Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 16

Results: 14

Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2648, doi. 10.1093/hmg/ddz081

By:

Rudell, John B;
Maselli, Ricardo A;
Yarov-Yarovoy, Vladimir;
Ferns, Michael J

Publication type:

Article

A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2775, doi. 10.1093/hmg/ddz106

By:

Cheong, Agnes;
Degani, Rinat;
Tremblay, Kimberly D;
Mager, Jesse

Publication type:

Article

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091

By:

Dupont, Marie Alice;
Humbert, Camille;
Huber, Céline;
Siour, Quentin;
Guerrera, Ida Chiara;
Jung, Vincent;
Christensen, Anni;
Pouliet, Aurore;
Garfa-Traoré, Meriem;
Nitschké, Patrick;
Injeyan, Marie;
Millar, Kathryn;
Chitayat, David;
Shannon, Patrick;
Girisha, Katta Mohan;
Shukla, Anju;
Mechler, Charlotte;
Lorentzen, Esben;
Benmerah, Alexandre;
Cormier-Daire, Valérie

Publication type:

Article

MiR-144 overexpression as a promising therapeutic strategy to overcome glioblastoma cell invasiveness and resistance to chemotherapy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2738, doi. 10.1093/hmg/ddz099

By:

Cardoso, Ana M S;
Sousa, Madalena;
Morais, Catarina M;
Oancea-Castillo, Liliana R;
Régnier-Vigouroux, Anne;
Rebelo, Olinda;
Tão, Hermínio;
Barbosa, Marcos;
Pedroso, Maria C de Lima;
Jurado, Amália S

Publication type:

Article

Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2659, doi. 10.1093/hmg/ddz084

By:

Zhu, Yihui;
Mordaunt, Charles E;
Yasui, Dag H;
Marathe, Ria;
Coulson, Rochelle L;
Dunaway, Keith W;
Jianu, Julia M;
Walker, Cheryl K;
Ozonoff, Sally;
Hertz-Picciotto, Irva;
Schmidt, Rebecca J;
LaSalle, Janine M

Publication type:

Article

Laminin-111 protein therapy enhances muscle regeneration and repair in the GRMD dog model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2686, doi. 10.1093/hmg/ddz086

By:

Barraza-Flores, Pamela;
Fontelonga, Tatiana M;
Wuebbles, Ryan D;
Hermann, Hailey J;
Nunes, Andreia M;
Kornegay, Joe N;
Burkin, Dean J

Publication type:

Article

LRRK2 interacts with the vacuolar-type H<sup>+</sup>-ATPase pump a1 subunit to regulate lysosomal function.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2696, doi. 10.1093/hmg/ddz088

By:

Wallings, Rebecca;
Connor-Robson, Natalie;
Wade-Martins, Richard

Publication type:

Article

Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2752, doi. 10.1093/hmg/ddz095

By:

Rhodes, Steven D;
He, Yongzheng;
Smith, Abbi;
Jiang, Li;
Lu, Qingbo;
Mund, Julie;
Li, Xiaohong;
Bessler, Waylan;
Qian, Shaomin;
Dyer, William;
Sandusky, George E;
Horvai, Andrew E;
Armstrong, Amy E;
Clapp, D Wade

Publication type:

Article

Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2635, doi. 10.1093/hmg/ddz068

By:

Sayed-Zahid, Ambreen A;
Sher, Roger B;
Rizzo, Stacey J Sukoff;
Anderson, Laura C;
Patenaude, Kathryn E;
Cox, Gregory A

Publication type:

Article

Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2785, doi. 10.1093/hmg/ddz101

By:

Shi, Wentao;
Louzada, Sandra;
Grigorova, Marina;
Massaia, Andrea;
Arciero, Elena;
Kibena, Laura;
Ge, Xiangyu Jack;
Chen, Yuan;
Ayub, Qasim;
Poolamets, Olev;
Tyler-Smith, Chris;
Punab, Margus;
Laan, Maris;
Yang, Fengtang;
Hallast, Pille;
Xue, Yali

Publication type:

Article

Cellular stressors may alter islet hormone cell proportions by moderation of alternative splicing patterns.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2763, doi. 10.1093/hmg/ddz094

By:

Jeffery, Nicola;
Richardson, Sarah;
Chambers, David;
Morgan, Noel G;
Harries, Lorna W

Publication type:

Article

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093

By:

Bugiardini, Enrico;
Mitchell, Alice L;
Rosa, Ilaria Dalla;
Horning-Do, Hue-Tran;
Pitmann, Alan M;
Poole, Olivia V;
Holton, Janice L;
Shah, Sachit;
Woodward, Cathy;
Hargreaves, Iain;
Quinlivan, Rosaline;
Amunts, Alexey;
Wiesner, Rudolf J;
Houlden, Henry;
Holt, Ian J;
Hanna, Michael G;
Pitceathly, Robert D S;
Spinazzola, Antonella

Publication type:

Article

Motor neurons from ALS patients with mutations in C9ORF72 and SOD1 exhibit distinct transcriptional landscapes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2799, doi. 10.1093/hmg/ddz104

By:

Wong, Ching-On;
Venkatachalam, Kartik

Publication type:

Article

Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 16, p. 2675, doi. 10.1093/hmg/ddz085

By:

Helgadottir, Hafdis T;
Lundin, Pär;
Arzt, Emelie Wallén;
Lindström, Anna-Karin;
Graff, Caroline;
Eriksson, Maria

Publication type:

Article