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Your search keyword '"Rasko, John E.J."' showing total 108 results
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108 results on '"Rasko, John E.J."'

11. Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant

Author

George, Lindsey A., Sullivan, Spencer K., Giermasz, Adam, Rasko, John E.J., Samelson-Jones, Benjamin J., Ducore, Jonathan, Cuker, Adam, Sullivan, Lisa M., Majumdar, Suvankar, Teitel, Jerome, McGuinn, Catherine E., Ragni, Margaret V., Luk, Alvin Y., Hui, Daniel, Wright, Fraser J., Chen, Yifeng, Liu, Yun, Wachtel, Katie, Winters, Angela, Tiefenbacher, Stefan, Arruda, Valder R., van der Loo, Johannes C.M., Zelenaia, Olga, Takefman, Daniel, Carr, Marcus E., Couto, Linda B., Anguela, Xavier M., and High, Katherine A.

Published
2017
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12. Long Term Outcomes of 63 Patients with Transfusion-Dependent β-Thalassemia (TDT) Followed up to 7 Years Post-Treatment with betibeglogene autotemcel (beti-cel) Gene Therapy and Exploratory Analysis of Predictors of Successful Treatment Outcomes in Phase 3 Trials

Author

Walters, Mark C., Kwiatkowski, Janet L., Porter, John B., Schneiderman, Jennifer, Hongeng, Suradej, Kulozik, Andreas E., Cavazzana, Marina, Sauer, Martin G., Thrasher, Adrian J., Thuret, Isabelle, Lal, Ashutosh, Rasko, John E.J., Yannaki, Evangelia, Ali, Shamshad, Shestopalov, Ilya, Fincker, Maeva, Colvin, Richard A., Whitney, Dustin, Locatelli, Franco, and Thompson, Alexis A.

Published
2022
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14. Long-Term Durable FVIII Expression with Improvements in Bleeding Rates Following AAV-Mediated FVIII Gene Transfer for Hemophilia A: Multiyear Follow-up on the Phase I/II Trial of SPK-8011

Author

Croteau, Stacy E., Eyster, M. Elaine, Tran, Huyen, Ragni, Margaret V., Samelson-Jones, Benjamin J., George, Lindsey, Sullivan, Spencer, Rasko, John E.J., Moormeier, Jill, Angchaisuksiri, Pantep, Teitel, Jerome, Kenet, Gili, Wynn, Tung, Jaworski, Kristen, Macdougall, Amy, Jaeger, Savina, Trivedi, Trupti, Mingozzi, Federico, Chang, Tiffany, and Levy, Gallia

Published
2022
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16. Genome-wide characterization of the routes to pluripotency

Author

Hussein, Samer M.I., Puri, Mira C., Tonge, Peter D., Benevento, Marco, Corso, Andrew J., Clancy, Jennifer L., Mosbergen, Rowland, Li, Mira, Lee, Dong-Sung, Cloonan, Nicole, Wood, David L.A., Munoz, Javier, Middleton, Robert, Korn, Othmar, Patel, Hardip R., White, Carl A., Shin, Jong-Yeon, Gauthier, Maely E., Cao, Kim-Anh Le, Mar, Jessica C., Shakiba, Nika, Ritchie, William, Rasko, John E.J., Grimmond, Sean M., Zandstra, Peter W., Wells, Christine A., Preiss, Thomas, Seo, Jeong-Sun, Heck, Albert J.R., Rogers, Ian M., and Nagy, Andras

Subjects
Somatic cells -- Physiological aspects, Stem cell research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Somatic cell reprogramming to a pluripotent state continues to challenge many of our assumptions about cellular specification, and despite major efforts, we lack a complete molecular characterization of the reprograming process. To address this gap in knowledge, we generated extensive transcriptomic, epigenomic and proteomic data sets describing the reprogramming routes leading from mouse embryonic fibroblasts to induced pluripotency. Through integrative analysis, we reveal that cells transition through distinct gene expression and epigenetic signatures and bifurcate towards reprogramming transgene-dependent and -independent stable pluripotent states. Early transcriptional events, driven by high levels of reprogramming transcription factor expression, are associated with widespread loss of histone H3 lysine 27 (H3K27me3) trimethylation, representing a general opening of the chromatin state. Maintenance of high transgene levels leads to re-acquisition of H3K27me3 and a stable pluripotent state that is alternative to the embryonic stem cell (ESC)-like fate. Lowering transgene levels at an intermediate phase, however, guides the process to the acquisition of ESC-like chromatin and DNA methylation signature. Our data provide a comprehensive molecular description of the reprogramming routes and is accessible through the Project Grandiose portal at http://www.stemformatics.org., Forced expression of four transcription factors--Oct4 (also called Pou5f1), Sox2, Klf4 and Myc (OSKM) (1)--induces molecular changes in somatic cells, which lead to pluripotency. The exogenous expression of these transcription [...]

