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

Results: 22

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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