Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 15

Results: 28

PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4077, doi. 10.1093/hmg/ddu121

By:

Pirazzi, Carlo;
Valenti, Luca;
Motta, Benedetta Maria;
Pingitore, Piero;
Hedfalk, Kristina;
Mancina, Rosellina Margherita;
Burza, Maria Antonella;
Indiveri, Cesare;
Ferro, Yvelise;
Montalcini, Tiziana;
Maglio, Cristina;
Dongiovanni, Paola;
Fargion, Silvia;
Rametta, Raffaela;
Pujia, Arturo;
Andersson, Linda;
Ghosal, Saswati;
Levin, Malin;
Wiklund, Olov;
Iacovino, Michelina

Publication type:

Article

Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4094, doi. 10.1093/hmg/ddu126

By:

Zhou, Libin;
Yin, Jun;
Wang, Conghui;
Liao, Jiawei;
Liu, George;
Chen, Ling

Publication type:

Article

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3943, doi. 10.1093/hmg/ddu105

By:

Xu, You-hai;
Xu, Kui;
Sun, Ying;
Liou, Benjamin;
Quinn, Brian;
Li, Rong-hua;
Xue, Ling;
Zhang, Wujuan;
Setchell, Kenneth D.R.;
Witte, David;
Grabowski, Gregory A.

Publication type:

Article

Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3975, doi. 10.1093/hmg/ddu112

By:

Diepenbroek, Meike;
Casadei, Nicolas;
Esmer, Hakan;
Saido, Takaomi C.;
Takano, Jiro;
Kahle, Philipp J.;
Nixon, Ralph A;
Rao, Mala V.;
Melki, Ronald;
Pieri, Laura;
Helling, Stefan;
Marcus, Katrin;
Krueger, Rejko;
Masliah, Eliezer;
Riess, Olaf;
Nuber, Silke

Publication type:

Article

Dystrophic mdx mice develop severe cardiac and respiratory dysfunction following genetic ablation of the anti-inflammatory cytokine IL-10.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3990, doi. 10.1093/hmg/ddu113

By:

Nitahara-Kasahara, Yuko;
Hayashita-Kinoh, Hiromi;
Chiyo, Tomoko;
Nishiyama, Akiyo;
Okada, Hironori;
Takeda, Shin'ichi;
Okada, Takashi

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu356
Publication type:: Article

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4142, doi. 10.1093/hmg/ddu137

By:

Butland, Stefanie L.;
Sanders, Shaun S.;
Schmidt, Mandi E.;
Riechers, Sean-Patrick;
Lin, David T.S.;
Martin, Dale D.O.;
Vaid, Kuljeet;
Graham, Rona K.;
Singaraja, Roshni R.;
Wanker, Erich E.;
Conibear, Elizabeth;
Hayden, Michael R.

Publication type:

Article

Genetic prion disease: no role for the immune system in disease pathogenesis?

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4134, doi. 10.1093/hmg/ddu134

By:

Friedman-Levi, Yael;
Binyamin, Orli;
Frid, Kati;
Ovadia, Haim;
Gabizon, Ruth

Publication type:

Article

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4015, doi. 10.1093/hmg/ddu115

By:

Bernkopf, Marie;
Webersinke, Gerald;
Tongsook, Chanakan;
Koyani, Chintan N.;
Rafiq, Muhammad A.;
Ayaz, Muhammad;
Müller, Doris;
Enzinger, Christian;
Aslam, Muhammad;
Naeem, Farooq;
Schmidt, Kurt;
Gruber, Karl;
Speicher, Michael R.;
Malle, Ernst;
Macheroux, Peter;
Ayub, Muhammad;
Vincent, John B.;
Windpassinger, Christian;
Duba, Hans-Christoph

Publication type:

Article

Abnormal retinal development associated with FRMD7 mutations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4086, doi. 10.1093/hmg/ddu122

By:

Thomas, Mervyn G.;
Crosier, Moira;
Lindsay, Susan;
Kumar, Anil;
Araki, Masasuke;
Leroy, Bart P.;
McLean, Rebecca J.;
Sheth, Viral;
Maconachie, Gail;
Thomas, Shery;
Moore, Anthony T.;
Gottlob, Irene

Publication type:

Article

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4185, doi. 10.1093/hmg/ddu192

By:

Allache, Redouane;
Lachance, Stéphanie;
Guyot, Marie Claude;
De Marco, Patrizia;
Merello, Elisa;
Justice, Monica J.;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

Genetic suppression of β2-adrenergic receptors ameliorates tau pathology in a mouse model of tauopathies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4024, doi. 10.1093/hmg/ddu116

By:

Wisely, Elena V.;
Xiang, Yang K.;
Oddo, Salvatore

Publication type:

Article

Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4043, doi. 10.1093/hmg/ddu118

By:

Barfield, Whitney L.;
Uaesoontrachoon, Kitipong;
Wu, Chung-Sheih;
Lin, Stephen;
Chen, Yue;
Wang, Paul C.;
Kanaan, Yasmine;
Bond, Vernon;
Hoffman, Eric P.

