Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 7

Results: 22

Lens induction requires attenuation of ERK signaling by Nf1.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1315, doi. 10.1093/hmg/ddr014

By:

Carbe, Christian;
Zhang, Xin

Publication type:

Article

Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1375, doi. 10.1093/hmg/ddr019

By:

Farfel-Becker, Tamar;
Vitner, Einat B.;
Pressey, Sarah N.R.;
Eilam, Raya;
Cooper, Jonathan D.;
Futerman, Anthony H.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 7, p. NP, doi. 10.1093/hmg/ddr052
Publication type:: Article

Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic β-cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1274, doi. 10.1093/hmg/ddq568

By:

Hatanaka, Masayuki;
Tanabe, Katsuya;
Yanai, Akie;
Ohta, Yasuharu;
Kondo, Manabu;
Akiyama, Masaru;
Shinoda, Koh;
Oka, Yoshitomo;
Tanizawa, Yukio

Publication type:

Article

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1285

By:

Çalışkan, Minal;
Chong, Jessica X.;
Uricchio, Lawrence;
Anderson, Rebecca;
Chen, Peixian;
Sougnez, Carrie;
Garimella, Kiran;
Gabriel, Stacey B.;
DePristo, Mark A.;
Shakir, Khalid;
Matern, Dietrich;
Das, Soma;
Waggoner, Darrel;
Nicolae, Dan L.;
Ober, Carole

Publication type:

Article

Preventing the ubiquitin–proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1253, doi. 10.1093/hmg/ddq566

By:

Rufini, Alessandra;
Fortuni, Silvia;
Arcuri, Gaetano;
Condò, Ivano;
Serio, Dario;
Incani, Ottaviano;
Malisan, Florence;
Ventura, Natascia;
Testi, Roberto

Publication type:

Article

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1411, doi. 10.1093/hmg/ddr022

By:

Cideciyan, Artur V.;
Rachel, Rivka A.;
Aleman, Tomas S.;
Swider, Malgorzata;
Schwartz, Sharon B.;
Sumaroka, Alexander;
Roman, Alejandro J.;
Stone, Edwin M.;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article

Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1424, doi. 10.1093/hmg/ddr023

By:

Havel, Lauren S.;
Wang, Chuan-En;
Wade, Brandy;
Huang, Brenda;
Li, Shihua;
Li, Xiao-Jiang

Publication type:

Article

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1363, doi. 10.1093/hmg/ddr018

By:

Nativio, Raffaella;
Sparago, Angela;
Ito, Yoko;
Weksberg, Rosanna;
Riccio, Andrea;
Murrell, Adele

Publication type:

Article

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1456, doi. 10.1093/hmg/ddq571

By:

Sharma, Swarkar;
Gao, Xiaochong;
Londono, Douglas;
Devroy, Shonn E.;
Mauldin, Kristen N.;
Frankel, Jessica T.;
Brandon, January M.;
Zhang, Dongping;
Li, Quan-Zhen;
Dobbs, Matthew B.;
Gurnett, Christina A.;
Grant, Struan F.A.;
Hakonarson, Hakon;
Dormans, John P.;
Herring, John A.;
Gordon, Derek;
Wise, Carol A.

Publication type:

Article

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1306, doi. 10.1093/hmg/ddr013

By:

Rix, Suzanne;
Calmont, Amelie;
Scambler, Peter J.;
Beales, Philip L.

Publication type:

Article

Rex1/Zfp42 as an epigenetic regulator for genomic imprinting.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1353, doi. 10.1093/hmg/ddr017

By:

Kim, Jeong Do;
Kim, Hana;
Ekram, Muhammad B.;
Yu, Sungryul;
Faulk, Christopher;
Kim, Joomyeong

Publication type:

Article

Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1324, doi. 10.1093/hmg/ddr015

By:

Kim, Michelle H.;
Kay, Danielle I.;
Rudra, Renuka T.;
Chen, Bo Ming;
Hsu, Nigel;
Izumiya, Yasuhiro;
Martinez, Leonel;
Spencer, Melissa J.;
Walsh, Kenneth;
Grinnell, Alan D.;
Crosbie, Rachelle H.

Publication type:

Article

Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1290, doi. 10.1093/hmg/ddq570

By:

Malhowski, Amy J.;
Hira, Haider;
Bashiruddin, Sarah;
Warburton, Rod;
Goto, June;
Robert, Blanton;
Kwiatkowski, David J.;
Finlay, Geraldine A.

Publication type:

Article

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1400, doi. 10.1093/hmg/ddr021

By:

McDonald, Karli K.;
Aulas, Anaïs;
Destroismaisons, Laurie;
Pickles, Sarah;
Beleac, Evghenia;
Camu, William;
Rouleau, Guy A.;
Vande Velde, Christine

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 7, p. NP, doi. 10.1093/hmg/ddr058
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 7, p. NP, doi. 10.1093/hmg/ddr056
Publication type:: Article

Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1438, doi. 10.1093/hmg/ddr024

By:

Shirendeb, Ulziibat;
Reddy, Arubala P.;
Manczak, Maria;
Calkins, Marcus J.;
Mao, Peizhong;
Tagle, Danilo A.;
Hemachandra Reddy, P.

Publication type:

Article

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1387, doi. 10.1093/hmg/ddr020

By:

Friedrich, Ulrike;
Myers, Connie A.;
Fritsche, Lars G.;
Milenkovich, Andrea;
Wolf, Armin;
Corbo, Joseph C.;
Weber, Bernhard H.F.

Publication type:

Article

Germline competency of parthenogenetic embryonic stem cells from immature oocytes of adult mouse ovary.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1339, doi. 10.1093/hmg/ddr016

By:

Liu, Zhong;
Hu, Zhe;
Pan, Xinghua;
Li, Minshu;
Togun, Taiwo A.;
Tuck, David;
Pelizzola, Mattia;
Huang, Junjiu;
Ye, Xiaoying;
Yin, Yu;
Liu, Mengyuan;
Li, Chao;
Chen, Zhisheng;
Wang, Fang;
Zhou, Lingjun;
Chen, Lingyi;
Keefe, David L.;
Liu, Lin

Publication type:

Article

Identification of direct downstream targets of Dlx5 during early inner ear development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1262, doi. 10.1093/hmg/ddq567

By:

Sajan, Samin A.;
Rubenstein, John L.R.;
Warchol, Mark E.;
Lovett, Michael

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 7, p. NP, doi. 10.1093/hmg/ddr054
Publication type:: Article