Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 17

Results: 18

Dystrophin contains multiple independent membrane-binding domains.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3647, doi. 10.1093/hmg/ddw210

By:

Junling Zhao;
Kasun Kodippili;
Yongping Yue;
Hakim, Chady H.;
Lakmini Wasala;
Xiufang Pan;
Keqing Zhang;
Yang, Nora N.;
Dongsheng Duan;
Yi Lai

Publication type:

Article

SHOC2 subcellular shuttling requires the KEKE motifrich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3824, doi. 10.1093/hmg/ddw229

By:

Motta, Marialetizia;
Chillemi, Giovanni;
Fodale, Valentina;
Cecchetti, Serena;
Coppola, Simona;
Stipo, Silvia;
Cordeddu, Viviana;
Macioce, Pompeo;
Gelb, Bruce D.;
Tartaglia, Marco

Publication type:

Article

An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3654, doi. 10.1093/hmg/ddw212

By:

Southwell, Amber L.;
Smith-Dijak, Amy;
Kay, Chris;
Sepers, Marja;
Villanueva, Erika B.;
Parsons, Matthew P.;
Yuanyun Xie;
Anderson, Lisa;
Felczak, Boguslaw;
Waltl, Sabine;
Seunghyun Ko;
Cheung, Daphne;
Dal Cengio, Louisal;
Slama, Ramy;
Petoukhov, Eugenia;
Raymond, Lynn A.;
Hayden, Michael R.

Publication type:

Article

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3836, doi. 10.1093/hmg/ddw230

By:

Seifert, Wenke;
Posor, York;
Schu, Peter;
Stenbeck, Gudrun;
Mundlos, Stefan;
Klaassen, Sabine;
Nürnberg, Peter;
Haucke, Volker;
Kornak, Uwe;
Kühnisch, Jirko

Publication type:

Article

Neuromuscular junctions are pathological but not denervated in two mouse models of spinal bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3768, doi. 10.1093/hmg/ddw222

By:

Poort, Jessica E.;
Rheuben, Mary B.;
Breedlove, S. Marc;
Jordan, Cynthia L.

Publication type:

Article

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3863, doi. 10.1093/hmg/ddw223

By:

Wyszynski, Asaf;
Chi-Chen Hong;
Lam, Kristin;
Michailidou, Kyriaki;
Lytle, Christian;
Song Yao;
Yali Zhang;
Bolla, Manjeet K.;
Qin Wang;
Dennis, Joe;
Hopper, John L.;
Southey, Melissa C.;
Schmidt, Marjanka K.;
Broeks, Annegien;
Muir, Kenneth;
Lophatananon, Artitaya;
Fasching, Peter A.;
Beckmann, Matthias W.;
Peto, Julian;
dos-Santos-Silva, Isabel

Publication type:

Article

Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3676, doi. 10.1093/hmg/ddw213

By:

Moncayo-Arlandi, Javier;
Guasch, Eduard;
Sanz-de la Garza, Maria;
Casado, Marta;
Garcia, Nahuel Aquiles;
Mont, Lluis;
Sitges, Marta;
Knöll, Ralph;
Buyandelger, Byambajav;
Campuzano, Oscar;
Diez-Juan, Antonio;
Brugada, Ramon

Publication type:

Article

Lack of P4H-TM in mice results in age-related retinal and renal alterations.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3810, doi. 10.1093/hmg/ddw228

By:

Leinonen, Henri;
Rossi, Maarit;
Salo, Antti M.;
Tiainen, Päaivi;
Hyväarinen, Jaana;
Pitkäanen, Marja;
Sormunen, Raija;
Miinalainen, Ilkka;
Chi Zhang;
Soininen, Raija;
Kivirikko, Kari I.;
Koskelainen, Ari;
Tanila, Heikki;
Myllyharju, Johanna;
Koivunen, Peppi

Publication type:

Article

Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3798, doi. 10.1093/hmg/ddw225

By:

