Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 6

Results: 16

CORRIGENDUM.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1217, doi. 10.1093/hmg/ddx072
Publication type:
Article
Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1173, doi. 10.1093/hmg/ddx038
By:
- Naoyuki Matsumoto;
- Yoshio Hoshiba;
- Kazuya Morita;
- Natsu Uda;
- Miwako Hirota;
- Maki Minamikawa;
- Haruka Ebisu;
- Yohei Shinmyo;
- Hiroshi Kawasaki
Publication type:
Article
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1182, doi. 10.1093/hmg/ddx032
By:
- Jin-Song Shen;
- Arning, Erland;
- West, Michael L.;
- Day, Taniqua S.;
- Shuyuan Chen;
- Xing-Li Meng;
- Forni, Sabrina;
- McNeill, Nathan;
- Goker-Alpan, Ozlem;
- Xuan Wang;
- Ashcraft, Paula;
- Moore, David F.;
- Seng H. Cheng;
- Schiffmann, Raphael;
- Bottiglieri, Teodoro
Publication type:
Article
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1157, doi. 10.1093/hmg/ddx027
By:
- Sorusch, Nasrin;
- Bauß, Katharina;
- Plutniok, Janet;
- Samanta, Ananya;
- Knapp, Barbara;
- Nagel-Wolfrum, Kerstin;
- Wolfrum, Uwe
Publication type:
Article
Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1205, doi. 10.1093/hmg/ddx026
By:
- Molineros, Julio E.;
- Wanling Yang;
- Xu-jie Zhou;
- Sun, Celi;
- Yukinori Okada;
- Huoru Zhang;
- Kek Heng Chua;
- Yu-Lung Lau;
- Yuta Kochi;
- Akari Suzuki;
- Kazuhiko Yamamoto;
- Jianyang Ma;
- So-Young Bang;
- Hye-Soon Lee;
- Kwangwoo Kim;
- Sang-Cheol Bae;
- Hong Zhang;
- Nan Shen;
- Looger, Loren L.;
- Nath, Swapan K.
Publication type:
Article
Myo18b is essential for sarcomere assembly in fast skeletal muscle.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1146, doi. 10.1093/hmg/ddx025
By:
- Berger, Joachim;
- Berger, Silke;
- Mei Li;
- Currie, Peter D.
Publication type:
Article
Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1193, doi. 10.1093/hmg/ddx024
By:
- Jain, Deepti;
- Hodonsky, Chani J.;
- Schick, Ursula M.;
- Morrison, Jean V.;
- Minnerath, Sharon;
- Brown, Lisa;
- Schurmann, Claudia;
- Yongmei Liu;
- Auer, Paul L.;
- Laurie, Cecelia A.;
- Taylor, Kent D.;
- Browning, Brian L.;
- Papanicolaou, George;
- Browning, Sharon R.;
- Loos, Ruth J. F.;
- North, Kari E.;
- Thyagarajan, Bharat;
- Laurie, Cathy C.;
- Thornton, Timothy A.;
- Sofer, Tamar
Publication type:
Article
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1133, doi. 10.1093/hmg/ddx022
By:
- Stopford, Matthew J.;
- Higginbottom, Adrian;
- Hautbergue, Guillaume M.;
- Cooper-Knock, Johnathan;
- Mulcahy, Padraig J.;
- De Vos, Kurt J.;
- Renton, Alan E.;
- Pliner, Hannah;
- Calvo, Andrea;
- Chio, Adriano;
- Traynor, Bryan J.;
- Azzouz, Mimoun;
- Heath, Paul R.;
- Kirby, Janine;
- Shaw, Pamela J.
