Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 13

Results: 15

Sunitinib promotes myogenic regeneration and mitigates disease progression in the mdx mouse model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2120, doi. 10.1093/hmg/ddz044

By:

Fontelonga, Tatiana M;
Jordan, Brennan;
Nunes, Andreia M;
Barraza-Flores, Pamela;
Bolden, Nicholas;
Wuebbles, Ryan D;
Griner, Lesley Mathews;
Hu, Xin;
Ferrer, Marc;
Marugan, Juan;
Southall, Noel;
Burkin, Dean J

Publication type:

Article

Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2143, doi. 10.1093/hmg/ddz048

By:

Baron, Desiree M;
Matheny, Tyler;
Lin, Yen-Chen;
Leszyk, John D;
Kenna, Kevin;
Gall, Katherine V;
Santos, David P;
Tischbein, Maeve;
Funes, Salome;
Hayward, Lawrence J;
Kiskinis, Evangelos;
Landers, John E;
Parker, Roy;
Shaffer, Scott A;
Bosco, Daryl A

Publication type:

Article

potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2189, doi. 10.1093/hmg/ddz049

By:

Guiraud, Simon;
Edwards, Benjamin;
Babbs, Arran;
Squire, Sarah E;
Berg, Adam;
Moir, Lee;
Wood, Matthew J;
Davies, Kay E

Publication type:

Article

PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2224, doi. 10.1093/hmg/ddz043

By:

Banerji, Christopher R S;
Zammit, Peter S

Publication type:

Article

Pathological mTOR mutations impact cortical development.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2107, doi. 10.1093/hmg/ddz042

By:

Tarkowski, Bartosz;
Kuchcinska, Kinga;
Blazejczyk, Magdalena;
Jaworski, Jacek

Publication type:

Article

Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2282, doi. 10.1093/hmg/ddz037

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2271, doi. 10.1093/hmg/ddz051

By:

Wong, Wan-Rong;
Brugman, Katherine I;
Maher, Shayda;
Oh, Jun Young;
Howe, Kevin;
Kato, Mihoko;
Sternberg, Paul W

Publication type:

Article

Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2255, doi. 10.1093/hmg/ddz050

By:

Zieman, Abigail G;
Poll, Brian G;
Ma, Jingqun;
Coulombe, Pierre A

Publication type:

Article

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2133, doi. 10.1093/hmg/ddz046

By:

Fusco, Carmela;
Nardella, Grazia;
Fischetto, Rita;
Copetti, Massimiliano;
Petracca, Antonio;
Annunziata, Francesca;
Augello, Bartolomeo;
D'Asdia, Maria Cecilia;
Petrucci, Simona;
Mattina, Teresa;
Rella, Annalisa;
Cassina, Matteo;
Bengala, Mario;
Biagini, Tommaso;
Causio, Francesco Andrea;
Caldarini, Camilla;
Brancati, Francesco;
Luca, Alessandro De;
Guarnieri, Vito;
Micale, Lucia

Publication type:

Article

longitudinal multimodal in vivo molecular imaging study of the 3xTg-AD mouse model shows progressive early hippocampal and taurine loss.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2174, doi. 10.1093/hmg/ddz045

By:

Chiquita, Samuel;
Ribeiro, Mário;
Castelhano, João;
Oliveira, Francisco;
Sereno, José;
Batista, Marta;
Abrunhosa, Antero;
Rodrigues-Neves, Ana C;
Carecho, Rafael;
Baptista, Filipa;
Gomes, Catarina;
Moreira, Paula I;
Ambrósio, António F;
Castelo-Branco, Miguel

Publication type:

Article

Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2212, doi. 10.1093/hmg/ddz053

By:

Nesmith, Jessica E;
Hostelley, Timothy L;
Leitch, Carmen C;
Matern, Maggie S;
Sethna, Saumil;
McFarland, Rebecca;
Lodh, Sukanya;
Westlake, Christopher J;
Hertzano, Ronna;
Ahmed, Zubair M;
Zaghloul, Norann A

Publication type:

Article

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2201, doi. 10.1093/hmg/ddz052

By:

Wong, Chloe C Y;
Smith, Rebecca G;
Hannon, Eilis;
Ramaswami, Gokul;
Parikshak, Neelroop N;
Assary, Elham;
Troakes, Claire;
Poschmann, Jeremie;
Schalkwyk, Leonard C;
Sun, Wenjie;
Prabhakar, Shyam;
Geschwind, Daniel H;
Mill, Jonathan

Publication type:

Article

BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2161, doi. 10.1093/hmg/ddz047

By:

Chowdhury, H M;
Sharmin, N;
Baran, Merve Yuzbasioglu;
Long, L;
Morrell, N W;
Trembath, R C;
Nasim, Md Talat

Publication type:

Article

Alteration of performance in a mouse model of Emery–Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2237, doi. 10.1093/hmg/ddz056

By:

Thomasson, Rémi;
Vignier, Nicolas;
Peccate, Cecile;
Mougenot, Nathalie;
Noirez, Philippe;
Muchir, Antoine

Publication type:

Article

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 13, p. 2245, doi. 10.1093/hmg/ddz055

By:

Overend, Gayle;
Légaré, Cécilia;
Mathieu, Jean;
Bouchard, Luigi;
Gagnon, Cynthia;
Monckton, Darren G

Publication type:

Article