Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 1

Results: 19

A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 109, doi. 10.1093/hmg/ddw371

By:

Quek, Hazel;
Luff, John;
Cheung, KaGeen;
Kozlov, Sergei;
Gatei, Magtouf;
Soon Lee, C.;
Bellingham, Mark C.;
Noakes, Peter G.;
Yi Chieh Lim;
Barnett, Nigel L.;
Dingwall, Steven;
Wolvetang, Ernst;
Tomoji Mashimo;
Roberts, Tara L.;
Lavin, Martin F.

Publication type:

Article

Genome-wide association study of Parkinson's disease in East Asians.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 226, doi. 10.1093/hmg/ddw379

By:

Jia Nee Foo;
Tan, Louis C.;
Irwan, Ishak D.;
Wing-Lok Au;
Hui Qi Low;
Prakash, Kumar-M.;
Ahmad-Annuar, Azlina;
Jinxin Bei;
Chan, Anne Y. Y.;
Chiung Mei Chen;
Yi-Chun Chen;
Sun Ju Chung;
Hao Deng;
Shen-Yang Lim;
Mok, Vincent;
Hao Pang;
Zhong Pei;
Rong Peng;
Hui-Fang Shang;
Kyuyoung Song

Publication type:

Article

Axonal ribosomes and mRNAs associate with fragile X granules in adult rodent and human brains.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 192, doi. 10.1093/hmg/ddw381

By:

Akins, Michael R.;
Berk-Rauch, Hanna E.;
Kwan, Kenneth Y.;
Mitchell, Molly E.;
Shepard, Katherine A.;
Korsak, Lulu I. T.;
Stackpole, Emily E.;
Warner-Schmidt, Jennifer L.;
Sestan, Nenad;
Cameron, Heather A.;
Fallon, Justin R.

Publication type:

Article

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 65, doi. 10.1093/hmg/ddw368

By:

Ji-Yeon Shin;
Méndez-López, Iván;
Mingi Hong;
Yuexia Wang;
Kurenai Tanji;
Wei Wu;
Shugol, Leana;
Krauss, Robert S.;
Dauer, William T.;
Worman, Howard J.

Publication type:

Article

Transgenic TBK1 mice have features of normal tension glaucoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 124, doi. 10.1093/hmg/ddw372

By:

Fingert, John H.;
Miller, Kathy;
Hedberg-Buenz, Adam;
Roos, Ben R.;
Lewis, Carly J.;
Mullins, Robert F.;
Anderson, Michael G.

Publication type:

Article

Most brain disease-associated and eQTL haplotypes are not located within transcription factor DNase-seq footprints in brain.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 79, doi. 10.1093/hmg/ddw369

By:

Handel, Adam E.;
Gallone, Giuseppe;
Cader, M. Zameel;
Ponting, Chris P.

Publication type:

Article

Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia-9.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 184, doi. 10.1093/hmg/ddw378

By:

Kai Han;
Liuping Liang;
Li Li;
Zhen Ouyang;
Bentian Zhao;
Qi Wang;
Zhaoming Liu;
Yu Zhao;
Xiaoshuai Ren;
Fei Jiang;
Chengdan Lai;
Kepin Wang;
Sen Yan;
Liang Huang;
Lin Guo;
Kang Zeng;
Liangxue Lai;
Nana Fan

Publication type:

Article

Modulation of bilirubin neurotoxicity by the Abcb1 transporter in the Ugt1<sup>-/-</sup> lethal mouse model of neonatal hyperbilirubinemia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 145, doi. 10.1093/hmg/ddw375

By:

Bočkor, Luka;
Bortolussi, Giulia;
Vodret, Simone;
Iaconcig, Alessandra;
Jašprová, Jana;
Zelenka, Jaroslav;
Vitek, Libor;
Tiribelli, Claudio;
Muro, Andrés F.

Publication type:

Article

Identification of novel loci affecting circulating chromogranins and related peptides.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 233, doi. 10.1093/hmg/ddw380

By:

Benyamin, Beben;
Maihofer, Adam X.;
Schork, Andrew J.;
Hamilton, Bruce A.;
Fangwen Rao;
Schmid-Schönbein, Geert W.;
Kuixing Zhang;
Mahata, Manjula;
Stridsberg, Mats;
Schork, Nicholas J.;
Biswas, Nilima;
Hook, Vivian Y.;
Zhiyun Wei;
Montgomery, Grant W.;
Martin, Nicholas G.;
Nievergelt, Caroline M.;
Whitfield, John B.;
O'Connor, Daniel T.

