Search Results - "Santostefano, Katherine E."

Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine by Hamazaki, Takashi, El Rouby, Nihal, Fredette, Natalie C., Santostefano, Katherine E., Terada, Naohiro

“…Recent advances in DNA sequencing technologies are revealing how human genetic variations associate with differential health risks, disease susceptibilities,…”
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CRISPR/Cas9 knockout of USP18 enhances type I IFN responsiveness and restricts HIV‐1 infection in macrophages by Taylor, Jared P., Cash, Melanie N., Santostefano, Katherine E., Nakanishi, Mahito, Terada, Naohiro, Wallet, Mark A.

“…The IFN‐stimulated gene ubiquitin‐specific proteinase 18 (USP18) encodes a protein that negatively regulates T1 IFN signaling via stearic inhibition of JAK1…”
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Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy by Saha, Madhurima, Rizzo, Skylar A, Ramanathan, Manashwi, Hightower, Rylie M, Santostefano, Katherine E, Terada, Naohiro, Finkel, Richard S, Berg, Jonathan S, Chahin, Nizar, Pacak, Christina A, Wagner, Richard E, Alexander, Matthew S, Draper, Isabelle, Kang, Peter B

“…Abstract MEGF10 myopathy is a rare inherited muscle disease that is named after the causative gene, MEGF10. The classic phenotype, early onset myopathy,…”
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Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes by Wallet, Mark A, Santostefano, Katherine E, Terada, Naohiro, Brusko, Todd M

“…At least 57 independent loci within the human genome confer varying degrees of risk for the development of type 1 diabetes (T1D). The majority of these…”
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Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation by Kuang, Yu-Lin, Munoz, Antonio, Nalula, Gilbert, Santostefano, Katherine E., Sanghez, Valentina, Sanchez, Gabriela, Terada, Naohiro, Mattis, Aras N., Iacovino, Michelina, Iribarren, Carlos, Krauss, Ronald M., Medina, Marisa W.

“…Patient-derived induced pluripotent stem cells (iPSCs) have become a promising resource for exploring genetics of complex diseases, discovering new drugs, and…”
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Use of Induced Pluripotent Stem Cells to Build Isogenic Systems and Investigate Type 1 Diabetes by Armitage, Lucas H, Stimpson, Scott E, Santostefano, Katherine E, Sui, Lina, Ogundare, Similoluwa, Newby, Brittney N, Castro-Gutierrez, Roberto, Huber, Mollie K, Taylor, Jared P, Sharma, Prerana, Radichev, Ilian A, Perry, Daniel J, Fredette, Natalie C, Savinov, Alexei Y, Wallet, Mark A, Terada, Naohiro, Brusko, Todd M, Russ, Holger A, Chen, Jing, Egli, Dieter, Mathews, Clayton E

“…Type 1 diabetes (T1D) is a disease that arises due to complex immunogenetic mechanisms. Key cell-cell interactions involved in the pathogenesis of T1D are…”
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Fibroblast Growth Factor Receptor 2 Homodimerization Rapidly Reduces Transcription of the Pluripotency Gene Nanog without Dissociation of Activating Transcription Factors by Santostefano, Katherine E., Hamazaki, Takashi, Pardo, Carolina E., Kladde, Michael P., Terada, Naohiro

“…Nanog or Gata6-positive cells co-exist and are convertible within the inner cell mass of murine blastocysts and embryonic stem (ES) cells. Previous studies…”
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Vascular Smooth Muscle Cells From Hypertensive Patient‐Derived Induced Pluripotent Stem Cells to Advance Hypertension Pharmacogenomics by Biel, Nikolett M., Santostefano, Katherine E., DiVita, Bayli B., El Rouby, Nihal, Carrasquilla, Santiago D., Simmons, Chelsey, Nakanishi, Mahito, Cooper-DeHoff, Rhonda M., Johnson, Julie A., Terada, Naohiro

“…Induced pluripotent stem cell (iPSC) technology provides a great interface to bring the cells of hyptertensive patients with their genomic data into the…”
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Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis by Xia, Guangbin, Santostefano, Katherine E, Goodwin, Marianne, Liu, Jilin, Subramony, S H, Swanson, Maurice S, Terada, Naohiro, Ashizawa, Tetsuo

