Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 12

Results: 13

Corrigendum to: Drosophila clueless is involved in Parkin-dependent mitophagy by promoting VCP-mediated Marf degradation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2107, doi. 10.1093/hmg/ddaa092

By:

Wang, Zong-Heng;
Clark, Cheryl;
Geisbrecht, Erika R

Publication type:

Article

Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2035, doi. 10.1093/hmg/ddaa093

By:

Parrish, Phoebe C R;
Liu, Delong;
Knutsen, Russell H;
Billington, Charles J;
Mecham, Robert P;
Fu, Yi-Ping;
Kozel, Beth A

Publication type:

Article

Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2065, doi. 10.1093/hmg/ddaa094

By:

Vaidyanathan, Radhika;
Schaller, Fabienne;
Muscatelli, Françoise;
Hammock, Elizabeth A D

Publication type:

Article

The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2076, doi. 10.1093/hmg/ddaa096

By:

Barnum, Carrie E;
Saai, Salma Al;
Patel, Shaili D;
Cheng, Catherine;
Anand, Deepti;
Xu, Xiaolu;
Dash, Soma;
Siddam, Archana D;
Glazewski, Lisa;
Paglione, Emily;
Polson, Shawn W;
Chuma, Shinichiro;
Mason, Robert W;
Wei, Shuo;
Batish, Mona;
Fowler, Velia M;
Lachke, Salil A

Publication type:

Article

Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader–Willi syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2051, doi. 10.1093/hmg/ddaa084

By:

Pace, Marta;
Colombi, Ilaria;
Falappa, Matteo;
Freschi, Andrea;
Bandarabadi, Mojtaba;
Armirotti, Andrea;
Encarnación, Blanco María;
Adamantidis, Antoine R;
Amici, Roberto;
Cerri, Matteo;
Chiappalone, Michela;
Tucci, Valter

Publication type:

Article

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 1933, doi. 10.1093/hmg/ddz317

By:

Massaro, Giulia;
Hughes, Michael P;
Whaler, Sammie M;
Wallom, Kerri-Lee;
Priestman, David A;
Platt, Frances M;
Waddington, Simon N;
Rahim, Ahad A

Publication type:

Article

The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 1950, doi. 10.1093/hmg/ddz296

By:

Castillon, Charlotte;
Gonzalez, Laurine;
Domenichini, Florence;
Guyon, Sandrine;
Silva, Kevin Da;
Durand, Christelle;
Lestaevel, Philippe;
Vaillend, Cyrille;
Laroche, Serge;
Barnier, Jean-Vianney;
Poirier, Roseline

Publication type:

Article

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2022, doi. 10.1093/hmg/ddaa057

By:

Ratnapriya, Rinki;
Acar, İlhan E;
Geerlings, Maartje J;
Branham, Kari;
Kwong, Alan;
Saksens, Nicole T M;
Pauper, Marc;
Corominas, Jordi;
Kwicklis, Madeline;
Zipprer, David;
Starostik, Margaret R;
Othman, Mohammad;
Yashar, Beverly;
Abecasis, Goncalo R;
Chew, Emily Y;
Ferrington, Deborah A;
Hoyng, Carel B;
Swaroop, Anand;
Hollander, Anneke I den

Publication type:

Article

Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 1986, doi. 10.1093/hmg/ddaa021

By:

Schmitt, Heather M;
Johnson, William M;
Aboobakar, Inas F;
Strickland, Shelby;
Gomez-Caraballo, María;
Parker, Megan;
Finnegan, Laura;
Corcoran, David L;
Skiba, Nikolai P;
Allingham, R Rand;
Hauser, Michael A;
Stamer, W Daniel

Publication type:

Article

Tmc proteins are essential for zebrafish hearing where Tmc1 is not obligatory.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2004, doi. 10.1093/hmg/ddaa045

By:

Chen, Zongwei;
Zhu, Shaoyuan;
Kindig, Kayla;
Wang, Shengxuan;
Chou, Shih-Wei;
Davis, Robin Woods;
Dercoli, Michael R;
Weaver, Hannah;
Stepanyan, Ruben;
McDermott, Brian M

Publication type:

Article

Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2098, doi. 10.1093/hmg/ddaa054

By:

Lee, Matthew A;
McMahon, George;
Karhunen, Ville;
Wade, Kaitlin H;
Corbin, Laura J;
Hughes, David A;
Smith, George Davey;
Lawlor, Debbie A;
Jarvelin, Marjo-Riitta;
Timpson, Nicholas J

Publication type:

Article

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 1996, doi. 10.1093/hmg/ddaa035

By:

Rosen, Samantha M;
Joshi, Mugdha;
Hitt, Talia;
Beggs, Alan H;
Agrawal, Pankaj B

Publication type:

Article

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 1969, doi. 10.1093/hmg/ddaa027

By:

Rashka, Charif;
Hergalant, Sébastien;
Dreumont, Natacha;
Oussalah, Abderrahim;
Camadro, Jean-Michel;
Marchand, Virginie;
Hassan, Ziad;
Baumgartner, Matthias R;
Rosenblatt, David S;
Feillet, François;
Guéant, Jean-Louis;
Flayac, Justine;
Coelho, David

Publication type:

Article