Kamaludin, Ain A.;
Smolarchuk, Christa;
Bischof, Jocelyn M.;
Eggert, Rachelle;
Greer, John J.;
Ren, Jun;
Lee, Joshua J.;
Yokota, Toshifumi;
Berry, Fred B.;
Wevrick, Rachel

Publication type:

Article

Serum gamma-glutamyl transferase and risk of type 2 diabetes in the general Korean population: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3877, doi. 10.1093/hmg/ddw226

By:

Youn Sue Lee;
Yoonsu Cho;
Burgess, Stephen;
Smith, George Davey;
Relton, Caroline L.;
So-Youn Shin;
Min-Jeong Shin

Publication type:

Article

Calcium dynamics change in degenerating cone photoreceptors.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3729, doi. 10.1093/hmg/ddw219

By:

Kulkarni, Manoj;
Trifunović, Dragana;
Schubert, Timm;
Euler, Thomas;
Paquet-Durand, François

Publication type:

Article

Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3699, doi. 10.1093/hmg/ddw217

By:

Jumbo-Lucioni, Patricia P.;
Parkinson, William M.;
Kopke, Danielle L.;
Broadie, Kendal

Publication type:

Article

Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3689, doi. 10.1093/hmg/ddw215

By:

Kumari, Daman;
Usdin, Karen

Publication type:

Article

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3849, doi. 10.1093/hmg/ddw206

By:

Hill-Burns, Erin M.;
Ross, Owen A.;
Wissemann, William T.;
Soto-Ortolaza, Alexandra I.;
Zareparsi, Sepideh;
Siuda, Joanna;
Lynch, Timothy;
Wszolek, Zbigniew K.;
Silburn, Peter A.;
Mellick, George D.;
Ritz, Beate;
Scherzer, Clemens R.;
Zabetian, Cyrus P.;
Factor, Stewart A.;
Breheny, Patrick J.;
Payami, Haydeh

Publication type:

Article

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3754, doi. 10.1093/hmg/ddw221

By:

Xingyi Guo;
Delio, Maria;
Haque, Nousin;
Castellanos, Raquel;
Hestand, Matthew S.;
Vermeesch, Joris R.;
Morrow, Bernice E.;
Deyou Zheng

Publication type:

Article

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup> signalling.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3741, doi. 10.1093/hmg/ddw220

By:

Gregianin, Elisa;
Pallafacchina, Giorgia;
Zanin, Sofia;
Crippa, Valeria;
Rusmini, Paola;
Poletti, Angelo;
Mingyan Fang;
Zhouxuan Li;
Diano, Laura;
Petrucci, Antonio;
Lispi, Ludovico;
Cavallaro, Tiziana;
Fabrizi, Gian M.;
Muglia, Maria;
Boaretto, Francesca;
Vettori, Andrea;
Rizzuto, Rosario;
Mostacciuolo, Maria L.;
Vazza, Giovanni

Publication type:

Article

Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3715, doi. 10.1093/hmg/ddw218

By:

Hoekstra, Attje S.;
Addie, Ruben D.;
Ras, Cor;
Seifar, Reza M.;
Ruivenkamp, Claudia A.;
Briaire-de Bruijn, Inge H.;
Hes, Frederik J.;
Jansen, Jeroen C.;
Corssmit, Eleonora P. M.;
Corver, Willem E.;
Morreau, Hans;
Bovée, Judith V. M. G.;
Bayley, Jean-Pierre;
Devilee, Peter

Publication type:

Article

Progressive development of renal cysts in glycogen storage disease type I.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 17, p. 3784, doi. 10.1093/hmg/ddw224

By:

Gjorgjieva, Monika;
Raffin, Margaux;
Duchampt, Adeline;
Perry, Ariane;
Stefanutti, Anne;
Brevet, Marie;
Tortereau, Antonin;
Dubourg, Laurence;
Hubert-Buron, Aurélie;
Mabille, Mylène;
Pelissou, Coralie;
Lassalle, Louis;
Labrune, Philippe;
Mithieux, I. Gilles;
Rajas, Fabienne

Publication type:

Article