Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 17

Results: 22

Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3164, doi. 10.1093/hmg/ddp255

By:

Darnell, Jennifer C.;
Fraser, Claire E.;
Mostovetsky, Olga;
Darnell, Robert B.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 17, p. NP, doi. 10.1093/hmg/ddp343
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 17, p. NP, doi. 10.1093/hmg/ddp341
Publication type:: Article

Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3194, doi. 10.1093/hmg/ddp257

By:

Kramerova, Irina;
Kudryashova, Elena;
Wu, Benjamin;
Germain, Sean;
Vandenborne, Krista;
Romain, Nadine;
Haller, Ronald G.;
Verity, M. Anthony;
Spencer, Melissa J.

Publication type:

Article

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3145, doi. 10.1093/hmg/ddp253

By:

Sumner, Charlotte J.;
Wee, Claribel D.;
Warsing, Leigh C.;
Choe, Dong W.;
Ng, Andrew S.;
Lutz, Cathleen;
Wagner, Kathryn R.

Publication type:

Article

Disc1 regulates granule cell migration in the developing hippocampus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3286, doi. 10.1093/hmg/ddp266

By:

Meyer, Kate D.;
Morris, Jill A.

Publication type:

Article

CK2-dependent phosphorylation determines cellular localization and stability of ataxin-3.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3334, doi. 10.1093/hmg/ddp274

By:

Mueller, Thorsten;
Breuer, Peter;
Schmitt, Ina;
Walter, Jochen;
Evert, Bernd O.;
Wüllner, Ullrich

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 17, p. NP, doi. 10.1093/hmg/ddp342
Publication type:: Article

Functional interaction of mammalian target of rapamycin complexes in regulating mammalian cell size and cell cycle.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3298, doi. 10.1093/hmg/ddp271

By:

Rosner, Margit;
Fuchs, Christiane;
Siegel, Nicol;
Valli, Alessandro;
Hengstschläger, Markus

Publication type:

Article

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3257, doi. 10.1093/hmg/ddp263

By:

de Smith, Adam J.;
Purmann, Carolin;
Walters, Robin G.;
Ellis, Richard J.;
Holder, Susan E.;
Van Haelst, Mieke M.;
Brady, Angela F.;
Fairbrother, Una L.;
Dattani, Mehul;
Keogh, Julia M.;
Henning, Elana;
Yeo, Giles S.H.;
O'Rahilly, Stephen;
Froguel, Philippe;
Farooqi, I. Sadaf;
Blakemore, Alexandra I.F.

Publication type:

Article

Parkin promotes intracellular Aβ1–42 clearance.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3206, doi. 10.1093/hmg/ddp258

By:

Burns, Mark P.;
Zhang, Lihua;
Rebeck, G. William;
Querfurth, Henry W.;
Moussa, Charbel E.-H.

Publication type:

Article

Serine racemase is associated with schizophrenia susceptibility in humans and in a mouse model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3227, doi. 10.1093/hmg/ddp261

By:

Labrie, Viviane;
Fukumura, Ryutaro;
Rastogi, Anjali;
Fick, Laura J.;
Wang, Wei;
Boutros, Paul C.;
Kennedy, James L.;
Semeralul, Mawahib O.;
Lee, Frankie H.;
Baker, Glen B.;
Belsham, Denise D.;
Barger, Steven W.;
Gondo, Yoichi;
Wong, Albert H.C.;
Roder, John C.

Publication type:

Article

DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3178, doi. 10.1093/hmg/ddp256

By:

Gopalakrishnan, Suhasni;
Sullivan, Beth A.;
Trazzi, Stefania;
Della Valle, Giuliano;
Robertson, Keith D.

Publication type:

Article

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3217, doi. 10.1093/hmg/ddp260

By:

Prudencio, Mercedes;
Hart, P. John;
Borchelt, David R.;
Andersen, Peter M.

Publication type:

Article

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3244, doi. 10.1093/hmg/ddp262

By:

Reynders, Ellen;
Foulquier, François;
Leão Teles, Elisa;
Quelhas, Dulce;
Morelle, Willy;
Rabouille, Cathérine;
Annaert, Wim;
Matthijs, Gert

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 17, p. NP, doi. 10.1093/hmg/ddp340
Publication type:: Article

Partial loss of GATA factor Pannier impairs adult heart function in Drosophila.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3153, doi. 10.1093/hmg/ddp254

By:

Qian, Li;
Bodmer, Rolf

Publication type:

Article

Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3274, doi. 10.1093/hmg/ddp265

By:

Cronin, Kenneth D.;
Ge, Dongliang;
Manninger, Paul;
Linnertz, Colton;
Rossoshek, Anna;
Orrison, Bonnie M.;
Bernard, David J.;
El-Agnaf, Omar M.A.;
Schlossmacher, Michael G.;
Nussbaum, Robert L.;
Chiba-Falek, Ornit

Publication type:

Article

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3311, doi. 10.1093/hmg/ddp272

By:

Tammachote, Rachaneekorn;
Hommerding, Cynthia J.;
Sinders, Rachel M.;
Miller, Caroline A.;
Czarnecki, Peter G.;
Leightner, Amanda C.;
Salisbury, Jeffrey L.;
Ward, Christopher J.;
Torres, Vicente E.;
Gattone, Vincent H.;
Harris, Peter C.

Publication type:

Article

Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3344, doi. 10.1093/hmg/ddp259

By:

Zarbock, Ralf;
Hendig, Doris;
Szliska, Christiane;
Kleesiek, Knut;
Götting, Christian

Publication type:

Article

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3324, doi. 10.1093/hmg/ddp273

By:

Dipietromaria, Aurélie;
Benayoun, Bérénice A.;
Todeschini, Anne-Laure;
Rivals, Isabelle;
Bazin, Claude;
Veitia, Reiner A.

Publication type:

Article

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 17, p. 3266, doi. 10.1093/hmg/ddp264

By:

Rodriguez-Martin, Teresa;
Anthony, Karen;
Garcia-Blanco, Mariano A.;
Mansfield, S. Gary;
Anderton, Brian H.;
Gallo, Jean-Marc

Publication type:

Article