Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 18

Results: 14

TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3272, doi. 10.1093/hmg/ddy233

By:

Fox, Michael D;
Carson, Vincent J;
Feng, Han-Zhong;
Lawlor, Michael W;
Gray, John T;
Brigatti, Karlla W;
Jin, J -P;
Strauss, Kevin A

Publication type:

Article

Ulk2 controls cortical excitatory–inhibitory balance via autophagic regulation of p62 and GABAA receptor trafficking in pyramidal neurons.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3165, doi. 10.1093/hmg/ddy219

By:

Sumitomo, Akiko;
Yukitake, Hiroshi;
Hirai, Kazuko;
Horike, Kouta;
Ueta, Keisho;
Chung, Youjin;
Warabi, Eiji;
Yanagawa, Toru;
Kitaoka, Shiho;
Furuyashiki, Tomoyuki

Publication type:

Article

Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3206, doi. 10.1093/hmg/ddy221

By:

Hadwen, Jeremiah;
Schock, Sarah;
Mears, Alan;
Yang, Robert;
Charron, Philippe;
Zhang, Liying;
Xi, Hualin S;
MacKenzie, Alex

Publication type:

Article

A tandem repeat array in IG-DMR is essential for imprinting of paternal allele at the Dlk1–Dio3 domain during embryonic development.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3283, doi. 10.1093/hmg/ddy235

By:

Saito, Takeshi;
Hara, Satoshi;
Kato, Tomoko;
Tamano, Moe;
Muramatsu, Akari;
Asahara, Hiroshi;
Takada, Shuji

Publication type:

Article

Systematic Mendelian randomization framework elucidates hundreds of CpG sites which may mediate the influence of genetic variants on disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3293, doi. 10.1093/hmg/ddy210

By:

Richardson, Tom G;
Haycock, Philip C;
Zheng, Jie;
Timpson, Nicholas J;
Gaunt, Tom R;
Smith, George Davey;
Relton, Caroline L;
Hemani, Gibran

Publication type:

Article

Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3257, doi. 10.1093/hmg/ddy232

By:

Pellegrini, Laura;
Hauser, David N;
Li, Yan;
Mamais, Adamantios;
Beilina, Alexandra;
Kumaran, Ravindran;
Wetzel, Andrea;
Nixon-Abell, Jonathon;
Heaton, George;
Rudenko, Iakov

Publication type:

Article

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3233, doi. 10.1093/hmg/ddy218

By:

Li, Dong;
Wenger, Tara L;
Seiler, Christoph;
March, Michael E;
Gutierrez-Uzquiza, Alvaro;
Kao, Charlly;
Bhoj, Elizabeth;
Tian, Lifeng;
Rosenbach, Misha;
Liu, Yichuan

Publication type:

Article

Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3189, doi. 10.1093/hmg/ddy224

By:

Williams, Erin T;
Glauser, Liliane;
Tsika, Elpida;
Jiang, Haisong;
Islam, Shariful;
Moore, Darren J

Publication type:

Article

Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3154, doi. 10.1093/hmg/ddy226

By:

Yehia, Lamis;
Jindal, Supriya;
Komar, Anton A;
Eng, Charis

Publication type:

Article

Impaired melanocortin pathway function in Prader–Willi syndrome gene-Magel2 deficient mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3129, doi. 10.1093/hmg/ddy216

By:

Oncul, Merve;
Dilsiz, Pelin;
Oz, Edanur Ates;
Ates, Tayfun;
Aklan, Iltan;
Celik, Esref;
Atasoy, Nilufer Sayar;
Atasoy, Deniz

Publication type:

Article

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3218, doi. 10.1093/hmg/ddy225

By:

Issop, Yasmin;
Hathazi, Denisa;
Khan, Muzamil Majid;
Rudolf, Rüdiger;
Weis, Joachim;
Spendiff, Sally;
Slater, Clarke R;
Roos, Andreas;
Lochmüller, Hanns

Publication type:

Article

CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3137, doi. 10.1093/hmg/ddy194

By:

Quinn, Peter M;
Alves, C Henrique;
Klooster, Jan;
Wijnholds, Jan

Publication type:

Article

Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3246, doi. 10.1093/hmg/ddy222

By:

Xia, Hanzhang;
Jahr, Fay M;
Kim, Nak-Kyeong;
Xie, Linying;
Shabalin, Andrey A;
Bryois, Julien;
Sweet, Douglas H;
Kronfol, Mohamad M;
Palasuberniam, Preetha;
McRae, MaryPeace

Publication type:

Article

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 18, p. 3177, doi. 10.1093/hmg/ddy220

By:

Fattahi, Zohreh;
Sheikh, Taimoor I;
Musante, Luciana;
Rasheed, Memoona;
Taskiran, Ibrahim Ihsan;
Harripaul, Ricardo;
Hu, Hao;
Kazeminasab, Somayeh;
Alam, Muhammad Rizwan;
Hosseini, Masoumeh

Publication type:

Article