Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 6

Results: 20

Association between two µ-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 807, doi. 10.1093/hmg/ddl024

By:

Zhang, Huiping;
Luo, Xingguang;
Kranzler, Henry R.;
Lappalainen, Jaakko;
Yang, Bao-Zhu;
Krupitsky, Evgeny;
Zvartau, Edwin;
Gelernter, Joel

Publication type:

Article

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 1043, doi. 10.1093/hmg/ddl019

By:

Kearney, Jennifer A.;
Yang, Yan;
Beyer, Barbara;
Bergren, Sarah K.;
Claes, Lieve;
DeJonghe, Peter;
Frankel, Wayne N.

Publication type:

Article

Absence of α7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 989, doi. 10.1093/hmg/ddl018

By:

Guo, Chun;
Willem, Michael;
Werner, Alexander;
Raivich, Gennadij;
Emerson, Michael;
Neyses, Ludwig;
Mayer, Ulrike

Publication type:

Article

Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot–Marie–Tooth disease mutants.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 943, doi. 10.1093/hmg/ddl011

By:

Sasaki, Takahiro;
Gotow, Takahiro;
Shiozaki, Motoko;
Sakaue, Fumika;
Saito, Taro;
Julien, Jean-Pierre;
Uchiyama, Yasuo;
Hisanaga, Shin-Ichi

Publication type:

Article

Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington's disease by ubiquilin.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 1025, doi. 10.1093/hmg/ddl017

By:

Wang, Hongmin;
Lim, Precious J.;
Yin, Chaobo;
Rieckher, Matthias;
Vogel, Bruce E.;
Monteiro, Mervyn J.

Publication type:

Article

MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 933, doi. 10.1093/hmg/ddl010

By:

Storlazzi, Clelia Tiziana;
Fioretos, Thoas;
Surace, Cecilia;
Lonoce, Angelo;
Mastrorilli, Angela;
Strömbeck, Bodil;
D'Addabbo, Pietro;
Iacovelli, Francesco;
Minervini, Crescenzio;
Aventin, Anna;
Dastugue, Nicole;
Fonatsch, Christa;
Hagemeijer, Anne;
Jotterand, Martine;
Mühlematter, Dominique;
Lafage-Pochitaloff, Marina;
Nguyen-Khac, Florence;
Schoch, Claudia;
Slovak, Marilyn L.;
Smith, Arabella

Publication type:

Article

The bradykinin β2 receptor (BDKRB2) and endothelial nitric oxide synthase 3 (NOS3) genes and endurance performance during Ironman Triathlons.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 979, doi. 10.1093/hmg/ddl014

By:

Saunders, Colleen J.;
Xenophontos, Stavroulla L.;
Cariolou, Marios A.;
Anastassiades, Lakis C.;
Noakes, Timothy D.;
Collins, Malcolm

Publication type:

Article

Regional and cellular gene expression changes in human Huntington's disease brain.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 965, doi. 10.1093/hmg/ddl013

By:

Hodges, Angela;
Strand, Andrew D.;
Aragaki, Aaron K.;
Kuhn, Alexandre;
Sengstag, Thierry;
Hughes, Gareth;
Elliston, Lyn A.;
Hartog, Cathy;
Goldstein, Darlene R.;
Thu, Doris;
Hollingsworth, Zane R.;
Collin, Francois;
Synek, Beth;
Holmans, Peter A.;
Young, Anne B.;
Wexler, Nancy S.;
Delorenzi, Mauro;
Kooperberg, Charles;
Augood, Sarah J.;
Faull, Richard L.M.

Publication type:

Article

The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron–sulfur cluster biogenesis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 953

By:

Pondarré, Corinne;
Antiochos, Brendan B.;
Campagna, Dean R.;
Clarke, Stephen L.;
Greer, Eric L.;
Deck, Kathryn M.;
McDonald, Alice;
Han, An-Ping;
Medlock, Amy;
Kutok, Jeffery L.;
Anderson, Sheila A.;
Eisenstein, Richard S.;
Fleming, Mark D.

