Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 11

Results: 25

Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2420, doi. 10.1093/hmg/dds057

By:

Daher, João Paulo L.;
Pletnikova, Olga;
Biskup, Saskia;
Musso, Alessandra;
Gellhaar, Sandra;
Galter, Dagmar;
Troncoso, Juan C.;
Lee, Michael K.;
Dawson, Ted M.;
Dawson, Valina L.;
Moore, Darren J.

Publication type:

Article

Abnormal interaction between the mitochondrial fission protein Drp1 and hyperphosphorylated tau in Alzheimer's disease neurons: implications for mitochondrial dysfunction and neuronal damage.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2538, doi. 10.1093/hmg/dds072

By:

Manczak, Maria;
Reddy, P. Hemachandra

Publication type:

Article

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083

By:

Baradaran-Heravi, Alireza;
Cho, Kyoung Sang;
Tolhuis, Bas;
Sanyal, Mrinmoy;
Morozova, Olena;
Morimoto, Marie;
Elizondo, Leah I.;
Bridgewater, Darren;
Lubieniecka, Joanna;
Beirnes, Kimberly;
Myung, Clara;
Leung, Danny;
Fam, Hok Khim;
Choi, Kunho;
Huang, Yan;
Dionis, Kira Y.;
Zonana, Jonathan;
Keller, Kory;
Stenzel, Peter;
Mayfield, Christy

Publication type:

Article

Suppression of α-synuclein toxicity and vesicle trafficking defects by phosphorylation at S129 in yeast depends on genetic context.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2432, doi. 10.1093/hmg/dds058

By:

Sancenon, Vicente;
Lee, Sue-Ann;
Patrick, Christina;
Griffith, Janice;
Paulino, Amy;
Outeiro, Tiago F.;
Reggiori, Fulvio;
Masliah, Eliezer;
Muchowski, Paul J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 11, p. NP, doi. 10.1093/hmg/dds150
Publication type:: Article

Tbx1 is a negative modulator of Mef2c.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2485, doi. 10.1093/hmg/dds063

By:

Pane, Luna Simona;
Zhang, Zhen;
Ferrentino, Rosa;
Huynh, Tuong;
Cutillo, Luisa;
Baldini, Antonio

Publication type:

Article

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2497, doi. 10.1093/hmg/dds064

By:

Blauw, Hylke M.;
van Rheenen, Wouter;
Koppers, Max;
Van Damme, Philip;
Waibel, Stefan;
Lemmens, Robin;
van Vught, Paul W. J.;
Meyer, Thomas;
Schulte, Claudia;
Gasser, Thomas;
Cuppen, Edwin;
Pasterkamp, R. Jeroen;
Robberecht, Wim;
Ludolph, Albert C.;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2618, doi. 10.1093/hmg/dds085

By:

Huang, Hsiang-Po;
Chen, Pin-Hsun;
Hwu, Wuh-Liang;
Chuang, Ching-Yu;
Chien, Yin-Hsiu;
Stone, Lee;
Chien, Chung-Liang;
Li, Li-Tzu;
Chiang, Shu-Chuan;
Chen, Hsin-Fu;
Ho, Hong-Nerng;
Chen, Chung-Hsuan;
Kuo, Hung-Chih

Publication type:

Article

Tbx1 regulates oral epithelial adhesion and palatal development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2524, doi. 10.1093/hmg/dds071

By:

Funato, Noriko;
Nakamura, Masataka;
Richardson, James A.;
Srivastava, Deepak;
Yanagisawa, Hiromi

Publication type:

Article

Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2559, doi. 10.1093/hmg/dds082

By:

Goyenvalle, Aurélie;
Babbs, Arran;
Wright, Jordan;
Wilkins, Vivienne;
Powell, Dave;
Garcia, Luis;
Davies, Kay E.

