Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 17

Results: 13

Learning impairments and molecular changes in the brain caused by β-catenin loss.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2965, doi. 10.1093/hmg/ddz115

By:

Wickham, Robert J;
Alexander, Jonathan M;
Eden, Lillian W;
Valencia-Yang, Mabel;
Llamas, Josué;
Aubrey, John R;
Jacob, Michele H

Publication type:

Article

Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2862, doi. 10.1093/hmg/ddz098

By:

Seenivasan, Ramkumar;
Hermanns, Thomas;
Blyszcz, Tamara;
Lammers, Michael;
Praefcke, Gerrit J K;
Hofmann, Kay

Publication type:

Article

Tissue-specific sex differences in human gene expression.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2976, doi. 10.1093/hmg/ddz090

By:

Kassam, Irfahan;
Wu, Yang;
Yang, Jian;
Visscher, Peter M;
McRae, Allan F

Publication type:

Article

A mouse model of Proteus syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2920, doi. 10.1093/hmg/ddz116

By:

Lindhurst, Marjorie J;
Brinster, Lauren R;
Kondolf, Hannah C;
Shwetar, Jasmine J;
Yourick, Miranda R;
Shiferaw, Henoke;
Keppler-Noreuil, Kim M;
Elliot, Gene;
Rivas, Cecilia;
Garrett, Lisa;
Gomez-Rodriguez, Julio;
Sebire, Neil J;
Hewitt, Stephen M;
Schwartzberg, Pamela L;
Biesecker, Leslie G

Publication type:

Article

PTEN modulates gene transcription by redistributing genome-wide RNA polymerase II occupancy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2826, doi. 10.1093/hmg/ddz112

By:

Abbas, Ata;
Padmanabhan, Roshan;
Romigh, Todd;
Eng, Charis

Publication type:

Article

Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2874, doi. 10.1093/hmg/ddz103

By:

Zhou, Xiaoshan;
Curbo, Sophie;
Zhao, Qian;
Krishnan, Shuba;
Kuiper, Raoul;
Karlsson, Anna

Publication type:

Article

Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2851, doi. 10.1093/hmg/ddz102

By:

Lupori, Leonardo;
Sagona, Giulia;
Fuchs, Claudia;
Mazziotti, Raffaele;
Stefanov, Antonia;
Putignano, Elena;
Napoli, Debora;
Strettoi, Enrica;
Ciani, Elisabetta;
Pizzorusso, Tommaso

Publication type:

Article

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111

By:

Cheng, Hanyin;
Gottlieb, Leah;
Marchi, Elaine;
Kleyner, Robert;
Bhardwaj, Puja;
Rope, Alan F;
Rosenheck, Sarah;
Moutton, Sébastien;
Philippe, Christophe;
Eyaid, Wafaa;
Alkuraya, Fowzan S;
Toribio, Janet;
Mena, Rafael;
Prada, Carlos E;
Stessman, Holly;
Bernier, Raphael;
Wermuth, Marieke;
Kauffmann, Birgit;
Blaumeiser, Bettina;
Kooy, R Frank

Publication type:

Article

Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2952, doi. 10.1093/hmg/ddz123

By:

Yuskaitis, Christopher J;
Rossitto, Leigh-Ana;
Gurnani, Sarika;
Bainbridge, Elizabeth;
Poduri, Annapurna;
Sahin, Mustafa

Publication type:

Article

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117

By:

Liang, Lina;
Li, Xia;
Moutton, Sébastien;
Vergano, Samantha A Schrier;
Cogné, Benjamin;
Saint-Martin, Anne;
Hurst, Anna C E;
Hu, Yushuang;
Bodamer, Olaf;
Thevenon, Julien;
Hung, Christina Y;
Isidor, Bertrand;
Gerard, Bénédicte;
Rega, Adelaide;
Nambot, Sophie;
Lehalle, Daphné;
Duffourd, Yannis;
Thauvin-Robinet, Christel;
Faivre, Laurence;
Bézieau, Stéphane

Publication type:

Article

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2885, doi. 10.1093/hmg/ddz109

By:

Bender, Daniel;
Kaczmarek, Alexander Tobias;
Santamaria-Araujo, Jose Angel;
Stueve, Burkard;
Waltz, Stephan;
Bartsch, Deniz;
Kurian, Leo;
Cirak, Sebahattin;
Schwarz, Guenter

Publication type:

Article

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2811, doi. 10.1093/hmg/ddz080

By:

Yi, Wei;
MacDougall, Emma J;
Tang, Matthew Y;
Krahn, Andrea I;
Gan-Or, Ziv;
Trempe, Jean-François;
Fon, Edward A

Publication type:

Article

Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 17, p. 2835, doi. 10.1093/hmg/ddz107

By:

Bursch, Franziska;
Kalmbach, Norman;
Naujock, Maximilian;
Staege, Selma;
Eggenschwiler, Reto;
Abo-Rady, Masin;
Japtok, Julia;
Guo, Wenting;
Hensel, Niko;
Reinhardt, Peter;
Boeckers, Tobias M;
Cantz, Tobias;
Sterneckert, Jared;
Bosch, Ludo Van Den;
Hermann, Andreas;
Petri, Susanne;
Wegner, Florian

Publication type:

Article