sliwinski, Pawel;
Hersh, Craig P.;
Mancini, John D.;
Lu, Ke;
Thibault, Derek;
Donahue, Amy L.;
Klanderman, Barbara J.;
Rosner, Bernard;
Raby, Benjamin A.;
Lu, Quan;
Geldart, Adriana M.;
Layne, Matthew D.;
Perrella, Mark A.;
Weiss, Scott T.

Publication type:

Article

Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1419, doi. 10.1093/hmg/ddr570

By:

Chen, Christina T. L.;
Fernández-Rhodes, Lindsay;
Brzyski, Robert G.;
Carlson, Christopher S.;
Chen, Zhao;
Heiss, Gerardo;
North, Kari E.;
Woods, Nancy F.;
Rajkovic, Aleksandar;
Kooperberg, Charles;
Franceschini, Nora

Publication type:

Article

A meckelin–filamin A interaction mediates ciliogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1272, doi. 10.1093/hmg/ddr557

By:

Adams, Matthew;
Simms, Roslyn J.;
Abdelhamed, Zakia;
Dawe, Helen R.;
Szymanska, Katarzyna;
Logan, Clare V.;
Wheway, Gabrielle;
Pitt, Eva;
Gull, Keith;
Knowles, Margaret A.;
Blair, Edward;
Cross, Sally H.;
Sayer, John A.;
Johnson, Colin A.

Publication type:

Article

ES cell differentiation system recapitulates the establishment of imprinted gene expression in a cell-type-specific manner.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1391, doi. 10.1093/hmg/ddr577

By:

Kohama, Chihiro;
Kato, Hidemasa;
Numata, Koji;
Hirose, Michiko;
Takemasa, Tohru;
Ogura, Atsuo;
Kiyosawa, Hidenori

Publication type:

Article

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1312, doi. 10.1093/hmg/ddr568

By:

Tang, Zhen Zhi;
Yarotskyy, Viktor;
Wei, Lan;
Sobczak, Krzysztof;
Nakamori, Masayuki;
Eichinger, Katy;
Moxley, Richard T.;
Dirksen, Robert T.;
Thornton, Charles A.

Publication type:

Article

Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1217, doi. 10.1093/hmg/ddr553

By:

Mesbah, Karim;
Rana, M. Sameer;
Francou, Alexandre;
van Duijvenboden, Karel;
Papaioannou, Virginia E.;
Moorman, Antoon F.;
Kelly, Robert G.;
Christoffels, Vincent M.

Publication type:

Article

Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1374, doi. 10.1093/hmg/ddr575

By:

Humphreys, Ryan;
Zheng, Wei;
Prince, Lawrence S;
Qu, Xianghu;
Brown, Christopher;
Loomes, Kathleen;
Huppert, Stacey S.;
Baldwin, Scott;
Goudy, Steven

Publication type:

Article

Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 6, p. 1350, doi. 10.1093/hmg/ddr573

By:

Dodson, Mark W.;
Zhang, Ting;
Jiang, Changan;
Chen, Shengdi;
Guo, Ming

Publication type:

Article