Published
2014
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17. Sustained Efficacy and Safety in Adult and Pediatric Patients with Transfusion-Dependent β-Thalassemia up to 9 Years Post Treatment with Betibeglogene Autotemcel (Beti-cel)

Author

Walters, Mark C., Thompson, Alexis A., Olson, Timothy S., Porter, John B., Schneiderman, Jennifer, Hongeng, Suradej, Kulozik, Andreas E., Cavazzana, Marina, Sauer, Martin G., Thrasher, Adrian J., Thuret, Isabelle, Lal, Ashutosh, Rasko, John E.J., Yannaki, Evangelia, Ali, Shamshad, Tao, Ge, Thakar, Himal L., Deora, Ami, Gruppioni, Katiana, Colvin, Richard A., Locatelli, Franco, and Kwiatkowski, Janet L.

Published
2024
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18. Cell therapy medical tourism: Time for action

Author

Gunter, Kurt C., Caplan, Arthur L., Mason, Chris, Salzman, Rachel, Janssen, William E., Nichols, Karen, Bouzas, Luis F., Lanza, Francesco, Levine, Bruce L., Rasko, John E.J., Shimosaka, Akihiro, and Horwitz, Edwin

Published
2010
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19. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria

Author

Bailey, Charles G., Ryan, Renae M., Thoeng, Annora D., Ng, Cynthia, King, Kara, Vanslambrouck, Jessica M., Auray-Blais, Christiane, Vandenberg, Robert J., Broer, Stefan, and Rasko, John E.J.

Subjects
Gene mutations -- Health aspects -- Research -- Genetic aspects -- Physiological aspects, Proteinuria -- Risk factors -- Genetic aspects -- Diagnosis -- Research, Glutamate -- Genetic aspects -- Physiological aspects -- Research -- Health aspects, Health care industry
Abstract

Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents. Within the brain, SLC1A1 serves as the predominant neuronal glutamate transporter and buffers the synaptic release of the excitatory neurotransmitter glutamate within the interneuronal synaptic cleft. Recent studies have also revealed that polymorphisms in SLC1A1 are associated with obsessive-compulsive disorder (OCD) in early-onset patient cohorts. Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation. These mutations of conserved residues impeded or abrogated glutamate and cysteine transport by SLC1A1 and led to near-absent surface expression in a canine kidney cell line. These findings provide evidence that SLC1A1 is the major renal transporter of glutamate and aspartate in humans and implicate SLC1A1 in the pathogenesis of some neurological disorders., Introduction Dicarboxylic aminoaciduria (DA; OMIM 222730) involves a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the [...]

Published
2011
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20. Inositol polyphosphate 4-phosphatase II regulates PI3K/Akt signaling and is lost in human basal-like breast cancers

Author

Fedele, Clare G., Ooms, Lisa M., Ho, Miriel, Vieusseux, Jessica, OToole, Sandra A., Millar, Ewan K., Lopez-Knowles, Elena, Sriratana, Absorn, Gurung, Rajendra, Baglietto, Laura, Giles, Graham G., Bailey, Charles G., Rasko, John E.J., Shields, Benjamin J., Price, John T., Majerus, Philip W., Sutherland, Robert L., Tiganis, Tony, McLean, Catriona A., and Mitchell, Christina A.

