Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 2

Results: 27

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 383, doi. 10.1093/hmg/ddu451

By:

Vaccari, Ilaria;
Carbone, Antonietta;
Previtali, Stefano Carlo;
Mironova, Yevgeniya A.;
Alberizzi, Valeria;
Noseda, Roberta;
Rivellini, Cristina;
Bianchi, Francesca;
Del Carro, Ubaldo;
D'Antonio, Maurizio;
Lenk, Guy M.;
Wrabetz, Lawrence;
Giger, Roman J.;
Meisler, Miriam H.;
Bolino, Alessandra

Publication type:

Article

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 361, doi. 10.1093/hmg/ddu448

By:

Ferdinandusse, Sacha;
Jimenez-Sanchez, Gerardo;
Koster, Janet;
Denis, Simone;
Van Roermund, Carlo W.;
Silva-Zolezzi, Irma;
Moser, Ann B.;
Visser, Wouter F.;
Gulluoglu, Mine;
Durmaz, Ozlem;
Demirkol, Mubeccel;
Waterham, Hans R.;
Gökcay, Gülden;
Wanders, Ronald J. A.;
Valle, David

Publication type:

Article

Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461

By:

Guissart, Claire;
Xiuju Li;
Leheup, Bruno;
Drouot, Nathalie;
Montaut-Verient, Bettina;
Raffo, Emmanuel;
Jonveaux, Philippe;
Roux, Anne-Françoise;
Claustres, Mireille;
Fliegel, Larry;
Koenig, Michel

Publication type:

Article

Loss of nNOS inhibits compensatory muscle hypertrophy and exacerbates inflammation and eccentric contraction-induced damage in mdx mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 492, doi. 10.1093/hmg/ddu469

By:

Froehner, Stanley C.;
Reed, Sarah M.;
Anderson, Kendra N.;
Huang, Paul L.;
Percival, Justin M.

Publication type:

Article

Comprehensive phosphoproteome analysis unravels the core signaling network that initiates the earliest synapse pathology in preclinical Alzheimer’s disease brain.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 540, doi. 10.1093/hmg/ddu475

By:

Kazuhiko Tagawa;
Hidenori Homma;
Ayumu Saito;
Kyota Fujita;
Xigui Chen;
Seiya Imoto;
Tsutomu Oka;
Hikaru Ito;
Kazumi Motoki;
Chisato Yoshida;
Hiroyuki Hatsuta;
Shigeo Murayama;
Takeshi Iwatsubo;
Satoru Miyano;
Hitoshi Okazawa

Publication type:

Article

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 424, doi. 10.1093/hmg/ddu458

By:

Noriko Funato;
Masataka Nakamura;
Richardson, James A.;
Srivastava, Deepak;
Yanagisawa, Hiromi

Publication type:

Article

Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 525, doi. 10.1093/hmg/ddu472

By:

Hideyuki Takahashi;
Naoko Adachi;
Toshihiko Shirafuji;
Sally Danno;
Takehiko Ueyama;
Vendruscolo, Michele;
Shuvaev, Anton N.;
Takuya Sugimoto;
Takahiro Seki;
Daizo Hamada;
Kazuhiro Irie;
Hirokazu Hirai;
Norio Sakai;
Naoaki Saito

Publication type:

Article

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 516, doi. 10.1093/hmg/ddu471

By:

Fahiminiya, Somayyeh;
Al-Jallad, Hadil;
Majewski, Jacek;
Palomo, Telma;
Moffatt, Pierre;
Roschger, Paul;
Klaushofer, Klaus;
Glorieux, Francis H.;
Rauch, Frank

Publication type:

Article

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 436, doi. 10.1093/hmg/ddu459

By:

Cottle, Denny L.;
Ursino, Gloria M. A.;
Ieng Ip, Sally Chi;
Jones, Lynelle K.;
Ditommaso, Tia;
Hacking, Douglas F.;
Mangan, Niamh E.;
Mellett, Natalie A.;
Henley, Katya J.;
Sviridov, Dmitri;
Nold-Petry, Claudia A.;
Nold, Marcel F.;
Meikle, Peter J.;
Kile, Benjamin T.;
Smyth, Ian M.

Publication type:

Article

Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 397, doi. 10.1093/hmg/ddu453

By:

Kumar, Vinod;
Gutierrez-Achury, Javier;
Kanduri, Kartiek;
Almeida, Rodrigo;
Hrdlickova, Barbara;
Zhernakova, Daria V.;
Westra, Harm-Jan;
Karjalainen, Juha;
Ricaño-Ponce, Isis;
Yang Li;
Stachurska, Anna;
Tigchelaar, Ettje F.;
Abdulahad, Wayel H.;
Lähdesmäki, Harri;
Hofker, Marten H.;
Zhernakova, Alexandra;
Franke, Lude;
Lahesmaa, Riitta;
Wijmenga, Cisca;
Withoff, Sebo

Publication type:

Article

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 471, doi. 10.1093/hmg/ddu462

By:

Sacco, Sonia;
Giuliano, Serena;
Sacconi, Sabrina;
Desnuelle, Claude;
Barhanin, Jacques;
Amri, Ez-zoubir;
Bendahhou, Saïd

