@article {3132750,
	title = {Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD},
	journal = {Hum Mol Genet},
	volume = {28},
	number = {20},
	year = {2019},
	note = {1460-2083Yanay, NuritElbaz, MoranKonikov-Rozenman, JenyaElgavish, SharonaNevo, YuvalFellig, YakovRabie, MalcolmMitrani-Rosenbaum, StellaNevo, YoramJournal ArticleResearch Support, Non-U.S. Gov{\textquoteright}tEnglandHum Mol Genet. 2019 Oct 15;28(20):3369-3390. doi: 10.1093/hmg/ddz180.},
	month = {Oct 15},
	pages = {3369-3390},
	edition = {2019/07/28},
	abstract = {Congenital muscular dystrophy type-1A (Lama2-CMD) and Duchenne muscular dystrophy (DMD) result from deficiencies of laminin-α2 and dystrophin proteins, respectively. Although both proteins strengthen the sarcolemma, they are implicated in clinically distinct phenotypes. We used RNA-deep sequencing (RNA-Seq) of dy2J/dy2J, Lama2-CMD mouse model, skeletal muscle at 8\&nbsp;weeks of age to elucidate disease pathophysiology. This study is the first report of dy2J/dy2J model whole transcriptome profile. RNA-Seq of the mdx mouse model of DMD and wild-type (WT) mouse was carried as well in order to enable a novel comparison of dy2J/dy2J to mdx. A large group of shared differentially expressed genes (DEGs) was found in dy2J/dy2J and mdx models (1834 common DEGs, false discovery rate [FDR] \&lt; 0.05). Enrichment pathway analysis using ingenuity pathway analysis showed enrichment of inflammation, fibrosis, cellular movement, migration and proliferation of cells, apoptosis and necrosis in both mouse models (P-values 3E-10-9E-37). Via canonical pathway analysis, actin cytoskeleton, integrin, integrin-linked kinase, NF-kB, renin-angiotensin, epithelial-mesenchymal transition, and calcium signaling were also enriched and upregulated in both models (FDR \&lt; 0.05). Interestingly, significant downregulation of Pax7 was detected in dy2J/dy2J compared to upregulation of this key regeneration gene in mdx mice. Pax3 and Mamstr genes were also downregulated in dy2J/dy2J compared to WT mice. These results may explain the distinct disease course and severity in these models. While the mdx model at that stage shows massive regeneration, the dy2J/dy2J shows progressive dystrophic process. Our data deepen our understanding of the molecular pathophysiology and suggest new targets for additional therapies to upregulate regeneration in Lama2-CMD.},
	keywords = {Animals, Cell Movement/genetics/physiology, Cell Proliferation/genetics/physiology, Disease Models, Animal, Male, Mice, Mice, Inbred mdx, Muscle, Skeletal/*metabolism, Muscular Dystrophy, Duchenne/genetics/*metabolism, Necrosis/genetics/metabolism, PAX3 Transcription Factor/genetics/*metabolism, PAX7 Transcription Factor/genetics/*metabolism, Real-Time Polymerase Chain Reaction, Walker-Warburg Syndrome/genetics/metabolism},
	isbn = {0964-6906},
	url = {https://pubmed.ncbi.nlm.nih.gov/31348492},
	author = {Yanay, N. and Elbaz, M. and Konikov-Rozenman, J. and Elgavish, S. and Nevo, Y. and Fellig, Y. and Rabie, M. and Mitrani-Rosenbaum, S. and Nevo, Y.}
}