Subjects
Breast cancer -- Development and progression, Inositol phosphates -- Chemical properties, Inositol phosphates -- Health aspects, Genetic regulation -- Research, Cellular signal transduction -- Genetic aspects, Science and technology
Abstract

Inositol polyphosphate 4-phosphatase-II (INPP4B) is a regulator of the phosphoinositide 3-kinase (PI3K) signaling pathway and is implicated as a tumor suppressor in epithelial carcinomas. INPP4B loss of heterozygosity (LOH) is detected in some human breast cancers; however, the expression of INPP4B protein in breast cancer subtypes and the normal breast is unknown. We report here that INPP4B is expressed in nonproliferative estrogen receptor (ER)-positive cells in the normal breast, and in ER-positive, but not negative, breast cancer cell lines. INPP4B knockdown in ER-positive breast cancer cells increased Akt activation, cell proliferation, and xenograft tumor growth. Conversely, reconstitution of INPP4B expression in ER-negative, INPP4B-null human breast cancer cells reduced Akt activation and anchorage-independent growth. INPP4B protein expression was frequently lost in primary human breast carcinomas, associated with high clinical grade and tumor size and loss of hormone receptors and was lost most commonly in aggressive basal-like breast carcinomas. INPP4B protein loss was also frequently observed in phosphatase and tensin homolog (PTEN)-null tumors. These studies provide evidence that INPP4B functions as a tumor suppressor by negatively regulating normal and malignant mammary epithelial cell proliferation through regulation of the PI3K/Akt signaling pathway, and that loss of INPP4B protein is a marker of aggressive basal-like breast carcinomas. phosphatidylinositol 3,4-bisphosphate doi/ 10.1073/pnas.1015245107

Published
2010

22. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Author

Broer, Stefan, Bailey, Charles G., Kowalczuk, Sonja, Ng, Cynthia, Vanslambrouck, Jessica M., Rodgers, Helen, Auray-Blais, Christiane, Cavanaugh, Juleen A., Broer, Angelika, and Rasko, John E.J.

Subjects
Gene mutations -- Health aspects, Metabolism, Inborn errors of -- Causes of, Metabolism, Inborn errors of -- Genetic aspects, Metabolism, Inborn errors of -- Diagnosis, Metabolism, Inborn errors of -- Research, Carrier proteins -- Health aspects, Carrier proteins -- Genetic aspects, Carrier proteins -- Research
Abstract

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria has been attributed to heterozygosity of a putative defective glycine, proline, and hydroxyproline transporter, confirming the underlying genetic defect(s) has been difficult. Here we applied a candidate gene sequencing approach in 7 families first identified through newborn IG screening programs. Both inheritance and functional studies identified the gene encoding the proton amino acid transporter SLC36A2 (PAT2) as the major gene responsible for IG in these families, and its inheritance was consistent with a classical semidominant pattern in which 2 inherited nonfunctional alleles conferred the IG phenotype, while 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype when combined with mutations in the gene encoding the imino acid transporter SLC6A20 (IMINO). Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 ([B.sup.0]AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes. In summary, although recognized as apparently simple Mendelian disorders, IG and HG exhibit complex molecular explanations depending on a major gene and accompanying modifier genes., Introduction Many metabolic diseases, such as Hartnup disorder (1) and phenylketonuria (2), have been assumed to fit a classical Mendelian autosomal model of inheritance. In classical Mendelian diseases such as [...]

Published
2008

24. 385 - Long-term Outcomes of 63 Patients with Transfusion-Dependent β-Thalassemia (TDT) Followed-up to 7 Years after Treatment with betibeglogene autotemcel (beti-cel) Gene Therapy (GT) and Factors Impacting Neutrophil and Platelet Engraftment

Author

Olson, Timothy S., Walters, Mark C., Kwiatkowski, Janet L., Porter, John B., Schneiderman, Jennifer, Hongeng, Suradej, Kulozik, Andreas E., Cavazzana, Marina, Sauer, Martin G., Thrasher, Adrian J., Thuret, Isabelle, Lal, Ashutosh, Rasko, John E.J., Yannaki, Evangelia, Ali, Shamshad, Colvin, Richard A., Locatelli, Franco, and Thompson, Alexis A.

Published
2023
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32. Establishing a robust chimeric antigen receptor T-cell therapy program in Australia: the Royal Prince Alfred Hospital experience.

Author

Velickovic, Zlatibor M. and Rasko, John E.J.

