Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I.

Autor: Omar Khalid, Moin U Vera, Philip L Gordts, N Matthew Ellinwood, Philip H Schwartz, Patricia I Dickson, Jeffrey D Esko, Raymond Y Wang

Publikováno v: PLoS ONE, Vol 11, Iss 3, p e0150850 (2016)

BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacem

Externí odkaz: https://doaj.org/article/a494804913604253b36c3b9f8bf30827

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Autor: Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)

Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro

Externí odkaz: https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1

Distinctive epigenomes characterize glioma stem cells and their response to differentiation cues

Autor: Dan Zhou, Bonnie M. Alver, Shuang Li, Ryan A. Hlady, Joyce J. Thompson, Mark A. Schroeder, Jeong-Heon Lee, Jingxin Qiu, Philip H. Schwartz, Jann N. Sarkaria, Keith D. Robertson

Publikováno v: Genome Biology, Vol 19, Iss 1, Pp 1-25 (2018)

Abstract Background Glioma stem cells (GSCs) are a subpopulation of stem-like cells that contribute to glioblastoma (GBM) aggressiveness, recurrence, and resistance to radiation and chemotherapy. Therapeutically targeting the GSC population may impro

Externí odkaz: https://doaj.org/article/06bbb5a54d654ef9a3902660f5f0ff55

Supplementary Data from A Novel DNMT3B Splice Variant Expressed in Tumor and Pluripotent Cells Modulates Genomic DNA Methylation Patterns and Displays Altered DNA Binding

Autor: Keith D. Robertson, Naohiro Terada, Philip H. Schwartz, Takashi Hamazaki, Johannes Vieweg, C. Robert Fields, Zhen Su, Jixiu Shan, Beth O. Van Emburgh, Suhasni Gopalakrishnan

Supplementary Data from A Novel DNMT3B Splice Variant Expressed in Tumor and Pluripotent Cells Modulates Genomic DNA Methylation Patterns and Displays Altered DNA Binding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84889c1dbbcd01dfa44e2750c08c6ed0
https://doi.org/10.1158/1541-7786.22521396.v1

Reproducible and efficient generation of functionally active neurons from human hiPSCs for preclinical disease modeling

Autor: Philip H. Schwartz, Nathan Ng, Kevin C. Ess, Yunyao Xie, Ryan J. Schutte, Diane K. O'Dowd

Publikováno v: Stem Cell Research, Vol 26, Iss, Pp 84-94 (2018)
Stem cell research
Xie, Y; Schutte, RJ; Nga, NN; Ess, KC; Schwartz, PH; & O'Dowd, DK. (2018). Reproducible and efficient generation of functionally active neurons from human hiPSCs for preclinical disease modeling. STEM CELL RESEARCH, 26, 84-94. doi: 10.1016/j.scr.2017.12.003. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/0496s20d

The use of human induced pluripotent stem cell (hiPSC)-derived neuronal cultures to study the mechanisms of neurological disorders is often limited by low efficiency and high variability in differentiation of functional neurons. Here we compare the f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd21133239c3d88f9d1704888bf0edcd
http://www.sciencedirect.com/science/article/pii/S1873506117302623