Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 8

Results: 24

Impaired neural development in a zebrafish model for Lowe syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1744, doi. 10.1093/hmg/ddr608

By:

Ramirez, Irene Barinaga-Rementeria;
Pietka, Grzegorz;
Jones, David R.;
Divecha, Nullin;
Alia, A.;
Baraban, Scott C.;
Hurlstone, Adam F. L.;
Lowe, Martin

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds081
Publication type:: Article

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1808, doi. 10.1093/hmg/ddr613

By:

Ashe, Alyson;
Butterfield, Natalie C.;
Town, Liam;
Courtney, Andrew D.;
Cooper, Ashley N.;
Ferguson, Charles;
Barry, Rachael;
Olsson, Fredrik;
Liem, Karel F.;
Parton, Robert G.;
Wainwright, Brandon J.;
Anderson, Kathryn V.;
Whitelaw, Emma;
Wicking, Carol

Publication type:

Article

Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1848, doi. 10.1093/hmg/ddr616

By:

Liu, Chunqiao;
Bakeri, Hirva;
Li, Tiansen;
Swaroop, Anand

Publication type:

Article

Tau's role in the developing brain: implications for intellectual disability.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1681, doi. 10.1093/hmg/ddr603

By:

Sapir, Tamar;
Frotscher, Michael;
Levy, Talia;
Mandelkow, Eva-Maria;
Reiner, Orly

Publication type:

Article

Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1782, doi. 10.1093/hmg/ddr611

By:

Barlow, Amanda J.;
Dixon, Jill;
Dixon, Michael J.;
Trainor, Paul A.

Publication type:

Article

Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1888, doi. 10.1093/hmg/dds002

By:

Quinn, Malgorzata E.;
Haaning, Allison;
Ware, Stephanie M.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds079
Publication type:: Article

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1706, doi. 10.1093/hmg/ddr605

By:

Kurapati, Ramakrishna;
McKenna, Caoimhe;
Lindqvist, Johan;
Williams, Debbie;
Simon, Michelle;
LeProust, Emily;
Baker, Jane;
Cheeseman, Michael;
Carroll, Natalie;
Denny, Paul;
Laval, Steve;
Lochmüller, Hanns;
Ochala, Julien;
Blanco, Gonzalo

Publication type:

Article

parkin-induced defects in neurophysiology and locomotion are generated by metabolic dysfunction and not oxidative stress.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1760, doi. 10.1093/hmg/ddr609

By:

Vincent, Amanda;
Briggs, Laura;
Chatwin, Griff F.J.;
Emery, Elizabeth;
Tomlins, Rose;
Oswald, Matt;
Middleton, C. Adam;
Evans, Gareth J.O.;
Sweeney, Sean T.;
Elliott, Christopher J.H.

Publication type:

Article

Sustained expression of PGC-1α in the rat nigrostriatal system selectively impairs dopaminergic function.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1861, doi. 10.1093/hmg/ddr618

By:

Ciron, C.;
Lengacher, S.;
Dusonchet, J.;
Aebischer, P.;
Schneider, B.L.

Publication type:

Article

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1835, doi. 10.1093/hmg/ddr615

By:

Coon, Brian G.;
Hernandez, Victor;
Madhivanan, Kayalvizhi;
Mukherjee, Debarati;
Hanna, Claudia B.;
Barinaga-Rementeria Ramirez, Irene;
Lowe, Martin;
Beales, Philip L.;
Aguilar, R. Claudio

Publication type:

Article

Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1673, doi. 10.1093/hmg/ddr602

By:

Braun, Sebastian;
Kottwitz, Denise;
Nuber, Ulrike A.

Publication type:

Article

Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1918, doi. 10.1093/hmg/ddr619

By:

Tang, Wei;
Fu, Yi-Ping;
Figueroa, Jonine D.;
Malats, Núria;
Garcia-Closas, Montserrat;
Chatterjee, Nilanjan;
Kogevinas, Manolis;
Baris, Dalsu;
Thun, Michael;
Hall, Jennifer L.;
De Vivo, Immaculata;
Albanes, Demetrius;
Porter-Gill, Patricia;
Purdue, Mark P.;
Burdett, Laurie;
Liu, Luyang;
Hutchinson, Amy;
Myers, Timothy;
Tardón, Adonina;
Serra, Consol

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds080
Publication type:: Article

Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1824, doi. 10.1093/hmg/ddr614

By:

Godavarthi, Swetha K.;
Dey, Parthanarayan;
Maheshwari, Megha;
Ranjan Jana, Nihar

Publication type:

Article

Novel pharmacological chaperones that correct phenylketonuria in mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1877, doi. 10.1093/hmg/dds001

By:

Santos-Sierra, Sandra;
Kirchmair, Johannes;
Perna, Anna M.;
Reiß, Dunja;
Kemter, Kristina;
Röschinger, Wulf;
Glossmann, Hartmut;
Gersting, Søren W.;
Muntau, Ania C.;
Wolber, Gerhard;
Lagler, Florian B.

Publication type:

Article

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1794, doi. 10.1093/hmg/ddr612

By:

Yi, Ling;
Donsante, Anthony;
Kennerson, Marina L.;
Mercer, Julian F.B.;
Garbern, James Y.;
Kaler, Stephen G.

Publication type:

Article

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1897, doi. 10.1093/hmg/ddr607

By:

Mead, Simon;
Uphill, James;
Beck, John;
Poulter, Mark;
Campbell, Tracy;
Lowe, Jessica;
Adamson, Gary;
Hummerich, Holger;
Klopp, Norman;
Rückert, Ina-Maria;
Wichmann, H-Erich;
Azazi, Dhoyazan;
Plagnol, Vincent;
Pako, Wandagi H.;
Whitfield, Jerome;
Alpers, Michael P.;
Whittaker, John;
Balding, David J.;
Zerr, Inga;
Kretzschmar, Hans

Publication type:

Article

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1770, doi. 10.1093/hmg/ddr610

By:

de Pablo-Latorre, Raquel;
Saide, Assunta;
Polishhuck, Elena V.;
Nusco, Edoardo;
Fraldi, Alessandro;
Ballabio, Andrea

Publication type:

Article

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1725, doi. 10.1093/hmg/ddr606

By:

Ramonet, David;
Podhajska, Agata;
Stafa, Klodjan;
Sonnay, Sarah;
Trancikova, Alzbeta;
Tsika, Elpida;
Pletnikova, Olga;
Troncoso, Juan C.;
Glauser, Liliane;
Moore, Darren J.

Publication type:

Article

Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1907, doi. 10.1093/hmg/ddr617

By:

Fejerman, Laura;
Chen, Gary K.;
Eng, Celeste;
Huntsman, Scott;
Hu, Donglei;
Williams, Amy;
Pasaniuc, Bogdan;
John, Esther M.;
Via, Marc;
Gignoux, Christopher;
Ingles, Sue;
Monroe, Kristine R.;
Kolonel, Laurence N.;
Torres-Mejía, Gabriela;
Pérez-Stable, Eliseo J.;
González Burchard, Esteban;
Henderson, Brian E.;
Haiman, Christopher A.;
Ziv, Elad

Publication type:

Article

Silencing of multi-copy HPV16 by viral self-methylation and chromatin occlusion: a model for epigenetic virus–host interaction.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 8, p. 1693, doi. 10.1093/hmg/ddr604

By:

De-Castro Arce, Johanna;
Göckel-Krzikalla, Elke;
Rösl, Frank

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds078
Publication type:: Article