Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 20

Results: 19

Blocking acid-sensing ion channel 1 alleviates Huntington's disease pathology via an ubiquitin-proteasome system-dependent mechanism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3223, doi. 10.1093/hmg/ddn218

By:

Wong, Hon Kit;
Bauer, Peter O.;
Kurosawa, Masaru;
Goswami, Anand;
Washizu, Chika;
Machida, Yoko;
Tosaki, Asako;
Yamada, Mizuki;
Knöpfel, Thomas;
Nakamura, Takemichi;
Nukina, Nobuyuki

Publication type:

Article

Compensatory changes in the ubiquitin–proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3144, doi. 10.1093/hmg/ddn211

By:

Seo, Hyemyung;
Kim, Woori;
Isacson, Ole

Publication type:

Article

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3180, doi. 10.1093/hmg/ddn214

By:

Sobolewski, Anastasia;
Rudarakanchana, Nung;
Upton, Paul D.;
Yang, Jun;
Crilley, Trina K.;
Trembath, Richard C.;
Morrell, Nicholas W.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 20, p. NP, doi. 10.1093/hmg/ddn315
Publication type:: Article

Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3236, doi. 10.1093/hmg/ddn219

By:

Linder, Bastian;
Plöttner, Oliver;
Kroiss, Matthias;
Hartmann, Enno;
Laggerbauer, Bernhard;
Meister, Gunter;
Keidel, Eva;
Fischer, Utz

Publication type:

Article

Polycystin-1 C-terminal tail associates with β-catenin and inhibits canonical Wnt signaling.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3105, doi. 10.1093/hmg/ddn208

By:

Lal, Mark;
Song, Xuewen;
Pluznick, Jennifer L.;
Di Giovanni, Valeria;
Merrick, David M.;
Rosenblum, Norman D.;
Chauvet, Veronique;
Gottardi, Cara J.;
Pei, York;
Caplan, Michael J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 20, p. NP, doi. 10.1093/hmg/ddn314
Publication type:: Article

Neocortical expression of mutant huntingtin is not required for alterations in striatal gene expression or motor dysfunction in a transgenic mouse.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3095, doi. 10.1093/hmg/ddn206

By:

Brown, Timothy B.;
Bogush, Alexey I.;
Ehrlich, Michelle E.

Publication type:

Article

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3118, doi. 10.1093/hmg/ddn209

By:

Benayoun, Bérénice A.;
Caburet, Sandrine;
Dipietromaria, Aurélie;
Bailly-Bechet, Marc;
Batista, Frank;
Fellous, Marc;
Vaiman, Daniel;
Veitia, Reiner A.

Publication type:

Article

Mice lacking the schizophrenia-associated protein FEZ1 manifest hyperactivity and enhanced responsiveness to psychostimulants.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3191, doi. 10.1093/hmg/ddn215

By:

Sakae, Nobutaka;
Yamasaki, Nobuyuki;
Kitaichi, Kiyoyuki;
Fukuda, Takaichi;
Yamada, Mitsunori;
Yoshikawa, Hiroo;
Hiranita, Takato;
Tatsumi, Yoshiki;
Kira, Jun-ichi;
Yamamoto, Tsuneyuki;
Miyakawa, Tsuyoshi;
Nakayama, Keiichi I.

Publication type:

Article

Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3212, doi. 10.1093/hmg/ddn217

By:

Ikeda, Masashi;
Hikita, Takao;
Taya, Shinichiro;
Uraguchi-Asaki, Junko;
Toyo-oka, Kazuhito;
Wynshaw-Boris, Anthony;
Ujike, Hiroshi;
Inada, Toshiya;
Takao, Keizo;
Miyakawa, Tsuyoshi;
Ozaki, Norio;
Kaibuchi, Kozo;
Iwata, Nakao

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 20, p. NP, doi. 10.1093/hmg/ddn316
Publication type:: Article

Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2α.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3254, doi. 10.1093/hmg/ddn221

By:

Liang, Genqing;
Yang, JungWoo;
Wang, Zuocheng;
Li, Qiang;
Tang, Yan;
Chen, Xing-Zhen

Publication type:

Article

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3247, doi. 10.1093/hmg/ddn220

By:

Stiff, Tom;
Cerosaletti, Karen;
Concannon, Patrick;
O'Driscoll, Mark;
Jeggo, Penny A.

Publication type:

Article

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3154, doi. 10.1093/hmg/ddn212

By:

Frio, Thomas Rio;
Civic, Natacha;
Ransijn, Adriana;
Beckmann, Jacques S.;
Rivolta, Carlo

Publication type:

Article

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3204, doi. 10.1093/hmg/ddn216

By:

Uechi, Tamayo;
Nakajima, Yukari;
Chakraborty, Anirban;
Torihara, Hidetsugu;
Higa, Sayomi;
Kenmochi, Naoya

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 20, p. NP, doi. 10.1093/hmg/ddn317
Publication type:: Article

Parkin deletion causes cerebral and systemic amyloidosis in human mutated tau over-expressing mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3128

By:

Rodríguez-Navarro, Jose A.;
Gómez, Ana;
Rodal, Izaskun;
Perucho, Juan;
Martinez, Armando;
Furió, Vicente;
Ampuero, Israel;
Casarejos, María J.;
Solano, Rosa M.;
de Yébenes, Justo García;
Mena, Maria A.

Publication type:

Article

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3166, doi. 10.1093/hmg/ddn213

By:

Stum, Morgane;
Girard, Emmanuelle;
Bangratz, Marie;
Bernard, Véronique;
Herbin, Marc;
Vignaud, Alban;
Ferry, Arnaud;
Davoine, Claire-Sophie;
Echaniz-Laguna, Andoni;
René, Frédérique;
Marcel, Christophe;
Molgó, Jordi;
Fontaine, Bertrand;
Krejci, Eric;
Nicole, Sophie

Publication type:

Article