Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 2

Results: 19

Role of ZNF224 in cell growth and chemoresistance of chronic lymphocitic leukemia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 344, doi. 10.1093/hmg/ddw427

By:

Busiello, Teresa;
Ciano, Michela;
Romano, Simona;
Sodaro, Gaetano;
Garofalo, Olgavalentina;
Bruzzese, Dario;
Simeone, Luigia;
Chiurazzi, Federico;
Romano, Maria Fiammetta;
Costanzo, Paola;
Cesaro, Elena

Publication type:

Article

Mendelian randomization estimates of alanine aminotransferase with cardiovascular disease: Guangzhou Biobank Cohort study.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 430, doi. 10.1093/hmg/ddw396

By:

Lin Xu;
Chao Qiang Jiang;
Tai Hing Lam;
Wei Sen Zhang;
Feng Zhu;
Ya Li Jin;
Thomas, G. Neil;
Kar Keung Cheng;
Schooling, C. Mary

Publication type:

Article

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 395, doi. 10.1093/hmg/ddw395

By:

Maiuri, Tamara;
Mocle, Andrew J.;
Hung, Claudia L.;
Jianrun Xia;
van Roon-Mom, Willeke M. C.;
Truant, Ray

Publication type:

Article

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 2, p. 466, doi. 10.1093/hmg/ddw424
Publication type:: Article

Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 367, doi. 10.1093/hmg/ddw393

By:

Aksoy, Irene;
Utami, Kagistia H.;
Winata, Cecilia L.;
Hillmer, Axel M.;
Rouam, Sigrid L.;
Briault, Sylvain;
Davila, Sonia;
Stanton, Lawrence W.;
Cacheux, Valere

Publication type:

Article

Deficient TSC1/TSC2-complex suppression of SOX9- osteopontin-AKT signalling cascade constrains tumour growth in tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 407, doi. 10.1093/hmg/ddw397

By:

Fuquan Jin;
Keguo Jiang;
Shuang Ji;
Li Wang;
Zhaofei Ni;
Fuqiang Huang;
Chunjia Li;
Rongrong Chen;
Hongbing Zhang;
Zhongdong Hu;
Xiaojun Zha

Publication type:

Article

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 383, doi. 10.1093/hmg/ddw394

By:

Zhaoxin Ma;
Wenjun Xia;
Fei Liu;
Jing Ma;
Shaoyang Sun;
Jin Zhang;
Nan Jiang;
Xu Wang;
Jiongjiong Hu;
Duan Ma

Publication type:

Article

Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 454, doi. 10.1093/hmg/ddw414

By:

Wei Jie Seow;
Keitaro Matsuo;
Chao Agnes Hsiung;
Kouya Shiraishi;
Minsun Song;
Hee Nam Kim;
Maria Pik Wong;
Yun-Chul Hong;
Hosgood III, H. Dean;
Zhaoming Wang;
I-Shou Chang;
Jiu-Cun Wang;
Chatterjee, Nilanjan;
Tucker, Margaret;
Hu Wei;
Tetsuya Mitsudomi;
Wei Zheng;
Jin Hee Kim;
Baosen Zhou;
Caporaso, Neil E.

Publication type:

Article

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 438, doi. 10.1093/hmg/ddw399

By:

Springelkamp, Henriët;
Iglesias, Adriana I.;
Mishra, Aniket;
Höhn, René;
Wojciechowski, Robert;
Khawaja, Anthony P.;
Nag, Abhishek;
Ya Xing Wang;
Jie Jin Wang;
Cuellar-Partida, Gabriel;
Gibson, Jane;
Cooke Bailey, Jessica N.;
Vithana, Eranga N.;
Gharahkhani, Puya;
Boutin, Thibaud;
Ramdas, Wishal D.;
Zeller, Tanja;
Luben, Robert N.;
Yonova-Doing, Ekaterina;
Viswanathan, Ananth C.

