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

Results: 16

CORRIGENDUM: 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. 1785, doi. 10.1093/hmg/ddx126
Publication type:
Article
CORRIGENDUM: A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca21 homeostasis and ER-mitochondria interactions.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1786, doi. 10.1093/hmg/ddx130
Publication type:
Article
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
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
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
The Wilms tumor protein Wt1 contributes to female fertility by regulating oviductal proteostasis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1694, doi. 10.1093/hmg/ddx075
By:
- Nathan, Abinaya;
- Reinhardt, Peter;
- Kruspe, Dagmar;
- Jörß, Tjard;
- Groth, Marco;
- Nolte, Hendrik;
- Habenicht, Andreas;
- Herrmann, Jörg;
- Holschbach, Verena;
- Toth, Bettina;
- Krüger, Marcus;
- Zhao-Qi Wang;
- Platzer, Matthias;
- Englert, Christoph
Publication type:
Article
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1678, doi. 10.1093/hmg/ddx074
By:
- Segal-Salto, Michal;
- Hansson, Karin;
- Sapir, Tamar;
- Kaplan, Anna;
- Levy, Talia;
- Schweizer, Michaela;
- Frotscher, Michael;
- James, Peter;
- Reiner, Orly
Publication type:
Article
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
ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2- mediated scaffolding function.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1656, doi. 10.1093/hmg/ddx070
By:
- Demirsoy, S.;
- Martin, S.;
- Motamedi, S.;
- van Veen, S.;
- Holemans, T.;
- den Haute, C. Van;
- Jordanova, A.;
- Baekelandt, V.;
- Vangheluwe, P.;
- Agostinis, P.
Publication type:
Article
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1634, doi. 10.1093/hmg/ddx068
By:
- Bismo Strøm, Thea;
- Laerdahl, Jon K.;
- Leren, Trond P.
Publication type:
Article
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1622, doi. 10.1093/hmg/ddx064
By:
- Kyriakoudi, Styliana;
- Sargiannidou, Irene;
- Kagiava, Alexia;
- Olympiou, Margarita;
- Kleopa, Kleopas A.
Publication type:
Article
DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 9, p. 1612, doi. 10.1093/hmg/ddx063
By:
- Xiaoyin Ma;
- Huirong Li;
- Yipin Wang;
- Jing Wang;
- Qinxiang Zheng;
- Jiajia Hua;
- Juan Yang;
- Li Pan;
- Fan Lu;
- Jia Qu;
- Ling Hou
Publication type:
Article
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
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
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
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