Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 7

Results: 15

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1212, doi. 10.1093/hmg/ddy435

By:

Petty, Lauren E;
Highland, Heather M;
Gamazon, Eric R;
Hu, Hao;
Karhade, Mandar;
Chen, Hung-Hsin;
Vries, Paul S de;
Grove, Megan L;
Aguilar, David;
Bell, Graeme I;
Huff, Chad D;
Hanis, Craig L;
Doddapaneni, HarshaVardhan;
Munzy, Donna M;
Gibbs, Richard A;
Ma, Jianzhong;
Parra, Esteban J;
Cruz, Miguel;
Valladares-Salgado, Adan;
Arking, Dan E

Publication type:

Article

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1090, doi. 10.1093/hmg/ddy415

By:

Peter, Bradley;
Farge, Geraldine;
Pardo-Hernandez, Carlos;
Tångefjord, Stefan;
Falkenberg, Maria

Publication type:

Article

Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1153, doi. 10.1093/hmg/ddy421

By:

Gabriele, Stefano;
Canali, Marco;
Lintas, Carla;
Sacco, Roberto;
Tirindelli, Maria Cristina;
Ricciardello, Arianna;
Persico, Antonio M

Publication type:

Article

Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1117, doi. 10.1093/hmg/ddy418

By:

Randazzo, Davide;
Khalique, Umara;
Belanto, Joseph J;
Kenea, Aster;
Talsness, Dana M;
Olthoff, John T;
Tran, Michelle D;
Zaal, Kristien J;
Pak, Katherine;
Pinal-Fernandez, Iago;
Mammen, Andrew L;
Sackett, Dan;
Ervasti, James M;
Ralston, Evelyn

Publication type:

Article

Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1162, doi. 10.1093/hmg/ddy422

By:

Gao, X Raymond;
Huang, Hua;
Kim, Heejin

Publication type:

Article

CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1183, doi. 10.1093/hmg/ddy428

By:

Yamamoto, Keiko;
Kawai, Masanobu;
Yamazaki, Miwa;
Tachikawa, Kanako;
Kubota, Takuo;
Ozono, Keiichi;
Michigami, Toshimi

Publication type:

Article

Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1076, doi. 10.1093/hmg/ddy382

By:

Long, Kimberly K;
O'Shea, Karen M;
Khairallah, Ramzi J;
Howell, Kelly;
Paushkin, Sergey;
Chen, Karen S;
Cote, Shaun M;
Webster, Micah T;
Stains, Joseph P;
Treece, Erin;
Buckler, Alan;
Donovan, Adriana

Publication type:

Article

Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1136, doi. 10.1093/hmg/ddy419

By:

Qiang, Liang;
Piermarini, Emanuela;
Muralidharan, Hemalatha;
Yu, Wenqian;
Leo, Lanfranco;
Hennessy, Laura E;
Fernandes, Silvia;
Connors, Theresa;
Yates, Philip L;
Swift, Michelle;
Zholudeva, Lyandysha V;
Lane, Michael A;
Morfini, Gerardo;
Alexander, Guillermo M;
Heiman-Patterson, Terry D;
Baas, Peter W

Publication type:

Article

Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1225, doi. 10.1093/hmg/ddy408

By:

Zanon, Alessandra;
Kalvakuri, Sreehari;
Rakovic, Aleksandar;
Foco, Luisa;
Guida, Marianna;
Schwienbacher, Christine;
Serafin, Alice;
Rudolph, Franziska;
Trilck, Michaela;
Grünewald, Anne;
Stanslowsky, Nancy;
Wegner, Florian;
Giorgio, Valentina;
Lavdas, Alexandros A;
Bodmer, Rolf;
Pramstaller, Peter P;
Klein, Christine;
Hicks, Andrew A;
Pichler, Irene;
Philip, Seibler

Publication type:

Article

Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1053, doi. 10.1093/hmg/ddy373

By:

Chimusa, Emile R;
Beighton, Peter;
Kumuthini, Judit;
Ramesar, Rajkumar S

Publication type:

Article

Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1173, doi. 10.1093/hmg/ddy414

By:

Li, Airong;
Peng, Yang;
Taiclet, Lauren M;
Tanzi, Rudolph E

Publication type:

Article

PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1100, doi. 10.1093/hmg/ddy413

By:

Zhou, Wei;
Ma, Dongrui;
Sun, Alfred Xuyang;
Tran, Hoang-Dai;
Ma, Dong-liang;
Singh, Brijesh K;
Zhou, Jin;
Zhang, Jinyan;
Wang, Danlei;
Zhao, Yi;
Yen, Paul M;
Goh, Eyleen;
Tan, Eng-King

Publication type:

Article

Sequence variants associating with urinary biomarkers.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1199, doi. 10.1093/hmg/ddy409

By:

Benonisdottir, Stefania;
Kristjansson, Ragnar P;
Oddsson, Asmundur;
Steinthorsdottir, Valgerdur;
Mikaelsdottir, Evgenia;
Kehr, Birte;
Jensson, Brynjar O;
Arnadottir, Gudny A;
Sulem, Gerald;
Sveinbjornsson, Gardar;
Kristmundsdottir, Snaedis;
Ivarsdottir, Erna V;
Tragante, Vinicius;
Gunnarsson, Bjarni;
Runolfsdottir, Hrafnhildur Linnet;
Arthur, Joseph G;
Deaton, Aimee M;
Eyjolfsson, Gudmundur I;
Davidsson, Olafur B;
Asselbergs, Folkert W

Publication type:

Article

Corrigendum: Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1226, doi. 10.1093/hmg/ddy407

By:

Russo, Arianna;
Scardigli, Raffaella;
Regina, Federico La;
Murray, Melissa E;
Romano, Nicla;
Dickson, Dennis W;
Wolozin, Benjamin;
Cattaneo, Antonino;
Ceci, Marcello

Publication type:

Article

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 7, p. 1064, doi. 10.1093/hmg/ddy400

By:

van den Heuvel, Anita;
Mahfouz, Ahmed;
Kloet, Susan L;
Balog, Judit;
Engelen, Baziel G M van;
Tawil, Rabi;
Tapscott, Stephen J;
Maarel, Silvère M van der

Publication type:

Article