“…Dystrophia myotonica type 1 (DM1) is an autosomal dominant multisystem disorder. The pathogenesis of central nervous system (CNS) involvement is poorly…”
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A pathologist’s perspective on induced pluripotent stem cells by Watanabe, Noriko, Santostefano, Katherine E, Yachnis, Anthony T, Terada, Naohiro

“…Induced pluripotent stem cell (iPSC) technology was originally developed in 2006. Essentially, it converts somatic cells into pluripotent stem cells by…”
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A practical guide to induced pluripotent stem cell research using patient samples by Santostefano, Katherine E, Hamazaki, Takashi, Biel, Nikolett M, Jin, Shouguang, Umezawa, Akihiro, Terada, Naohiro

“…Approximately 3 years ago, we assessed how patient induced pluripotent stem cell (iPSC) research could potentially impact human pathobiology studies in the…”
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ENTPD3 Marks Mature Stem Cell-Derived β-Cells Formed by Self-Aggregation In Vitro by Docherty, Fiona M, Riemondy, Kent A, Castro-Gutierrez, Roberto, Dwulet, JaeAnn M, Shilleh, Ali H, Hansen, Maria S, Williams, Shane P M, Armitage, Lucas H, Santostefano, Katherine E, Wallet, Mark A, Mathews, Clayton E, Triolo, Taylor M, Benninger, Richard K P, Russ, Holger A

“…Stem cell-derived β-like cells (sBC) carry the promise of providing an abundant source of insulin-producing cells for use in cell replacement therapy for…”
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Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies by Watanabe, Noriko, Kitada, Kohei, Santostefano, Katherine E, Yokoyama, Airi, Waldrop, Sara M, Heldermon, Coy D, Tachibana, Daisuke, Koyama, Masayasu, Meacham, Amy M, Pacak, Christina A, Terada, Naohiro

“…Since it is extremely difficult to establish an animal model for human chromosomal abnormalities, induced pluripotent stem cells (iPSCs) provide a powerful…”
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E2f6-mediated repression of the meiotic Stag3 and Smc1β genes during early embryonic development requires Ezh2 and not the de novo methyltransferase Dnmt3b by Leseva, Milena, Santostefano, Katherine E, Rosenbluth, Amy L, Hamazaki, Takashi, Terada, Naohiro

“…The E2f6 transcriptional repressor is an E2F-family member essential for the silencing of a group of meiosis-specific genes in somatic tissues. Although E2f6…”
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Disulfide bond disrupting agents activate the unfolded protein response in EGFR- and HER2-positive breast tumor cells by Ferreira, Renan B, Wang, Mengxiong, Law, Mary E, Davis, Bradley J, Bartley, Ashton N, Higgins, Paul J, Kilberg, Michael S, Santostefano, Katherine E, Terada, Naohiro, Heldermon, Coy D, Castellano, Ronald K, Law, Brian K

“…Many breast cancer deaths result from tumors acquiring resistance to available therapies. Thus, new therapeutic agents are needed for targeting drug-resistant…”
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Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator‐Like Effector Nuclease Proteins by Jia, Jingyue, Bai, Fang, Jin, Yongxin, Santostefano, Katherine E., Ha, Un-Hwan, Wu, Donghai, Wu, Weihui, Terada, Naohiro, Jin, Shouguang

“…The method of bacterial type III secretion system (T3SS)‐mediated transcription activator‐like effector nuclease (TALEN) protein injection and transfection of…”
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360. Genotype/Phenotype Correlation of Cellular Function and AAV-Mediated Gene Delivery to Treat Xeroderma Pigmentosum - Cockayne Syndrome (XP - CS) by Rizzo, Skylar, Donate, Amy L., Jones, Michael, Manko, Kelsey, Santostefano, Katherine E., Terada, Nao, Alkuraya, Fowzan S., Kang, Peter B., Pacak, Christina A.

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182. Characterization and AAV-Mediated Correction of Xeroderma Pigmentosum-Cockayne Syndrome (XP/CS) by Rizzo, Skylar A., Donate, Amy L., Gosiker, Bennett J., Santostefano, Katherine E., Terada, Naohiro, Alkuraya, Fowzan S., Kang, Peter B., Pacak, Christina A.

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