Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 12

Results: 12

UBE3A regulates the transcription of IRF, an antiviral immunity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 1947, doi. 10.1093/hmg/ddz019

By:

Furumai, Ryohei;
Tamada, Kota;
Liu, Xiaoxi;
Takumi, Toru

Publication type:

Article

Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 1971, doi. 10.1093/hmg/ddz033

By:

Zhou, Jin;
Ng, Benjamin;
Ko, Nicole S J;
Fiedler, Lorna R;
Khin, Ester;
Lim, Andrea;
Sahib, Norliza E;
Wu, Yajun;
Chothani, Sonia P;
Schafer, Sebastian;
Bay, Boon-Huat;
Sinha, Rohit A;
Cook, Stuart A;
Yen, Paul M

Publication type:

Article

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2078, doi. 10.1093/hmg/ddy443

By:

Degenhardt, Frauke;
Wendorff, Mareike;
Wittig, Michael;
Ellinghaus, Eva;
Datta, Lisa W;
Schembri, John;
Ng, Siew C;
Rosati, Elisa;
Hübenthal, Matthias;
Ellinghaus, David;
Jung, Eun Suk;
Lieb, Wolfgang;
Abedian, Shifteh;
Malekzadeh, Reza;
Cheon, Jae Hee;
Ellul, Pierre;
Sood, Ajit;
Midha, Vandana;
Thelma, B K;
Wong, Sunny H

Publication type:

Article

Cellular α -synuclein pathology is associated with bioenergetic dysfunction in Parkinson's iPSC-derived dopamine neurons.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2001, doi. 10.1093/hmg/ddz038

By:

Zambon, Federico;
Cherubini, Marta;
Fernandes, Hugo J R;
Lang, Charmaine;
Ryan, Brent J;
Volpato, Viola;
Bengoa-Vergniory, Nora;
Vingill, Siv;
Attar, Moustafa;
Booth, Heather D E;
Haenseler, Walther;
Vowles, Jane;
Bowden, Rory;
Webber, Caleb;
Cowley, Sally A;
Wade-Martins, Richard

Publication type:

Article

study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2093, doi. 10.1093/hmg/ddz018

By:

Zorina-Lichtenwalter, Katerina;
Lichtenwalter, Ryan N;
Zaykin, Dima V;
Parisien, Marc;
Gravel, Simon;
Bortsov, Andrey;
Diatchenko, Luda

Publication type:

Article

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 1931, doi. 10.1093/hmg/ddy449

By:

Festa, Beatrice Paola;
Berquez, Marine;
Gassama, Alkaly;
Amrein, Irmgard;
Ismail, Hesham M;
Samardzija, Marijana;
Staiano, Leopoldo;
Luciani, Alessandro;
Grimm, Christian;
Nussbaum, Robert L;
Matteis, Maria Antonietta De;
Dorchies, Olivier M;
Scapozza, Leonardo;
Wolfer, David Paul;
Devuyst, Olivier

Publication type:

Article

Mineralocorticoid receptor antagonists improve membrane integrity independent of muscle force in muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2030, doi. 10.1093/hmg/ddz039

By:

Hauck, J Spencer;
Lowe, Jeovanna;
Rastogi, Neha;
McElhanon, Kevin E;
Petrosino, Jennifer M;
Peczkowski, Kyra K;
Chadwick, Ashlee N;
Zins, Jonathan G;
Accornero, Federica;
Janssen, Paul M L;
Weisleder, Noah L;
Rafael-Fortney, Jill A

Publication type:

Article

HDAC inhibitors rescue multiple disease-causing CFTR variants.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 1982, doi. 10.1093/hmg/ddz026

By:

Anglès, Frédéric;
Hutt, Darren M;
Balch, William E

Publication type:

Article

Disturbed neurotransmitter homeostasis in ether lipid deficiency.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2046, doi. 10.1093/hmg/ddz040

By:

Dorninger, Fabian;
König, Theresa;
Scholze, Petra;
Berger, Michael L;
Zeitler, Gerhard;
Wiesinger, Christoph;
Gundacker, Anna;
Pollak, Daniela D;
Huck, Sigismund;
Just, Wilhelm W;
Forss-Petter, Sonja;
Pifl, Christian;
Berger, Johannes

Publication type:

Article

Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2062, doi. 10.1093/hmg/ddz054

By:

Sharapov, Sodbo Zh;
Tsepilov, Yakov A;
Klaric, Lucija;
Mangino, Massimo;
Thareja, Gaurav;
Shadrina, Alexandra S;
Simurina, Mirna;
Dagostino, Concetta;
Dmitrieva, Julia;
Vilaj, Marija;
Vuckovic, Frano;
Pavic, Tamara;
Stambuk, Jerko;
Trbojevic-Akmacic, Irena;
Kristic, Jasminka;
Simunovic, Jelena;
Momcilovic, Ana;
Campbell, Harry;
Doherty, Margaret;
Dunlop, Malcolm G

Publication type:

Article

Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 2014, doi. 10.1093/hmg/ddz034

By:

Huichalaf, Claudia H;
Al-Ramahi, Ismael;
Park, Kyung-Won;
Grunke, Stacy D;
Lu, Nan;
Haro, Maria de;
El-Zein, Karla;
Gallego-Flores, Tatiana;
Perez, Alma M;
Jung, Sung Yun;
Botas, Juan;
Zoghbi, Huda Y;
Jankowsky, Joanna L

Publication type:

Article

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 12, p. 1959, doi. 10.1093/hmg/ddz029

By:

Ouyang, Jiamin;
Sun, Wenmin;
Xiao, Xueshan;
Li, Shiqiang;
Jia, Xiaoyun;
Zhou, Lin;
Wang, Panfeng;
Zhang, Qingjiong

Publication type:

Article