Publication type:
Article
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1115, doi. 10.1093/hmg/ddx021
By:
- Southwell, Amber L.;
- Skotte, Niels H.;
- Villanueva, Erika B.;
- Østergaard, Michael E.;
- Xiaofeng Gu;
- Kordasiewicz, Holly B.;
- Kay, Chris;
- Cheung, Daphne;
- Yuanyun Xie;
- Waltl, Sabine;
- Dal Cengio, Louisa;
- Findlay-Black, Hailey;
- Doty, Crystal N.;
- Petoukhov, Eugenia;
- Iworima, Diepiriye;
- Slama, Ramy;
- Ooi, Jolene;
- Pouladi, Mahmoud A.;
- Yang, X. William;
- Swayze, Eric E.
Publication type:
Article
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1104, doi. 10.1093/hmg/ddx020
By:
- Singh, Nivedita;
- Bhat, Vishwanath Kumble;
- Tiwari, Ankana;
- Kodaganur, Srinivas G.;
- Tontanahal, Sagar J.;
- Sarda, Astha;
- Malini, K. V.;
- Kumar, Arun
Publication type:
Article
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1087, doi. 10.1093/hmg/ddx019
By:
- Borgia, Doriana;
- Malena, Adriana;
- Spinazzi, Marco;
- Desbats, Maria Andrea;
- Salviati, Leonardo;
- Russell, Aaron P.;
- Miotto, Giovanni;
- Tosatto, Laura;
- Pegoraro, Elena;
- Sorarù, Gianni;
- Pennuto, Maria;
- Vergani, Lodovica
Publication type:
Article
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1078, doi. 10.1093/hmg/ddx018
By:
- Lohmann, Katja;
- Ikuo Masuho;
- Patil, Dipak N.;
- Baumann, Hauke;
- Hebert, Eva;
- Steinrücke, Sofia;
- Trujillano, Daniel;
- Skamangas, Nickolas K.;
- Dobricic, Valerija;
- Hüning, Irina;
- Gillessen-Kaesbach, Gabriele;
- Westenberger, Ana;
- Savic-Pavicevic, Dusanka;
- Münchau, Alexander;
- Oprea, Gabriela;
- Klein, Christine;
- Rolfs, Arndt;
- Martemyanov, Kirill A.
Publication type:
Article
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1070, doi. 10.1093/hmg/ddx017
By:
- Gudmundsson, Sanna;
- Wilbe, Maria;
- Ekvall, Sara;
- Ameur, Adam;
- Cahill, Nicola;
- Alexandrov, Ludmil B.;
- Virtanen, Marie;
- Hellström Pigg, Maritta;
- Vahlquist, Anders;
- Törmä, Hans;
- Bondeson, Marie-Louise
Publication type:
Article
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1056, doi. 10.1093/hmg/ddx016
By:
- Izzo, Antonella;
- Nitti, Maria;
- Mollo, Nunzia;
- Paladino, Simona;
- Procaccini, Claudio;
- Faicchia, Deriggio;
- Calì, Gaetano;
- Genesio, Rita;
- Bonfiglio, Ferdinando;
- Cicatiello, Rita;
- Polishchuk, Elena;
- Polishchuk, Roman;
- Pinton, Paolo;
- Matarese, Giuseppe;
- Conti, Anna;
- Nitsch, Lucio
Publication type:
Article
Relationships linking emotional, motor, cognitive and GABAergic dysfunctions in dystrophin-deficient mdx mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1041, doi. 10.1093/hmg/ddx013
By:
- Vaillend, Cyrille;
- Chaussenot, Rémi
Publication type:
Article
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 6, p. 1031, doi. 10.1093/hmg/ddx072
By:
- Rydning, Siri L.;
- Backe, Paul H.;
- Sousa, Mirta M. L.;
- Iqbal, Zafar;
- Øye, Ane-Marte;
- Ying Sheng;
- Mingyi Yang;
- Xiaolin Lin;
- Slupphaug, Geir;
- Nordenmark, Tonje H.;
- Vigeland, Magnus D.;
- Bjørås, Magnar;
- Tallaksen, Chantal M.;
- Selmer, Kaja K.
Publication type:
Article