Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 19

Results: 12

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3266, doi. 10.1093/hmg/ddaa202

By:

Al-Shekaili, Hilal H.;
Petkau, Terri L.;
Pena, Izabella;
Lengyell, Tess C.;
Verhoeven-Duif, Nanda M.;
Ciapaite, Jolita;
Bosma, Marjolein;
van Faassen, Martijn;
Kema, Ido P.;
Horvath, Gabriella;
Ross, Colin;
Simpson, Elizabeth M.;
Friedman, Jan M.;
van Karnebeek, Clara;
Leavitt, Blair R.

Publication type:

Article

Dystroglycan regulates proper expression, submembranous localization and subsequent phosphorylation of Dp71 through physical interaction.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3312, doi. 10.1093/hmg/ddaa217

By:

Takahiro Fujimoto;
Takeshi Yaoi;
Hidekazu Tanaka;
Kyoko Itoh

Publication type:

Article

Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3285, doi. 10.1093/hmg/ddaa210

By:

Langouët, Maéva;
Gorka, Dea;
Orniacki, Clarisse;
Dupont-Thibert, Clémence M.;
Chung, Michael S.;
Glatt-Deeley, Heather R.;
Germain, Noelle;
Crandall, Leann J.;
Cotney, Justin L.;
Stoddard, Christopher E.;
Lalande, Marc;
Chamberlain, Stormy J.

Publication type:

Article

LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3183, doi. 10.1093/hmg/ddaa200

By:

Christ, Annabel;
Marczenke, Maike;
Willnow, Thomas E

Publication type:

Article

Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3338, doi. 10.1093/hmg/ddaa190

By:

Athanasiou, Dimitra;
Bevilacqua, Dalila;
Aguila, Monica;
McCulley, Caroline;
Kanuga, Naheed;
Takao Iwawaki;
Chapple, J. Paul;
Cheetham, Michael E.

Publication type:

Article

Assembly of the [4Fe–4S] cluster of NFU1 requires the coordinated donation of two [2Fe–2S] clusters from the scaffold proteins, ISCU2 and ISCA1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3165, doi. 10.1093/hmg/ddaa172

By:

Jain, Anshika;
Singh, Anamika;
Maio, Nunziata;
Rouault, Tracey A

Publication type:

Article

Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3224, doi. 10.1093/hmg/ddaa209

By:

Wenfei Liu;
Orjona Taso;
Rui Wang;
Bayram, Sevinc;
Graham, Andrew C.;
Garcia-Reitboeck, Pablo;
Mallach, Anna;
Andrews, William D.;
Piers, Thomas M.;
Botia, Juan A.;
Pocock, Jennifer M.;
Cummings, Damian M.;
Hardy, John;
Edwards, Frances A.;
Salih, Dervis A.

Publication type:

Article

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3249, doi. 10.1093/hmg/ddaa212

By:

Chopra, Ravi;
Bushart, David D.;
Cooper, John P.;
Yellajoshyula, Dhananjay;
Morrison, Logan M.;
Huang, Haoran;
Handler, Hillary P.;
Man, Luke J.;
Dansithong, Warunee;
Scoles, Daniel R.;
Pulst, Stefan M.;
Orr, Harry T.;
Shakkottai, Vikram G.

Publication type:

Article

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3296, doi. 10.1093/hmg/ddaa214

By:

González-García, Pilar;
Hidalgo-Gutiérrez, Agustín;
Mascaraque, Cristina;
Barriocanal-Casado, Eliana;
Bakkali, Mohammed;
Ziosi, Marcello;
Abdihankyzy, Ussipbek Botagoz;
Sánchez-Hernández, Sabina;
Escames, Germaine;
Prokisch, Holger;
Martín, Francisco;
Quinzii, Catarina M.;
López, Luis C.

Publication type:

Article

Regulation of telomeric function by DNA methylation differs between humans and mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3197, doi. 10.1093/hmg/ddaa206

By:

Toubiana, Shir;
Larom, Gal;
Smoom, Riham;
Duszynski, Robert J.;
Godley, Lucy A.;
Francastel, Claire;
Velasco, Guillaume;
Selig, Sara

Publication type:

Article

Brain ventricular enlargement in human and murine acute intermittent porphyria.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3211, doi. 10.1093/hmg/ddaa204

By:

Jericó, Daniel;
Luis, Elkin O.;
Cussó, Lorena;
Fernández-Seara, María A.;
Morales, Xabier;
Córdoba, Karol M.;
Benito, Marina;
Sampedro, Ana;
Larriva, María;
Ramírez, María J.;
de Salamanca, Rafael Enríquez;
Ortiz-de-Solorzano, Carlos;
Alegre, Manuel;
Prieto, Jesús;
Lanciego, José Luis;
D’Avola, Delia;
González-Aseguinolaza, Gloria;
Pastor, María A.;
Desco, Manuel;
Fontanellas, Antonio

Publication type:

Article

Genetic determinants of increased body mass index mediate the effect of smoking on increased risk for type 2 diabetes but not coronary artery disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 19, p. 3327, doi. 10.1093/hmg/ddaa193

By:

Thom, Christopher S.;
Zhuoran Ding;
Levin, Michael G.;
Damrauer, Scott M.;
Kyung Min Lee;
Lynch, Julie;
Kyong-Mi Chang;
Tsao, Philip S.;
Cho, Kelly;
Wilson, Peter W. F.;
Assimes, Themistocles L.;
Sun, Yan V.;
O’Donnell, Christopher J.;
Vujkovic, Marijana;
Voight, Benjamin F.

Publication type:

Article