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2. Perspectives on Best Practices for Gene Therapy Programs

Author

Cheever, Thomas R, Berkley, Dale, Braun, Serge, Brown, Robert H, Byrne, Barry J, Chamberlain, Jeffrey S, Cwik, Valerie, Duan, Dongsheng, Federoff, Howard J, High, Katherine A, Kaspar, Brian K, Klinger, Katherine W, Larkindale, Jane, Lincecum, John, Mavilio, Fulvio, McDonald, Cheryl L, McLaughlin, James, McLeod, Bonnie Weiss, Mendell, Jerry R, Nuckolls, Glen, Stedman, Hansell H, Tagle, Danilo A, Vandenberghe, Luk H, Wang, Hao, Wernett, Pamela J, Wilson, James M, Porter, John D, and Gubitz, Amelie K

Subjects
Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, Neurosciences, Mental Health, Orphan Drug, Gene Therapy, Pediatric, Genetics, Clinical Trials as Topic, Genetic Therapy, Government Regulation, Humans, Intellectual Property, Neuromuscular Diseases
Abstract

With recent successes in gene therapy trials for hemophilia and retinal diseases, the promise and prospects for gene therapy are once again garnering significant attention. To build on this momentum, the National Institute of Neurological Disorders and Stroke and the Muscular Dystrophy Association jointly hosted a workshop in April 2014 on "Best Practices for Gene Therapy Programs," with a focus on neuromuscular disorders. Workshop participants included researchers from academia and industry as well as representatives from the regulatory, legal, and patient advocacy sectors to cover the gamut from preclinical optimization to intellectual property concerns and regulatory approval. The workshop focused on three key issues in the field: (1) establishing adequate scientific premise for clinical trials in gene therapy, (2) addressing regulatory process issues, and (3) intellectual property and commercialization issues as they relate to gene therapy. The outcomes from the discussions at this workshop are intended to provide guidance for researchers and funders in the gene therapy field.

Published
2015

3. Polycystin: In vitro Synthesis, in vivo Tissue Expression, and Subcellular Localization Identifies a Large Membrane-Associated Protein

Author

Ibraghimov-Beskrovnaya, Oxana, Dackowski, William R., Foggensteiner, Lukas, Coleman, Nick, Thiru, Sathia, Petry, Linda R., Burn, Timothy C., Connors, Timothy D., Van Raay, Terence, Bradley, John, Qian, Feng, Onuchic, Luiz F., Watnick, Terry J., Piontek, Klaus, Hakim, Raymond M., Landes, Gregory M., Germino, Gregory G., Sandford, Richard, and Klinger, Katherine W.

Published
1997

8. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

Author

Passini, Marco A., Bu, Jie, Roskelley, Eric M., Richards, Amy M., Sardi, S. Pablo, O'Riordan, Catherine R., Klinger, Katherine W., Shihabuddin, Lamya S., and Cheng, Seng H.

Subjects
Neurons -- Genetic aspects -- Physiological aspects -- Methods, Gene expression -- Physiological aspects -- Genetic aspects -- Methods, Gene therapy -- Methods -- Physiological aspects, Spinal muscular atrophy -- Genetic aspects -- Care and treatment, Central nervous system -- Genetic aspects -- Methods -- Physiological aspects, Health care industry
Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of survival motor neuron (SMN) due to mutations in the SMN1 gene. In this study, an adeno-associated virus (AAV) vector expressing human SMN (AAV8-hSMN) was injected at birth into the CNS of mice modeling SMA. Western blot analysis showed that these injections resulted in widespread expression of SMN throughout the spinal cord, and this translated into robust improvement in skeletal muscle physiology, including increased myofiber size and improved neuromuscular junction architecture. Treated mice also displayed substantial improvements on behavioral tests of muscle strength, coordination, and locomotion, indicating that the neuromuscular junction was functional. Treatment with AAV8-hSMN increased the median life span of mice with SMA-like disease to 50 days compared with 15 days for untreated controls. Moreover, injecting mice with SMA-like disease with a human SMN-expressing self-complementary AAV vector--a vector that leads to earlier onset of gene expression compared with standard AAV vectors--led to improved efficacy of gene therapy, including a substantial extension in median survival to 157 days. These data indicate that CNS-directed, AAV-mediated SMN augmentation is highly efficacious in addressing both neuronal and muscular pathologies in a severe mouse model of SMA., Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene and loss of encoded SMN protein (1). The [...]