Publication type:

Article

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4064, doi. 10.1093/hmg/ddu120

By:

Brooke, Matthew A.;
Etheridge, Sarah L.;
Kaplan, Nihal;
Simpson, Charlotte;
O'Toole, Edel A.;
Ishida-Yamamoto, Akemi;
Marches, Olivier;
Getsios, Spiro;
Kelsell, David P.

Publication type:

Article

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4035, doi. 10.1093/hmg/ddu117

By:

Joeng, Kyu Sang;
Lee, Yi-Chien;
Jiang, Ming-Ming;
Bertin, Terry K.;
Chen, Yuqing;
Abraham, Annie M.;
Ding, Hao;
Bi, Xiaohong;
Ambrose, Catherine G.;
Lee, Brendan H.

Publication type:

Article

Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3958, doi. 10.1093/hmg/ddu111

By:

Busch, Maike;
Schwindt, Heinrich;
Brandt, Artur;
Beier, Manfred;
Görldt, Nicole;
Romaniuk, Paul;
Toska, Eneda;
Roberts, Stefan;
Royer, Hans-Dieter;
Royer-Pokora, Brigitte

Publication type:

Article

IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4177, doi. 10.1093/hmg/ddu135

By:

Viktorin, Alexander;
Frankowiack, Marcel;
Padyukov, Leonid;
Chang, Zheng;
Melén, Erik;
Sääf, Annika;
Kull, Inger;
Klareskog, Lars;
Hammarström, Lennart;
Magnusson, Patrik K.E.

Publication type:

Article

Localized changes to glycogen synthase kinase-3 and collapsin response mediator protein-2 in the Huntington's disease affected brain.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4051, doi. 10.1093/hmg/ddu119

By:

Lim, Nastasia K.H.;
Hung, Lin W.;
Pang, Terence Y.;
Mclean, Catriona A.;
Liddell, Jeffrey R.;
Hilton, James B.;
Li, Qiao-Xin;
White, Anthony R.;
Hannan, Anthony J.;
Crouch, Peter J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu353
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu355
Publication type:: Article

Allelic expression analysis in the brain suggests a role for heterogeneous insults affecting epigenetic processes in autism spectrum disorders.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4111, doi. 10.1093/hmg/ddu128

By:

Ben-David, Eyal;
Shohat, Shahar;
Shifman, Sagiv

Publication type:

Article

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3907, doi. 10.1093/hmg/ddu102

By:

Odorisio, Teresa;
Di Salvio, Michela;
Orecchia, Angela;
Di Zenzo, Giovanni;
Piccinni, Eugenia;
Cianfarani, Francesca;
Travaglione, Antonella;
Uva, Paolo;
Bellei, Barbara;
Conti, Andrea;
Zambruno, Giovanna;
Castiglia, Daniele

Publication type:

Article

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4103, doi. 10.1093/hmg/ddu127

By:

Vieira, Natássia M.;
Naslavsky, Michel S.;
Licinio, Luciana;
Kok, Fernando;
Schlesinger, David;
Vainzof, Mariz;
Sanchez, Nury;
Kitajima, João Paulo;
Gal, Lihi;
Cavaçana, Natale;
Serafini, Peter R.;
Chuartzman, Silvia;
Vasquez, Cristina;
Mimbacas, Adriana;
Nigro, Vincenzo;
Pavanello, Rita C.;
Schuldiner, Maya;
Kunkel, Louis M.;
Zatz, Mayana

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 15, p. NP, doi. 10.1093/hmg/ddu354
Publication type:: Article

Comprehensive analysis of gene expression in human retina and supporting tissues.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4001, doi. 10.1093/hmg/ddu114

By:

Li, Mingyao;
Jia, Cheng;
Kazmierkiewicz, Krista L.;
Bowman, Anita S.;
Tian, Lifeng;
Liu, Yichuan;
Gupta, Neel A.;
Gudiseva, Harini V.;
Yee, Stephanie S.;
Kim, Mijin;
Dentchev, Tzvete;
Kimble, James A.;
Parker, John S.;
Messinger, Jeffrey D.;
Hakonarson, Hakon;
Curcio, Christine A.;
Stambolian, Dwight

Publication type:

Article

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 3923, doi. 10.1093/hmg/ddu104

By:

Bauß, Katharina;
Knapp, Barbara;
Jores, Pia;
Roepman, Ronald;
Kremer, Hannie;
Wijk, Erwin v.;
Märker, Tina;
Wolfrum, Uwe

Publication type:

Article

Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4125, doi. 10.1093/hmg/ddu129

By:

Ferreboeuf, Maxime;
Mariot, Virginie;
Furling, Denis;
Butler-Browne, Gillian;
Mouly, Vincent;
Dumonceaux, Julie

Publication type:

Article

Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 15, p. 4161, doi. 10.1093/hmg/ddu106

By:

Maiti, Amit K.;
Kim-Howard, Xana;
Motghare, Prasenjeet;
Pradhan, Vandana;
Chua, Kek Heng;
Sun, Celi;
Arango-Guerrero, María Teresa;
Ghosh, Kanjaksha;
Niewold, Timothy B.;
Harley, John B.;
Anaya, Juan-Manual;
Looger, Loren L.;
Nath, Swapan K.

Publication type:

Article