Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 10

Results: 19
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    Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 2093, doi. 10.1093/hmg/ddw058
    By:
    • Verweij, Niek;
    • Leach, Irene Mateo;
    • Isaacs, Aaron;
    • Arking, Dan E.;
    • Bis, Joshua C.;
    • Pers, Tune H.;
    • Van Den Berg, Marten E.;
    • Lyytikäinen, Leo-Pekka;
    • Barnett, Phil;
    • Xinchen Wang;
    • Soliman, Elsayed Z.;
    • Van Duijn, Cornelia M.;
    • Kähönen, Mika;
    • Van Veldhuisen, Dirk J.;
    • Kors, Jan A.;
    • Raitakari, Olli T.;
    • Silva, Claudia T.;
    • Lehtimäki, Terho;
    • Hillege, Hans L.;
    • Hirschhorn, Joel N.
    Publication type:
    Article
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    Testing the role of predicted gene knockouts in human anthropometric trait variation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 2082, doi. 10.1093/hmg/ddw055
    By:
    • Lessard, Samuel;
    • Manning, Alisa K.;
    • Cécile Low-Kam;
    • Auer, Paul L.;
    • Giri, Ayush;
    • Graff, Mariaelisa;
    • Schurmann, Claudia;
    • Yaghootkar, Hanieh;
    • Luan, Jian'an;
    • Esko, Tonu;
    • Karaderi, Tugce;
    • Bottinger, Erwin P.;
    • Yingchang Lu;
    • Carlson, Chris;
    • Caulfield, Mark;
    • Dubé, Marie-Pierre;
    • Jackson, Rebecca D.;
    • Kooperberg, Charles;
    • McKnight, Barbara;
    • Mongrain, Ian
    Publication type:
    Article
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    BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 1934, doi. 10.1093/hmg/ddw066
    By:
    • Thirthagiri, Eswary;
    • Klarmann, Kimberly D.;
    • Shukla, Anil K.;
    • Southon, Eileen;
    • Biswas, Kajal;
    • Martin, Betty K.;
    • North, Susan Lynn;
    • Magidson, Valentin;
    • Burkett, Sandra;
    • Haines, Diana C.;
    • Noer, Kathleen;
    • Matthai, Roberta;
    • Tessarollo, Lino;
    • Loncarek, Jadranka;
    • Keller, Jonathan R.;
    • Sharan, Shyam K.
    Publication type:
    Article
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    Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 2070, doi. 10.1093/hmg/ddw048
    By:
    • Horikoshi, Momoko;
    • Pasquali, Lorenzo;
    • Wiltshire, Steven;
    • Huyghe, Jeroen R.;
    • Mahajan, Anubha;
    • Asimit, Jennifer L.;
    • Ferreira, Teresa;
    • Locke, Adam E.;
    • Robertson, Neil R.;
    • Xu Wang;
    • Xueling Sim;
    • Hayato Fujita;
    • Kazuo Hara;
    • Young, Robin;
    • Weihua Zhang;
    • Sungkyoung Choi;
    • Han Chen;
    • Kaur, Ismeet;
    • Fumihiko Takeuchi;
    • Fontanillas, Pierre
    Publication type:
    Article
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    Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 2045, doi. 10.1093/hmg/ddw078
    By:
    • Yuki Miyasaka;
    • Hiroshi Shitara;
    • Sari Suzuki;
    • SachiYoshimoto;
    • Yuta Seki;
    • Yasuhiro Ohshiba;
    • Kazuhiro Okumura;
    • Choji Taya;
    • Hisashi Tokano;
    • Ken Kitamura;
    • Toyoyuki Takada;
    • Hiroshi Hibino;
    • Toshihiko Shiroishi;
    • Ryo Kominami;
    • Hiromichi Yonekawa;
    • Yoshiaki Kikkawa
    Publication type:
    Article
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    mGlu<sub>5</sub> positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndrome.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 1990, doi. 10.1093/hmg/ddw074
    By:
    • Gogliotti, Rocco G.;
    • Senter, Rebecca K.;
    • Rook, Jerri M.;
    • Ghoshal, Ayan;
    • Zamorano, Rocio;
    • Malosh, Chrysa;
    • Stauffer, Shaun R.;
    • Bridges, Thomas M.;
    • Bartolome, Jose M.;
    • Daniels, J. Scott;
    • Jones, Carrie K.;
    • Lindsley, Craig W.;
    • Conn, P. Jeffrey;
    • Niswender, Colleen M.
    Publication type:
    Article
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    DNA methylation profiling in human Huntington's disease brain.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 2013, doi. 10.1093/hmg/ddw076
    By:
    • De Souza, Rebecca A. G.;
    • Islam, Sumaiya A.;
    • McEwen, Lisa M.;
    • Mathelier, Anthony;
    • Hill, Austin;
    • Mah, Sarah M.;
    • Wasserman, Wyeth W.;
    • Kobor, Michael S.;
    • Leavitt, Blair R.
    Publication type:
    Article
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    Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 1923, doi. 10.1093/hmg/ddw065
    By:
    • Melissa Lee;
    • Vecchio-Pagán, Briana;
    • Sharma, Neeraj;
    • Waheed, Abdul;
    • Xiaopeng Li;
    • Raraigh, Karen S.;
    • Robbins, Sarah;
    • Han, Sangwoo T.;
    • Franca, Arianna L.;
    • Pellicore, Matthew J.;
    • Evans, Taylor A.;
    • Arcara, Kristin M.;
    • Hien Nguyen;
    • Shan Luan;
    • Belchis, Deborah;
    • Hertecant, Jozef;
    • Zabner, Joseph;
    • Sly, William S.;
    • Cutting, Garry R.
    Publication type:
    Article
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    Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 10, p. 1885, doi. 10.1093/hmg/ddw062
    By:
    • Xin Zhao;
    • Zhihua Feng;
    • Ling, Karen K. Y.;
    • Mollin, Anna;
    • Sheedy, Josephine;
    • Yeh, Shirley;
    • Petruska, Janet;
    • Narasimhan, Jana;
    • Dakka, Amal;
    • Welch, Ellen M.;
    • Karp, Gary;
    • Chen, Karen S.;
    • Metzger, Friedrich;
    • Ratni, Hasane;
    • Lotti, Francesco;
    • Tisdale, Sarah;
    • Naryshkin, Nikolai A.;
    • Pellizzoni, Livio;
    • Paushkin, Sergey;
    • Chien-Ping Ko
    Publication type:
    Article