Published
2010
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9. Single Cell Atlas of Human Putamen Reveals Disease Specific Changes in Synucleinopathies: Parkinson’s Disease and Multiple System Atrophy

Author

Pande, Rahul, primary, Huang, Yinyin, additional, Teeple, Erin, additional, Joshi, Pooja, additional, Flores-Morales, Amilcar, additional, Latta-Mahieu, Martine, additional, Sardi, S. Pablo, additional, Cedazo-Minguez, Angel, additional, Klinger, Katherine W., additional, Madden, Stephen L., additional, Rajpal, Deepak, additional, and Kumar, Dinesh, additional

Published
2021
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10. Single Nuclei Sequencing of Human Putamen Oligodendrocytes Reveals Altered Heterogeneity and Disease-Associated Changes in Parkinson’s Disease and Multiple System Atrophy

Author

Teeple, Erin, primary, Joshi, Pooja, additional, Pande, Rahul, additional, Huang, Yinyin, additional, Karambe, Akshat, additional, Latta-Mahieu, Martine, additional, Sardi, S. Pablo, additional, Cedazo-Minguez, Angel, additional, Klinger, Katherine W., additional, Flores-Morales, Amilcar, additional, Madden, Stephen L., additional, Rajpal, Deepak, additional, and Kumar, Dinesh, additional

Published
2021
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14. Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice

Author

Husson, Hervé, primary, Bukanov, Nikolay O, additional, Moreno, Sarah, additional, Smith, Mandy M, additional, Richards, Brenda, additional, Zhu, Cheng, additional, Picariello, Tyler, additional, Park, Hyejung, additional, Wang, Bing, additional, Natoli, Thomas A, additional, Smith, Laurie A, additional, Zanotti, Stefano, additional, Russo, Ryan J, additional, Madden, Stephen L, additional, Klinger, Katherine W, additional, Modur, Vijay, additional, and Ibraghimov-Beskrovnaya, Oxana, additional

Published
2020
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15. Network Analysis and Human Single Cell Brain Transcriptomics Reveal Novel Aspects of Alpha-Synuclein (SNCA) Biology

Author

Teeple, Erin, primary, Jindal, Khushboo, additional, Kiragasi, Beril, additional, Annaldasula, Siddharth, additional, Byrne, Ann, additional, Chai, Lilly, additional, Sadeghi, Mahdiar, additional, Kayatekin, Can, additional, Shankara, Srinivas, additional, Klinger, Katherine W., additional, Sardi, S. Pablo, additional, Madden, Stephen L., additional, and Kumar, Dinesh, additional

Published
2020
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16. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Author

Glascock, Jacqueline, primary, Sampson, Jacinda, additional, Connolly, Anne M., additional, Darras, Basil T., additional, Day, John W., additional, Finkel, Richard, additional, Howell, R. Rodney, additional, Klinger, Katherine W., additional, Kuntz, Nancy, additional, Prior, Thomas, additional, Shieh, Perry B., additional, Crawford, Thomas O., additional, Kerr, Douglas, additional, and Jarecki, Jill, additional

Published
2020
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19. Identification of Genes Potentially Involved in the Acquisition of Androgen-Independent and Metastatic Tumor Growth in an Autochthonous Genetically Engineered Mouse Prostate Cancer Model

Author

Morgenbesser, Sharon D., McLaren, Rajashree P., Richards, Brenda, Zhang, Mindy, Akmaev, Viatcheslav R., Winter, Scott F., Mineva, Nora D., Kaplan-Lefko, Paula J., Foster, Barbara A., Cook, Brian P., Dufault, Michael R., Cao, Xiahong, Wang, Clarence J., Teicher, Beverly A., Klinger, Katherine W., Greenberg, Norman M., and Madden, Stephen L.

