Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 9

Results: 16
    1

    Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1670, doi. 10.1093/hmg/ddx073
    By:
    • Yamamoto, Yuta;
    • Makiyama, Takeru;
    • Harita, Takeshi;
    • Sasaki, Kenichi;
    • Wuriyanghai, Yimin;
    • Hayano, Mamoru;
    • Nishiuchi, Suguru;
    • Kohjitani, Hirohiko;
    • Hirose, Sayako;
    • Chen, Jiarong;
    • Yokoi, Fumika;
    • Ishikawa, Taisuke;
    • Ohno, Seiko;
    • Chonabayashi, Kazuhisa;
    • Motomura, Hideki;
    • Yoshida, Yoshinori;
    • Horie, Minoru;
    • Makita, Naomasa;
    • Kimura, Takeshi
    Publication type:
    Article
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    TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1732, doi. 10.1093/hmg/ddx093
    By:
    • Moujalled, Diane;
    • Grubman, Alexandra;
    • Acevedo, Karla;
    • Shu Yang;
    • Ke, Yazi D.;
    • Moujalled, Donia M.;
    • Duncan, Clare;
    • Caragounis, Aphrodite;
    • Perera, Nirma D.;
    • Turner, Bradley J.;
    • Prudencio, Mercedes;
    • Petrucelli, Leonard;
    • Blair, Ian;
    • Ittner, Lars M.;
    • Crouch, Peter J.;
    • Liddell, Jeffrey R.;
    • White, Anthony R.
    Publication type:
    Article
    8

    Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1716, doi. 10.1093/hmg/ddx086
    By:
    • Kosfeld, Anne;
    • Brand, Frank;
    • Weiss, Anna-Carina;
    • Kreuzer, Martin;
    • Goerk, Michaela;
    • Martens, Helge;
    • Schubert, Stephanie;
    • Schäfer, Anne-Kathrin;
    • Riehmer, Vera;
    • Hennies, Imke;
    • Hinrich Bräsen, Jan;
    • Pape, Lars;
    • Amann, Kerstin;
    • Krogvold, Lars;
    • Bjerre, Anna;
    • Daniel, Christoph;
    • Kispert, Andreas;
    • Haffner, Dieter;
    • Weber, Ruthild G.
    Publication type:
    Article
    9

    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
    By:
    • Johnstone, Devon L.;
    • Nguyen, Thi-Tuyet-Mai;
    • Yoshiko Murakami;
    • Kernohan, Kristin D.;
    • Tétreault, Martine;
    • Goldsmith, Claire;
    • Doja, Asif;
    • Wagner, Justin D.;
    • Huang, Lijia;
    • Hartley, Taila;
    • St-Denis, Anik;
    • le Deist, Françoise;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Taroh Kinoshita;
    • Dyment, David A.;
    • Boycott, Kym M.;
    • Campeau, Philippe M.
    Publication type:
    Article
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    Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1770, doi. 10.1093/hmg/ddx062
    By:
    • Spracklen, Cassandra N.;
    • Peng Chen;
    • Young Jin Kim;
    • Xu Wang;
    • Hui Cai;
    • Shengxu Li;
    • Jirong Long;
    • Ying Wu;
    • Ya Xing Wang;
    • Fumihiko Takeuchi;
    • Jer-Yuarn Wu;
    • Keum-Ji Jung;
    • Cheng Hu;
    • Koichi Akiyama;
    • Yonghong Zhang;
    • Sanghoon Moon;
    • Johnson, Todd A.;
    • Huaixing Li;
    • Dorajoo, Rajkumar;
    • Meian He
    Publication type:
    Article
    14

    Genetic regulation of gene expression in the epileptic human hippocampus.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1759, doi. 10.1093/hmg/ddx061
    By:
    • Mirza, Nasir;
    • Appleton, Richard;
    • Burn, Sasha;
    • du Plessis, Daniel;
    • Duncan, Roderick;
    • Farah, Jibril Osman;
    • Feenstra, Bjarke;
    • Hviid, Anders;
    • Josan, Vivek;
    • Mohanraj, Rajiv;
    • Shukralla, Arif;
    • Sills, Graeme J.;
    • Marson, Anthony G.;
    • Pirmohamed, Munir
    Publication type:
    Article
    15

    A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca<sup>2+</sup> homeostasis and ER-mitochondria interactions.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1599, doi. 10.1093/hmg/ddx060
    By:
    • Rouzier, Cécile;
    • Moore, David;
    • Delorme, Cécile;
    • Lacas-Gervais, Sandra;
    • Ait-El-Mkadem, Samira;
    • Fragaki, Konstantina;
    • Burté, Florence;
    • Serre, Valérie;
    • Bannwarth, Sylvie;
    • Chaussenot, Annabelle;
    • Catala, Martin;
    • Yu-Wai-Man, Patrick;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article
    16

    MERTK rs4374383 variant predicts incident nonalcoholic fatty liver disease and diabetes: role of mononuclear cell activation and adipokine response to dietary fat.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1747, doi. 10.1093/hmg/ddw400
    By:
    • Musso, Giovanni;
    • Cassader, Maurizio;
    • De Michieli, Franco;
    • Paschetta, Elena;
    • Pinach, Silvia;
    • Saba, Francesca;
    • Bongiovanni, Daria;
    • Framarin, Luciana;
    • Berrutti, Mara;
    • Leone, Nicola;
    • Corvisieri, Stefania;
    • Parente, Renato;
    • Molinaro, Federica;
    • Sircana, Antonio;
    • Bo, Simona;
    • Gambino, Roberto
    Publication type:
    Article