Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 9

Results: 24

Hypoxia-inducible factor 1a is a Tsc1-regulated survival factor in newborn neurons in tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1725, doi. 10.1093/hmg/ddt018

By:

Feliciano, David M.;
Zhang, Shiliang;
Quon, Jennifer L.;
Bordey, Angélique

Publication type:

Article

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1843, doi. 10.1093/hmg/ddt037

By:

Cobb, Melissa S.;
Rose, Ferril F.;
Rindt, Hansjörg;
Glascock, Jacqueline J.;
Shababi, Monir;
Miller, Madeline R.;
Osman, Erkan Y.;
Yen, Pei-Fen;
Garcia, Michael L.;
Martin, Brittanie R.;
Wetz, Mary J.;
Mazzasette, Chiara;
Feng, Zhihua;
Ko, Chien-Ping;
Lorson, Christian L.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 9, p. NP, doi. 10.1093/hmg/ddt151
Publication type:: Article

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1873, doi. 10.1093/hmg/ddt041

By:

Khonsari, Roman H.;
Ohazama, Atsushi;
Raouf, Ramin;
Kawasaki, Maiko;
Kawasaki, Katsushige;
Porntaveetus, Thantrira;
Ghafoor, Sarah;
Hammond, Peter;
Suttie, Michael;
Odri, Guillaume A.;
Sandford, Richard N.;
Wood, John N.;
Sharpe, Paul T.

Publication type:

Article

Hdac6 deletion delays disease progression in the SOD1G93A mouse model of ALS.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1783, doi. 10.1093/hmg/ddt028

By:

Taes, Ines;
Timmers, Mieke;
Hersmus, Nicole;
Bento-Abreu, André;
Van Den Bosch, Ludo;
Van Damme, Philip;
Auwerx, Johan;
Robberecht, Wim

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 9, p. NP, doi. 10.1093/hmg/ddt153
Publication type:: Article

Low p14ARF expression in neuroblastoma cells is associated with repressed histone mark status, and enforced expression induces growth arrest and apoptosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1735, doi. 10.1093/hmg/ddt020

By:

Dreidax, Daniel;
Gogolin, Sina;
Schroeder, Christina;
Muth, Daniel;
Brueckner, Lena Marie;
Hess, Elisa Maria;
Zapatka, Marc;
Theißen, Jessica;
Fischer, Matthias;
Ehemann, Volker;
Schwab, Manfred;
Savelyeva, Larissa;
Westermann, Frank

Publication type:

Article

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1856, doi. 10.1093/hmg/ddt038

By:

Joubert, Romain;
Vignaud, Alban;
Le, Mickaël;
Moal, Christelle;
Messaddeq, Nadia;
Buj-Bello, Anna

Publication type:

Article

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot–Marie–Tooth disease type 1C.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1755, doi. 10.1093/hmg/ddt022

By:

Lee, Samuel M.;
Sha, Di;
Mohammed, Anum A.;
Asress, Seneshaw;
Glass, Jonathan D.;
Chin, Lih-Shen;
Li, Lian

Publication type:

Article

A critical role of astrocyte-mediated nuclear factor-κB-dependent inflammation in Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1826, doi. 10.1093/hmg/ddt036

By:

Hsiao, Han-Yun;
Chen, Yu-Chen;
Chen, Hui-Mei;
Tu, Pang-Hsien;
Chern, Yijuang

Publication type:

Article

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035

By:

Nguyen, Lam S.;
Kim, Hyung-Goo;
Rosenfeld, Jill A.;
Shen, Yiping;
Gusella, James F.;
Lacassie, Yves;
Layman, Lawrence C.;
Shaffer, Lisa G.;
Gécz, Jozef

Publication type:

Article

Novel locus including FGF21 is associated with dietary macronutrient intake.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1895, doi. 10.1093/hmg/ddt032

By:

Chu, Audrey Y.;
Workalemahu, Tsegaselassie;
Paynter, Nina P.;
Rose, Lynda M.;
Giulianini, Franco;
Tanaka, Toshiko;
Ngwa, Julius S.;
Qi, Qibin;
Curhan, Gary C.;
Rimm, Eric B.;
Hunter, David J.;
Pasquale, Louis R.;
Ridker, Paul M.;
Hu, Frank B.;
Chasman, Daniel I.;
Qi, Lu

Publication type:

Article

The genome-defence gene Tex19.1 suppresses LINE-1 retrotransposons in the placenta and prevents intra-uterine growth retardation in mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1791, doi. 10.1093/hmg/ddt029

By:

Reichmann, Judith;
Reddington, James P.;
Best, Diana;
Read, David;
Öllinger, Rupert;
Meehan, Richard R.;
Adams, Ian R.