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu681
Publication type:: Article

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 299, doi. 10.1093/hmg/ddu444

By:

Okada, Minoru;
Ikegawa, Shiro;
Morioka, Miho;
Yamashita, Akihiro;
Saito, Atsushi;
Sawai, Hideaki;
Murotsuki, Jun;
Ohashi, Hirofumi;
Okamoto, Toshio;
Nishimura, Gen;
Imaizumi, Kazunori;
Tsumaki, Noriyuki

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu655
Publication type:: Article

Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 314, doi. 10.1093/hmg/ddu445

By:

Iida, Madoka;
Katsuno, Masahisa;
Nakatsuji, Hideaki;
Adachi, Hiroaki;
Kondo, Naohide;
Miyazaki, Yu;
Tohnai, Genki;
Ikenaka, Kensuke;
Watanabe, Hirohisa;
Yamamoto, Masahiko;
Kishida, Ken;
Sobue, Gen

Publication type:

Article

The Drosophila Huntington’s disease gene ortholog dhtt influences chromatin regulation during development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 330, doi. 10.1093/hmg/ddu446

By:

Dietz, Kevin N.;
Di Stefano, Luisa;
Maher, Robert C.;
Zhu, Hui;
Macdonald, Marcy E.;
Gusella, James F.;
Walker, James A.

Publication type:

Article

Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 572, doi. 10.1093/hmg/ddu454

By:

Li, Jin;
Lange, Leslie A.;
Duan, Qing;
Lu, Yurong;
Singleton, Andrew B.;
Zonderman, Alan B.;
Evans, Michele K.;
Li, Yun;
Taylor, Herman A.;
Willis, Monte S.;
Nalls, Mike;
Wilson, James G.;
Lange, Ethan M.

Publication type:

Article

DNA methylation analysis of human myoblasts during in vitro myogenic differentiation: de novo methylation of promoters of muscle-related genes and its involvement in transcriptional down-regulation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 410, doi. 10.1093/hmg/ddu457

By:

Kohei Miyata;
Tomoko Miyata;
Kazuhiko Nakabayashi;
Kohji Okamura;
Masashi Naito;
Tomoko Kawai;
Shuji Takada;
Kiyoko Kato;
Shingo Miyamoto;
Kenichiro Hata;
Hiroshi Asahara

Publication type:

Article

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 559, doi. 10.1093/hmg/ddu450

By:

Schick, Ursula M.;
Auer, Paul L.;
Bis, Joshua C.;
Lin, Honghuang;
Wei, Peng;
Pankratz, Nathan;
Lange, Leslie A.;
Brody, Jennifer;
Stitziel, Nathan O.;
Kim, Daniel S.;
Carlson, Christopher S.;
Fornage, Myriam;
Haessler, Jeffery;
Hsu, Li;
Jackson, Rebecca D.;
Kooperberg, Charles;
Leal, Suzanne M.;
Psaty, Bruce M.;
Boerwinkle, Eric;
Tracy, Russell

Publication type:

Article

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 346, doi. 10.1093/hmg/ddu447

By:

Hao, Le Thi;
Duy, Phan Q.;
Jontes, James D.;
Beattie, Christine E.

Publication type:

Article

A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington’s disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 450, doi. 10.1093/hmg/ddu460

By:

Nath, Siddharth;
Munsie, Lise N.;
Truant, Ray

Publication type:

Article

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 480, doi. 10.1093/hmg/ddu46

By:

Sasarman, Florin;
Nishimura, Tamiko;
Antonicka, Hana;
Weraarpachai, Woranontee;
Shoubridge, Eric A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu629
Publication type:: Article

The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 582, doi. 10.1093/hmg/ddu455

By:

Kottyan, Leah C.;
Zoller, Erin E.;
Bene, Jessica;
Lu, Xiaoming;
Kelly, Jennifer A.;
Rupert, Andrew M.;
Lessard, Christopher J.;
Vaughn, Samuel E.;
Marion, Miranda;
Weirauch, Matthew T.;
Namjou, Bahram;
Adler, Adam;
Rasmussen, Astrid;
Glenn, Stuart;
Montgomery, Courtney G.;
Hirschfield, Gideon M.;
Xie, Gang;
Coltescu, Catalina;
Amos, Chris;
Li, He

Publication type:

Article

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 506, doi. 10.1093/hmg/ddu470

By:

Wagnon, Jacy L.;
Korn, Matthew J.;
Parent, Rachel;
Tarpey, Taylor A.;
Jones, Julie M.;
Hammer, Michael F.;
Murphy, Geoffrey G.;
Parent, Jack M.;
Meisler, Miriam H.

Publication type:

Article

The adipocyte differentiation protein APMAP is an endogenous suppressor of Aβ production in the brain.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 371, doi. 10.1093/hmg/ddu449

By:

Mosser, Sebastien;
Alattia, Jean-René;
Dimitrov, Mitko;
Matz, Alexandre;
Pascual, Justine;
Schneider, Bernard L.;
Fraering, Patrick C.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 2, p. NP, doi. 10.1093/hmg/ddu707
Publication type:: Article