Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 24

Results: 24

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3987, doi. 10.1093/hmg/ddn302

By:

Moosajee, Mariya;
Gregory-Evans, Kevin;
Ellis, Charles D.;
Seabra, Miguel C.;
Gregory-Evans, Cheryl Y.

Publication type:

Article

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3847, doi. 10.1093/hmg/ddn283

By:

Knight, Melanie A.;
Hernandez, Dena;
Diede, Scott J.;
Dauwerse, Hans G.;
Rafferty, Ian;
van de Leemput, Joyce;
Forrest, Susan M.;
Gardner, R.J.McKinlay;
Storey, Elsdon;
van Ommen, Gert-Jan B.;
Tapscott, Stephen J.;
Fischbeck, Kenneth H.;
Singleton, Andrew B.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 24, p. NP, doi. 10.1093/hmg/ddn391
Publication type:: Article

Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3864, doi. 10.1093/hmg/ddn286

By:

Segditsas, Stefania;
Sieber, Oliver;
Deheragoda, Maesha;
East, Phil;
Rowan, Andrew;
Jeffery, Rosemary;
Nye, Emma;
Clark, Susan;
Spencer-Dene, Bradley;
Stamp, Gordon;
Poulsom, Richard;
Suraweera, Nirosha;
Silver, Andrew;
Ilyas, Mohammad;
Tomlinson, Ian

Publication type:

Article

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 4001, doi. 10.1093/hmg/ddn303

By:

Pello, Rosa;
Martín, Miguel A.;
Carelli, Valerio;
Nijtmans, Leo G.;
Achilli, Alessandro;
Pala, Maria;
Torroni, Antonio;
Gómez-Durán, Aurora;
Ruiz-Pesini, Eduardo;
Martinuzzi, Andrea;
Smeitink, Jan A.;
Arenas, Joaquín;
Ugalde, Cristina

Publication type:

Article

Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3837, doi. 10.1093/hmg/ddn281

By:

Zala, Diana;
Colin, Emilie;
Rangone, Hélène;
Liot, Géraldine;
Humbert, Sandrine;
Saudou, Frédéric

Publication type:

Article

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3897, doi. 10.1093/hmg/ddn292

By:

Raben, Nina;
Hill, Victoria;
Shea, Lauren;
Takikita, Shoichi;
Baum, Rebecca;
Mizushima, Noboru;
Ralston, Evelyn;
Plotz, Paul

Publication type:

Article

Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3909, doi. 10.1093/hmg/ddn293

By:

Yin, HaiFang;
Moulton, Hong M.;
Seow, Yiqi;
Boyd, Corinne;
Boutilier, Jordan;
Iverson, Patrick;
Wood, Matthew J.A.

Publication type:

Article

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3876, doi. 10.1093/hmg/ddn290

By:

Douillard-Guilloux, Gaelle;
Raben, Nina;
Takikita, Shoichi;
Batista, Lionel;
Caillaud, Catherine;
Richard, Emmanuel

Publication type:

Article

CHIP deletion reveals functional redundancy of E3 ligases in promoting degradation of both signaling proteins and expanded glutamine proteins.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3942, doi. 10.1093/hmg/ddn296

By:

Morishima, Yoshihiro;
Wang, Adrienne M.;
Yu, Zhigang;
Pratt, William B.;
Osawa, Yoichi;
Lieberman, Andrew P.

Publication type:

Article

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 4022, doi. 10.1093/hmg/ddn305

By:

Masuda, Akio;
Shen, Xin-Ming;
Ito, Mikako;
Matsuura, Tohru;
Engel, Andrew G.;
Ohno, Kinji

Publication type:

Article

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 4045, doi. 10.1093/hmg/ddn307

By:

Bassett, Anne S.;
Marshall, Christian R.;
Lionel, Anath C.;
Chow, Eva W.C.;
Scherer, Stephen W.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 24, p. NP, doi. 10.1093/hmg/ddn393
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 24, p. NP, doi. 10.1093/hmg/ddn392
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 24, p. NP, doi. 10.1093/hmg/ddn390
Publication type:: Article

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3953, doi. 10.1093/hmg/ddn297

By:

Pitera, Jolanta E.;
Scambler, Peter J.;
Woolf, Adrian S.

Publication type:

Article

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3965

By:

Piton, Amélie;
Michaud, Jacques L.;
Peng, Huashan;
Aradhya, Swaroop;
Gauthier, Julie;
Mottron, Laurent;
Champagne, Nathalie;
Lafrenière, Ronald G.;
Hamdan, Fadi F.;
Joober, Ridha;
Fombonne, Eric;
Marineau, Claude;
Cossette, Patrick;
Dubé, Marie-Pierre;
Haghighi, Pejmun;
Drapeau, Pierre;
Barker, Philip A.;
Carbonetto, Salvatore;
Rouleau, Guy A.

Publication type:

Article

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3929, doi. 10.1093/hmg/ddn295

By:

Chang, Bo;
Mandal, Md Nawajes A.;
Chavali, Venkata R.M.;
Hawes, Norman L.;
Khan, Naheed W.;
Hurd, Ronald E.;
Smith, Richard S.;
Davisson, Muriel L.;
Kopplin, Laura;
Klein, Barbara E.K.;
Klein, Ronald;
Iyengar, Sudha K.;
Heckenlively, John R.;
Ayyagari, Radha

Publication type:

Article

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 4012, doi. 10.1093/hmg/ddn304

By:

Zalloua, Pierre A.;
Azar, Sami T.;
Delépine, Marc;
Makhoul, Nadine J.;
Blanc, Hervé;
Sanyoura, May;
Lavergne, Anne;
Stankov, Karmen;
Lemainque, Arnaud;
Baz, Patrick;
Julier, Cécile

Publication type:

Article

Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3975, doi. 10.1093/hmg/ddn301

By:

Banks, Glen B.;
Combs, Ariana C.;
Chamberlain, Joel R.;
Chamberlain, Jeffrey S.

Publication type:

Article

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3887, doi. 10.1093/hmg/ddn291

By:

Alvarez Retuerto, Ana I.;
Cantor, Rita M.;
Gleeson, Joseph G.;
Ustaszewska, Anna;
Schackwitz, Wendy S.;
Pennacchio, Len A.;
Geschwind, Daniel H.

Publication type:

Article

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3919, doi. 10.1093/hmg/ddn294

By:

Domené, Sabina;
Roessler, Erich;
El-Jaick, Kenia B.;
Snir, Mirit;
Brown, Jamie L.;
Vélez, Jorge I.;
Bale, Sherri;
Lacbawan, Felicitas;
Muenke, Maximilian;
Feldman, Benjamin

Publication type:

Article

Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 4036, doi. 10.1093/hmg/ddn306

By:

Wang, Xiaowen;
Salinas, Kelly;
Zuo, Xiaoming;
Kucejova, Blanka;
Chen, Xin Jie

Publication type:

Article

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3854, doi. 10.1093/hmg/ddn284

By:

Keyser, Britta;
Mühlhausen, Chris;
Dickmanns, Achim;
Christensen, Ernst;
Muschol, Nicole;
Ullrich, Kurt;
Braulke, Thomas

Publication type:

Article