Publication type:

Article

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1867, doi. 10.1093/hmg/ddt040

By:

Monnot, Sophie;
Samuels, David C.;
Hesters, Laetitia;
Frydman, Nelly;
Gigarel, Nadine;
Burlet, Philippe;
Kerbrat, Violaine;
Lamazou, Frédéric;
Frydman, René;
Benachi, Alexandra;
Feingold, Josué;
Rotig, Agnes;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Steffann, Julie

Publication type:

Article

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021

By:

Buysse, Karen;
Riemersma, Moniek;
Powell, Gareth;
van Reeuwijk, Jeroen;
Chitayat, David;
Roscioli, Tony;
Kamsteeg, Erik-Jan;
van den Elzen, Christa;
van Beusekom, Ellen;
Blaser, Susan;
Babul-Hirji, Riyana;
Halliday, William;
Wright, Gavin J.;
Stemple, Derek L.;
Lin, Yung-Yao;
Lefeber, Dirk J.;
van Bokhoven, Hans

Publication type:

Article

A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1903

By:

Lane, Jérôme;
McLaren, Paul J.;
Dorrell, Lucy;
Shianna, Kevin V.;
Stemke, Amanda;
Pelak, Kimberly;
Moore, Stephen;
Oldenburg, Johannes;
Alvarez-Roman, Maria Teresa;
Angelillo-Scherrer, Anne;
Boehlen, Francoise;
Bolton-Maggs, Paula H.B.;
Brand, Brigit;
Brown, Deborah;
Chiang, Elaine;
Cid-Haro, Ana Rosa;
Clotet, Bonaventura;
Collins, Peter;
Colombo, Sara;
Dalmau, Judith

Publication type:

Article

A functional copy number variation in the WWOX gene is associated with lung cancer risk in Chinese.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1886, doi. 10.1093/hmg/ddt019

By:

Yang, Lei;
Liu, Bin;
Huang, Binfang;
Deng, Jieqiong;
Li, Hongbin;
Yu, Bolan;
Qiu, Fuman;
Cheng, Mei;
Wang, Hui;
Yang, Rongrong;
Yang, Xiaorong;
Zhou, Yifeng;
Lu, Jiachun

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 9, p. NP, doi. 10.1093/hmg/ddt154
Publication type:: Article

Role of WT1–ZNF224 interaction in the expression of apoptosis-regulating genes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1771, doi. 10.1093/hmg/ddt027

By:

Montano, Giorgia;
Cesaro, Elena;
Fattore, Luigi;
Vidovic, Karina;
Palladino, Chiara;
Crescitelli, Rossella;
Izzo, Paola;
Turco, Maria Caterina;
Costanzo, Paola

Publication type:

Article

Susceptibility-associated genetic variation at IL12B enhances Th1 polarization in psoriasis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1807, doi. 10.1093/hmg/ddt034

By:

Johnston, Andrew;
Xing, Xianying;
Swindell, William R.;
Kochkodan, James;
Riblett, MaryBeth;
Nair, Rajan P.;
Stuart, Philip E.;
Ding, Jun;
Voorhees, John J.;
Elder, James T.;
Gudjonsson, Johann E.

Publication type:

Article

Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1709, doi. 10.1093/hmg/ddt017

By:

Ahmed, Md. Mahiuddin;
Dhanasekaran, A. Ranjitha;
Tong, Suhong;
Wiseman, Frances K.;
Fisher, Elizabeth M.C.;
Tybulewicz, Victor L.J.;
Gardiner, Katheleen J.

Publication type:

Article

NAD+ salvage pathway proteins suppress proteotoxicity in yeast models of neurodegeneration by promoting the clearance of misfolded/oligomerized proteins.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1699, doi. 10.1093/hmg/ddt016

By:

Ocampo, Alejandro;
Liu, Jingjing;
Barrientos, Antoni

Publication type:

Article

Cystic fibrosis in an era of genomically guided therapy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 9, p. 1911, doi. 10.1093/hmg/ddt045

By:

Barrett, P.M.;
Alagely, A.;
Topol, E.J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 9, p. NP, doi. 10.1093/hmg/ddt152
Publication type:: Article