Publication type:

Article

Topoisomerase 1 inhibitor topotecan delays the disease progression in a mouse model of Huntington’s disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 420, doi. 10.1093/hmg/ddw398

By:

Shekhar, Shashi;
Vatsa, Naman;
Kumar, Vipendra;
Singh, Brijesh Kumar;
Jamal, Imran;
Sharma, Ankit;
Jana, Nihar Ranjan

Publication type:

Article

H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 354, doi. 10.1093/hmg/ddw392

By:

Hisashi Hasumi;
Yukiko Hasumi;
Baba, Masaya;
Hafumi Nishi;
Mitsuko Furuya;
Vocke, Cathy D.;
Lang, Martin;
Irie, Nobuko;
Chiharu Esumi;
Merino, Maria J.;
Takashi Kawahara;
Yasuhiro Isono;
Kazuhide Makiyama;
Warner, Andrew C.;
Haines, Diana C.;
Ming-Hui Wei;
Zbar, Berton;
Hagenau, Herbert;
Feigenbaum, Lionel;
Keiichi Kondo

Publication type:

Article

Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 333, doi. 10.1093/hmg/ddw389

By:

Le Dour, Caroline;
Macquart, Coline;
Sera, Fusako;
Homma, Shunichi;
Bonne, Gisele;
Morrow, John P.;
Worman, Howard J.;
Muchir, Antoine

Publication type:

Article

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 320, doi. 10.1093/hmg/ddw388

By:

Bachmann, Christoph;
Jungbluth, Heinz;
Muntoni, Francesco;
Manzur, Adnan Y.;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 305, doi. 10.1093/hmg/ddw387

By:

Athanasiou, Dimitra;
Aguila, Monica;
Opefi, Chikwado A.;
South, Kieron;
Bellingham, James;
Bevilacqua, Dalila;
Munro, Peter M.;
Kanuga, Naheed;
Mackenzie, Francesca E.;
Dubis, Adam M.;
Georgiadis, Anastasios;
Graca, Anna B.;
Pearson, Rachael A.;
Ali, Robin R.;
Sakami, Sanae;
Palczewski, Krzysztof;
Sherman, Michael Y.;
Reeves, Philip J.;
Cheetham, Michael E.

Publication type:

Article

FMRP-dependent Mdm2 dephosphorylation is required for MEF2-induced synapse elimination.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 293, doi. 10.1093/hmg/ddw386

By:

Nien-Pei Tsai;
Wilkerson, Julia R.;
Weirui Guo;
Huber, Kimberly M.

Publication type:

Article

Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 282, doi. 10.1093/hmg/ddw385

By:

O’Meara, Ryan W.;
Cummings, Sarah E.;
De Repentigny, Yves;
McFall, Emily;
Michalski, John-Paul;
Deguise, Marc-Olivier;
Gibeault, Sabrina;
Kothary, Rashmi

Publication type:

Article

IGF1 neuronal response in the absence of MECP2 is dependent on TRalpha 3.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 270, doi. 10.1093/hmg/ddw384

By:

de Souza, Janaina S.;
Carromeu, Cassiano;
Torres, Laila B.;
Araujo, Bruno H. S.;
Cugola, Fernanda R.;
Maciel, Rui M. B.;
Muotri, Alysson R.;
Giannocco, Gisele

Publication type:

Article

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 258, doi. 10.1093/hmg/ddw383

By:

Breuss, Martin W.;
Thai Nguyen;
Srivatsan, Anjana;
Leca, Ines;
Guoling Tian;
Fritz, Tanja;
Hansen, Andi H.;
Musaev, Damir;
McEvoy-Venneri, Jennifer;
James, Kiely N.;
Rosti, Rasim O.;
Scott, Eric;
Uner Tan;
Kolodner, Richard D.;
Cowan, Nicholas J.;
Keays, David A.;
Gleeson, Joseph G.

Publication type:

Article

Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 2, p. 243, doi. 10.1093/hmg/ddw382

By:

Ying Ni;
Seballos, Spencer;
Fletcher, Benjamin;
Romigh, Todd;
Yehia, Lamis;
Mester, Jessica;
Senter, Leigha;
Niazi, Farshad;
Saji, Motoyasu;
Ringel, Matthew D.;
LaFramboise, Thomas;
Eng, Charis

Publication type:

Article