Publication type:

Article

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2389, doi. 10.1093/hmg/dds045

By:

Fernandez Alanis, Eugenio;
Pinotti, Mirko;
Dal Mas, Andrea;
Balestra, Dario;
Cavallari, Nicola;
Rogalska, Malgorzata E.;
Bernardi, Francesco;
Pagani, Franco

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 11, p. NP, doi. 10.1093/hmg/dds153
Publication type:: Article

Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2599, doi. 10.1093/hmg/dds086

By:

Matthes, Frank;
Stroobants, Stijn;
Gerlach, Debora;
Wohlenberg, Claudia;
Wessig, Carsten;
Fogh, Jens;
Gieselmann, Volkmar;
Eckhardt, Matthias;
D'Hooge, Rudi;
Matzner, Ulrich

Publication type:

Article

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2412, doi. 10.1093/hmg/dds055

By:

Herdewyn, Sarah;
Zhao, Hui;
Moisse, Matthieu;
Race, Valérie;
Matthijs, Gert;
Reumers, Joke;
Kusters, Benno;
Schelhaas, Helenius J.;
van den Berg, Leonard H.;
Goris, An;
Robberecht, Wim;
Lambrechts, Diether;
Van Damme, Philip

Publication type:

Article

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2610, doi. 10.1093/hmg/dds062

By:

Lin, Xiaoling;
Lu, Daru;
Gao, Yong;
Tao, Sha;
Yang, Xiaobo;
Feng, Junjie;
Tan, Aihua;
Zhang, Haiying;
Hu, Yanling;
Qin, Xue;
Kim, Seong-Tae;
Peng, Tao;
Li, Li;
Mo, Linjian;
Zhang, Shijun;
Trent, Jeffrey M.;
Mo, Zengnan;
Zheng, S. Lilly;
Xu, Jianfeng;
Sun, Jielin

Publication type:

Article

BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2548, doi. 10.1093/hmg/dds073

By:

Nasim, Md Talat;
Ogo, Takeshi;
Chowdhury, Hasnin M.;
Zhao, Lan;
Chen, Chien-nien;
Rhodes, Christopher;
Trembath, Richard C.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 11, p. NP, doi. 10.1093/hmg/dds151
Publication type:: Article

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning†.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2464, doi. 10.1093/hmg/dds060

By:

Brison, Nathalie;
Debeer, Philippe;
Fantini, Sebastian;
Oley, Christine;
Zappavigna, Vincenzo;
Luyten, Frank P.;
Tylzanowski, Przemko

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 11, p. NP, doi. 10.1093/hmg/dds152
Publication type:: Article

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2450, doi. 10.1093/hmg/dds059

By:

Higham, Catherine F.;
Morales, Fernando;
Cobbold, Christina A.;
Haydon, Daniel T.;
Monckton, Darren G.

Publication type:

Article

Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2399, doi. 10.1093/hmg/dds046

By:

Woods, Rima;
Vallero, Roxanne O.;
Golub, Mari S.;
Suarez, Joanne K.;
Ta, Tram Anh;
Yasui, Dag H.;
Chi, Lai-Har;
Kostyniak, Paul J.;
Pessah, Isaac N.;
Berman, Robert F.;
LaSalle, Janine M.

Publication type:

Article

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2588, doi. 10.1093/hmg/dds084

By:

Zheng, Qing Yin;
Scarborough, John D.;
Zheng, Ye;
Yu, Heping;
Choi, Dongseok;
Gillespie, Peter G.

Publication type:

Article

Regulation of parkin and PINK1 by neddylation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2514, doi. 10.1093/hmg/dds070

By:

Choo, Yeun Su;
Vogler, Georg;
Wang, Danling;
Kalvakuri, Sreehari;
Iliuk, Anton;
Tao, W. Andy;
Bodmer, Rolf;
Zhang, Zhuohua

Publication type:

Article

An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2503, doi. 10.1093/hmg/dds065

By:

Mugniery, Emilie;
Dacquin, Romain;
Marty, Caroline;
Benoist-Lasselin, Catherine;
de Vernejoul, Marie-Christine;
Jurdic, Pierre;
Munnich, Arnold;
Geoffroy, Valérie;
Legeai-Mallet, Laurence

Publication type:

Article

Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 11, p. 2476, doi. 10.1093/hmg/dds061

By:

Adhikari, Deepak;
Zheng, Wenjing;
Shen, Yan;
Gorre, Nagaraju;
Ning, Yao;
Halet, Guillaume;
Kaldis, Philipp;
Liu, Kui

Publication type:

Article