Subjects
*CHIMERIC antigen receptors, *HEALTH facilities, *T cells, *PUBLIC hospitals, *ANTIGEN receptors, *COVID-19, *TELERADIOLOGY, *CRYOPRESERVATION of cells
Abstract

>himeric antigen receptor (CAR) T-cell therapy is a novel approved cancer treatment that has shown remarkable efficacy in the treatment of patients with relapsed leukemia and lymphoma. Implementation of CAR T-cell therapy in a hospital setting requires careful and detailed planning because of the complexities in delivering this specialist service. A multi-disciplinary approach with dedicated funding is required to meet clinical, scientific, logistic and regulatory requirements. Tisagenlecleucel was the first approved CAR T-cell therapy in Australia. The treatment has been made available to Australian patients in specialist public hospitals through federal and state funding. Royal Prince Alfred Hospital (RPAH) is one of Australia's oldest tertiary referral public health care institutions and was approved for the provision of CAR T-cell therapy service in 2019. A multi-disciplinary clinical program has been established for the collection and cryopreservation of donor cells shipped for manufacturing as well as for the receipt, storage and administration of CAR T-cell therapy and patient management. The program encompasses a Therapeutic Goods Administration-accredited apheresis unit and a state-of-the-art facility for cell processing, cryopreservation and storage. The program's clinical expertise extends to hematology, oncology, intensive care, pharmacy, neurology and radiology services with direct experience in managing patients receiving CAR T-cell therapies. The introduction of CAR T-cell therapies at RPAH was a complex undertaking facilitated by the existing infrastructure and clinical expertise. [ABSTRACT FROM AUTHOR]

Published
2022
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40. 28 - Efficacy and Safety of Betibeglogene Autotemcel (beti-cel) Gene Therapy in 63 Patients with Transfusion-Dependent β-Thalassemia (TDT): 7-Year Post-Infusion Follow-up of Phase 1/2 and Phase 3 Studies

Author

Schneiderman, Jennifer, Locatelli, Franco, Thompson, Alexis A., Kwiatkowski, Janet L., Porter, John B., Hongeng, Suradej, Kulozik, Andreas E., Cavazzana, Marina, Sauer, Martin G., Thrasher, Adrian J., Thuret, Isabelle, Lal, Ashutosh, Rasko, John E.J., Yannaki, Evangelia, Schmidt, Manfred, Du, Lin, Colvin, Richard A., and Walters, Mark C.

Published
2022
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48. 62 - Safety Following Autologous Transplantation with Lentiglobin Gene Therapy for Transfusion-Dependent β-Thalassemia (TDT) in the Northstar Hgb-204 Study

Author

Walters, Mark C., Kwiatkowski, Janet L., Rasko, John E.J., Hongeng, Suradej, Schiller, Gary J., Anurathapan, Usanarat, Cavazzana, Marina, Ho, Phoebe Joy, von Kalle, Christof, Kletzel, Morris, Leboulch, Philippe, Vichinsky, Elliot P., Deary, Briana, Asmal, Mohammed, and Thompson, Alexis A.

Published
2018
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49. Corrigendum: genome-wide characterization of the routes to pluripotency

Author

Hussein, Samer M.I., Puri, Mira C., Tonge, Peter D., Benevento, Marco, Corso, Andrew J., Clancy, Jennifer L., Mosbergen, Rowland, Li, Mira, Lee, Dong-Sung, Cloonan, Nicole, Wood, David L.A., Munoz, Javier, Middleton, Robert, Korn, Othmar, Patel, Hardip R., White, Carl A., Shin, Jong-Yeon, Gauthier, Maely E., Cao, Kim-Anh Le, Kim, Jong-Il, Mar, Jessica C., Shakiba, Nika, Ritchie, William, Rasko, John E.J., Grimmond, Sean M., Zandstra, Peter W., Wells, Christine A., Preiss, Thomas, Seo, Jeong-Sun, Heck, Albert J.R., Rogers, Ian M., and Nagy, Andras

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Nature 516, 198-206 (2014); doi:10.1038/nature14046 In this Article, the address listed as Nicole Cloonan's present address (QIMR Berghofer Medical Research Institute, Queensland 4006, Australia) should have been listed as her [...]

Published
2015
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