Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 11

Results: 22

Connexin 43 is involved in the generation of human-induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2221, doi. 10.1093/hmg/ddt074

By:

Ke, Qiong;
Li, Li;
Cai, Bing;
Liu, Chang;
Yang, Yan;
Gao, Yong;
Huang, Weijun;
Yuan, Xiaofeng;
Wang, Tao;
Zhang, Qi;
Harris, Andrew L.;
Tao, Liang;
Xiang, Andy Peng

Publication type:

Article

Functional analysis of sucrase–isomaltase mutations from chronic lymphocytic leukemia patients.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2273

By:

Rodríguez, David;
Ramsay, Andrew J.;
Quesada, Víctor;
Garabaya, Cecilia;
Campo, Elías;
Freije, José M. P.;
López-Otín, Carlos

Publication type:

Article

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2186, doi. 10.1093/hmg/ddt071

By:

Lignani, Gabriele;
Raimondi, Andrea;
Ferrea, Enrico;
Rocchi, Anna;
Paonessa, Francesco;
Cesca, Fabrizia;
Orlando, Marta;
Tkatch, Tatiana;
Valtorta, Flavia;
Cossette, Patrick;
Baldelli, Pietro;
Benfenati, Fabio

Publication type:

Article

Exploring the genetic basis of chronic periodontitis: a genome-wide association study.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2312, doi. 10.1093/hmg/ddt065

By:

Divaris, Kimon;
Monda, Keri L.;
North, Kari E.;
Olshan, Andrew F.;
Reynolds, Lindsay M.;
Hsueh, Wen-Chi;
Lange, Ethan M.;
Moss, Kevin;
Barros, Silvana P.;
Weyant, Robert J.;
Liu, Yongmei;
Newman, Anne B.;
Beck, James D.;
Offenbacher, Steven

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 11, p. NP, doi. 10.1093/hmg/ddt220
Publication type:: Article

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2177, doi. 10.1093/hmg/ddt070

By:

Frank, Valeska;
Habbig, Sandra;
Bartram, Malte P.;
Eisenberger, Tobias;
Veenstra-Knol, Hermine E.;
Decker, Christian;
Boorsma, Reinder A.C.;
Göbel, Heike;
Nürnberg, Gudrun;
Griessmann, Anabel;
Franke, Mareike;
Borgal, Lori;
Kohli, Priyanka;
Völker, Linus A.;
Dötsch, Jörg;
Nürnberg, Peter;
Benzing, Thomas;
Bolz, Hanno J.;
Johnson, Colin;
Gerkes, Erica H.

Publication type:

Article

The Parkinson disease-related protein DJ-1 counteracts mitochondrial impairment induced by the tumour suppressor protein p53 by enhancing endoplasmic reticulum–mitochondria tethering.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2152, doi. 10.1093/hmg/ddt068

By:

Ottolini, Denis;
Calì, Tito;
Negro, Alessandro;
Brini, Marisa

Publication type:

Article

Deciphering the 8q24.21 association for glioma.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2293, doi. 10.1093/hmg/ddt063

By:

Enciso-Mora, Victor;
Hosking, Fay J.;
Kinnersley, Ben;
Wang, Yufei;
Shete, Sanjay;
Zelenika, Diana;
Broderick, Peter;
Idbaih, Ahmed;
Delattre, Jean-Yves;
Hoang-Xuan, Khe;
Marie, Yannick;
Di Stefano, Anna Luisa;
Labussière, Marianne;
Dobbins, Sara;
Boisselier, Blandine;
Ciccarino, Pietro;
Rossetto, Marta;
Armstrong, Georgina;
Liu, Yanhong;
Gousias, Konstantinos

Publication type:

Article

Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2303, doi. 10.1093/hmg/ddt064

By:

Wang, Xu;
Chua, Hui-Xiang;
Chen, Peng;
Ong, Rick Twee-Hee;
Sim, Xueling;
Zhang, Weihua;
Takeuchi, Fumihiko;
Liu, Xuanyao;
Khor, Chiea-Chuen;
Tay, Wan-Ting;
Cheng, Ching-Yu;
Suo, Chen;
Liu, Jianjun;
Aung, Tin;
Chia, Kee-Seng;
Kooner, Jaspal S.;
Chambers, John C.;
Wong, Tien-Yin;
Tai, E-Shyong;
Kato, Norihiro

Publication type:

Article

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2169, doi. 10.1093/hmg/ddt069

