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
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
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
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
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
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
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
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
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
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
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