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
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
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
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
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
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
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
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
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
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
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
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
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
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