By:

Comino-Méndez, Iñaki;
de Cubas, Aguirre A.;
Bernal, Carmen;
Álvarez-Escolá, Cristina;
Sánchez-Malo, Carolina;
Ramírez-Tortosa, César L.;
Pedrinaci, Susana;
Rapizzi, Elena;
Ercolino, Tonino;
Bernini, Giampaolo;
Bacca, Alessandra;
Letón, Rocío;
Pita, Guillermoó;
Alonso, María R.;
Leandro-García, Luis J.;
Gómez-Graña, Álvaro;
Inglada-Pérez, Lucía;
Mancikova, Veronika;
Rodríguez-Antona, Cristina;
Mannelli, Massimo

Publication type:

Article

Dopaminergic expression of the Parkinsonian gene LRRK2-G2019S leads to non-autonomous visual neurodegeneration, accelerated by increased neural demands for energy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2129, doi. 10.1093/hmg/ddt061

By:

Hindle, Samantha;
Afsari, Farinaz;
Stark, Meg;
Middleton, C. Adam;
Evans, Gareth J.O.;
Sweeney, Sean T.;
Elliott, Christopher J.H.

Publication type:

Article

Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2234, doi. 10.1093/hmg/ddt075

By:

Liu, Chunqiao;
Lin, Chen;
Whitaker, D. Thad;
Bakeri, Hirva;
Bulgakov, Oleg V.;
Liu, Pinghu;
Lei, Jingqi;
Dong, Lijin;
Li, Tiansen;
Swaroop, Anand

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 11, p. NP, doi. 10.1093/hmg/ddt218
Publication type:: Article

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2141, doi. 10.1093/hmg/ddt067

By:

Ghelli, Anna;
Tropeano, Concetta V.;
Calvaruso, Maria Antonietta;
Marchesini, Alessandra;
Iommarini, Luisa;
Porcelli, Anna Maria;
Zanna, Claudia;
De Nardo, Vera;
Martinuzzi, Andrea;
Wibrand, Flemming;
Vissing, John;
Kurelac, Ivana;
Gasparre, Giuseppe;
Selamoglu, Nur;
Daldal, Fevzi;
Rugolo, Michela

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 11, p. NP, doi. 10.1093/hmg/ddt219
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 11, p. NP, doi. 10.1093/hmg/ddt221
Publication type:: Article

Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomas.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2263, doi. 10.1093/hmg/ddt077

By:

Wang, Yu;
He, Xin;
Yu, Qi;
Eng, Charis

Publication type:

Article

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2200, doi. 10.1093/hmg/ddt072

By:

Awad, Salma;
Al-Dosari, Mohammed S;
Al-Yacoub, Nadya;
Colak, Dilek;
Salih, Mustafa A;
Alkuraya, Fowzan S;
Poizat, Coralie

Publication type:

Article

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2325, doi. 10.1093/hmg/ddt066

By:

Shi, Yi;
Gong, Bo;
Chen, Lijia;
Zuo, Xianbo;
Liu, Xiaoqi;
Tam, Pancy O.S.;
Zhou, Xiangtian;
Zhao, Peiquan;
Lu, Fang;
Qu, Jia;
Sun, Liangdan;
Zhao, Fuxin;
Chen, Haoyu;
Zhang, Yiping;
Zhang, Dingding;
Lin, Ying;
Lin, He;
Ma, Shi;
Cheng, Jing;
Yang, Jiyun

Publication type:

Article

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2283

By:

Cortes, Adrian;
Field, Judith;
Glazov, Evgeny A.;
Hadler, Johanna;
Stankovich, Jim;
Brown, Matthew A.

Publication type:

Article

Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2247, doi. 10.1093/hmg/ddt076

By:

Ufartes, Roser;
Schneider, Tomasz;
Mortensen, Lena Sünke;
de Juan Romero, Camino;
Hentrich, Klaus;
Knoetgen, Hendrik;
Beilinson, Vadim;
Moebius, Wiebke;
Tarabykin, Victor;
Alves, Frauke;
Pardo, Luis A.;
Rawlins, J. Nicholas P.;
Stuehmer, Walter

Publication type:

Article

Modifying expression of EphA4 and its downstream targets improves functional recovery after stroke.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 11, p. 2214, doi. 10.1093/hmg/ddt073

By:

Lemmens, Robin;
Jaspers, Tom;
Robberecht, Wim;
Thijs, Vincent N.

Publication type:

Article