Publication type:

Article

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 1015, doi. 10.1093/hmg/ddl016

By:

Maertens, Ophélia;
Prenen, Hans;
Debiec-Rychter, Maria;
Wozniak, Agnieszka;
Sciot, Raf;
Pauwels, Patrick;
De Wever, Ivo;
Vermeesch, Joris R.;
de Raedt, Thomas;
De Paepe, Anne;
Speleman, Frank;
van Oosterom, Allan;
Messiaen, Ludwine;
Legius, Eric

Publication type:

Article

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 999, doi. 10.1093/hmg/ddl015

By:

Disset, A.;
Bourgeois, C.F.;
Benmalek, N.;
Claustres, M.;
Stevenin, J.;
Tuffery-Giraud, Sylvie

Publication type:

Article

Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 921, doi. 10.1093/hmg/ddl009

By:

Elhaji, Youssef A.;
Stoica, Ileana;
Dennis, Sheldon;
Purisima, Enrico O.;
Trifiro, Mark A.

Publication type:

Article

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 905, doi. 10.1093/hmg/ddl008

By:

Berry, Fred B.;
Lines, Matthew A.;
Oas, J. Martin;
Footz, Tim;
Underhill, D. Alan;
Gage, Philip J.;
Walter, Michael A.

Publication type:

Article

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 897, doi. 10.1093/hmg/ddl007

By:

Kirino, Yohei;
Yasukawa, Takehiro;
Marjavaara, Sanna K.;
Jacobs, Howard T.;
Holt, Ian J.;
Watanabe, Kimitsuna;
Suzuki, Tsutomu

Publication type:

Article

Parkin enhances mitochondrial biogenesis in proliferating cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 883, doi. 10.1093/hmg/ddl006

By:

Kuroda, Yukiko;
Mitsui, Takao;
Kunishige, Makoto;
Shono, Masayuki;
Akaike, Masashi;
Azuma, Hiroyuki;
Matsumoto, Toshio

Publication type:

Article

Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 871, doi. 10.1093/hmg/ddl005

By:

Kasahara, Atsuko;
Ishikawa, Kaori;
Yamaoka, Makiko;
Ito, Masahito;
Watanabe, Naoki;
Akimoto, Miho;
Sato, Akitsugu;
Nakada, Kazuto;
Endo, Hitoshi;
Suda, Yoko;
Aizawa, Shinichi;
Hayashi, Jun-Ichi

Publication type:

Article

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 853, doi. 10.1093/hmg/ddl004

By:

Baron, Colin A.;
Tepper, Clifford G.;
Liu, Stephenie Y.;
Davis, Ryan R.;
Wang, Nicholas J.;
Schanen, N. Carolyn;
Gregg, Jeffrey P.

Publication type:

Article

Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 839, doi. 10.1093/hmg/ddl003

By:

Correa-Cerro, Lina S.;
Wassif, Christopher A.;
Kratz, Lisa;
Miller, Georgina F.;
Munasinghe, Jeeva P.;
Grinberg, Alexander;
Fliesler, Steven J.;
Porter, Forbes D.

Publication type:

Article

A role for Brca1 in chromosome end maintenance.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 831, doi. 10.1093/hmg/ddl002

By:

McPherson, J. Peter;
Hande, M. Prakash;
Poonepalli, Anuradha;
Lemmers, Benedicte;
Zablocki, Elzbieta;
Migon, Eva;
Shehabeldin, Amro;
Porras, Annaliza;
Karaskova, Jana;
Vukovic, Bisera;
Squire, Jeremy;
Hakem, Razqallah

Publication type:

Article

Imprinted DLK1 is a putative tumor suppressor gene and inactivated by epimutation at the region upstream of GTL2 in human renal cell carcinoma.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 6, p. 821, doi. 10.1093/hmg/ddl001

By:

Kawakami, Takahiro;
Chano, Tokuhiro;
Minami, Kahori;
Okabe, Hidetoshi;
Okada, Yusaku;
Okamoto, Keisei

Publication type:

Article