Publication type:

Article

Early born neurons are abnormally positioned in the doublecortin knockout hippocampus.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 90, doi. 10.1093/hmg/ddw370

By:

Khalaf-Nazzal, Reham;
Stouffer, Melissa A.;
Olaso, Robert;
Muresan, Leila;
Roumegous, Audrey;
Lavilla, Virginie;
Carpentier, Wassila;
Moutkine, Imane;
Dumont, Sylvie;
Albaud, Benoit;
Cagnard, Nicolas;
Crollius, Hugues Roest;
Francis, Fiona

Publication type:

Article

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 173, doi. 10.1093/hmg/ddw377

By:

Hidehito Kondo;
Nadezda Maksimova;
Takanobu Otomo;
Hisakazu Kato;
Atsuko Imai;
Yoshihiro Asano;
Kaori Kobayashi;
Satoshi Nojima;
Akihiro Nakaya;
Yusuke Hamada;
Kaori Irahara;
Gurinova, Elizaveta;
Sukhomyasova, Aitalina;
Nogovicina, Anna;
Savvina, Mira;
Tamotsu Yoshimori;
Keiichi Ozono;
Norio Sakai

Publication type:

Article

Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 158, doi. 10.1093/hmg/ddw376

By:

Ping Zhu;
Sieben, Cynthia J.;
Xiaolei Xu;
Harris, Peter C.;
Xueying Lin

Publication type:

Article

Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 210, doi. 10.1093/hmg/ddw373

By:

Viana, Joana;
Hannon, Eilis;
Dempster, Emma;
Pidsley, Ruth;
Macdonald, Ruby;
Knox, Olivia;
Spiers, Helen;
Troakes, Claire;
Al-Saraj, Safa;
Turecki, Gustavo;
Schalkwyk, Leonard C.;
Mill, Jonathan

Publication type:

Article

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 133, doi. 10.1093/hmg/ddw374

By:

Vocke, Farina;
Weisschuh, Nicole;
Marino, Valerio;
Malfatti, Silvia;
Jacobson, Samuel G.;
Reiff, Charlotte M.;
Dell'Orco, Daniele;
Koch, Karl-Wilhelm

Publication type:

Article

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 52, doi. 10.1093/hmg/ddw367

By:

Chandler, Randy J.;
Williams, Ian M.;
Gibson, Alana L.;
Davidson, Cristin D.;
Incao, Arturo A.;
Hubbard, Brandon T.;
Porter, Forbes D.;
Pavan, William J.;
Venditti, Charles P.

Publication type:

Article

Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 44, doi. 10.1093/hmg/ddw366

By:

Daimei Sasayama;
Kotaro Hattori3;
Shintaro Ogawa;
Yuuki Yokota;
Ryo Matsumura;
Toshiya Teraishi;
Hiroaki Hori;
Miho Ota;
Sumiko Yoshida;
Hiroshi Kunugi

Publication type:

Article

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 33, doi. 10.1093/hmg/ddw365

By:

Piccolo, Pasquale;
Attanasio, Sergio;
Secco, Ilaria;
Sangermano, Riccardo;
Strisciuglio, Caterina;
Limongelli, Giuseppe;
Miele, Erasmo;
Mutarelli, Margherita;
Banfi, Sandro;
Nigro, Vincenzo;
Pons, Tirso;
Valencia, Alfonso;
Zentilin, Lorena;
Campione, Severo;
Nardone, Gerardo;
Lynnes, Ty C.;
Celestino-Soper, Patricia B. S.;
Spoonamore, Katherine G.;
D'Armiento, Francesco P.;
Giacca, Mauro

Publication type:

Article

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 19, doi. 10.1093/hmg/ddw364

By:

Abramowicz, Iga;
Carpenter, Gillian;
Alfieri, Mariaevelina;
Colnaghi, Rita;
Outwin, Emily;
Parent, Philippe;
Thauvin-Robinet, Christel;
Iaconis, Daniela;
Franco, Brunella;
O'Driscoll, Mark

Publication type:

Article

Leucine-rich repeat kinase 2 exacerbates neuronal cytotoxicity through phosphorylation of histone deacetylase 3 and histone deacetylation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 1, doi. 10.1093/hmg/ddw363

By:

Kyung Ah Han;
Woo Hyun Shin;
Sungyeon Jung;
Wongi Seol;
Hyemyung Seo;
CheMyong Ko;
Kwang Chul Chung

Publication type:

Article