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Outputs (3)

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa (2018)
Journal Article
Buskin, A., Zhu, L., Chichagova, V., Basu, B., Mozaffari-Jovin, S., Dolan, D., …Lako, M. (2018). Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9(1), Article 4234. https://doi.org/10.1038/s41467-018-06448-y

Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcriptome profiles from RP... Read More about Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

PyCoTools: a Python toolbox for COPASI (2018)
Journal Article
Welsh, C. M., Fullard, N., Proctor, C. J., Martinez-Guimera, A., Isfort, R. J., Bascom, C. C., …Shanley, D. P. (2018). PyCoTools: a Python toolbox for COPASI. Bioinformatics, 34(21), 3702-3710. https://doi.org/10.1093/bioinformatics/bty409

Motivation COPASI is an open source software package for constructing, simulating and analyzing dynamic models of biochemical networks. COPASI is primarily intended to be used with a graphical user interface but often it is desirable to be able to ac... Read More about PyCoTools: a Python toolbox for COPASI.

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors (2018)
Journal Article
Melguizo-Sanchis, D., Xu, Y., Taheem, D., Yu, M., Tilgner, K., Barta, T., …Lako, M. (2018). iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors. Cell Death and Disease, 9(2), Article 128. https://doi.org/10.1038/s41419-017-0141-1

Aplastic Anemia (AA) is a bone marrow failure (BMF) disorder, resulting in bone marrow hypocellularity and peripheral pancytopenia. Severe aplastic anemia (SAA) is a subset of AA defined by a more severe phenotype. Although the immunological nature o... Read More about iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.