Published
2007
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23. Expression and characterization of the cystic fibrosis transmembrane conductance regulator

Author

Gregory, Richard J., Cheng, Seng H., Rich, Devra P., Marshall, John, Supreme Court justice, Paul, Sucharita, Hehir, Kathleen, Ostedgaard, Lynda, Klinger, Katherine W., Welsh, Michael J., and Smith, Alan E.

Subjects
Proteins -- Analysis, Cystic fibrosis -- Physiological aspects, Recombinant DNA -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Cystic fibrosis (CF) is the most common deadly inheritable disease among Caucasians. CF is characterized by defective salt transport in organs, particularly the lungs, sweat glands, intestines, and pancreas. The major cellular defect in CF patients involves the function and regulation of chloride channels. These channels, which are proteins embedded in the membranes of epithelial cells (which form the exterior layers of most body surfaces), allow the movement of chloride ions from the cell interior to the exterior. In normal epithelial cells, the chloride channel opens when it is phosphorylated (modified by the addition of phosphate) by a kinase (a type of enzyme). In CF cells, chloride channels are present but they cannot be activated by the kinase, and thus cannot secrete chloride ions or fluid. A major research finding in 1989 was the isolation of a gene which had a mutation in 70 percent of patients with CF. The gene codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), but the actual function of the protein has not yet been determined. This article describes work done with the gene to allow synthesis of the protein from the gene information by means of laboratory techniques. The results show that the protein is a membrane-associated protein to which sugar molecules attach during synthesis, which is common for membrane-bound proteins. In addition, this synthesized, or recombinant, CFTR can be phosphorylated by the kinase, which regulates chloride channels (as well as other proteins). Antibodies that recognize the native protein also recognize recombinant CFTR. These results indicate that recombinant CFTR is structurally and functionally equivalent to CFTR, and this will allow CFTR function to be studied with the aim of improving diagnosis and therapy of cystic fibrosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

24. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Author

Rich, Devra P., Anderson, Matthew P., Gregory, Richard J., Cheng, Seng H., Paul, Sucharita, Jefferson, Douglas M., McCann, John D., Klinger, Katherine W., Smith, Alan E., and Welsh, Michael J.

Subjects
Cystic fibrosis -- Physiological aspects, Chloride channels -- Physiological aspects, Cystic fibrosis -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Cystic fibrosis (CF) is the most common deadly inheritable disease affecting Caucasians. CF is characterized by defective salt transport in organs, particularly the lungs, sweat glands, intestines, and pancreas. The major cellular defect in CF patients involves the function and regulation of chloride channels. These channels, which are proteins embedded in the membranes of epithelial cells (which form the exterior layers of most body surfaces), allow the movement of chloride ions from the cell interior to the exterior. In normal epithelial cells, the chloride channel opens when it is phosphorylated (modified by the addition of phosphate) by a kinase (a type of enzyme). In CF cells, chloride channels are present but they cannot be activated by the kinase, and thus cannot secrete chloride ions or fluid. A major research finding in 1989 was the isolation of a gene which contained a mutation in 70 percent of patients with CF. The gene codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), and work is ongoing to determine the actual function of this protein. The results described in this article show that when CFTR is added to CF cells, which have the mutated CFTR and are thereby defective in chloride transport, the defect in chloride secretion is corrected. This demonstrates a causal relationship between CFTR mutations and the actual dysfunctions associated with CF. The results also suggest that CFTR is either a chloride channel or that it regulates chloride channels, but it cannot be determined which of these two possibilities is true. The study suggests that treatment of CF by correcting the underlying defect may some day be feasible. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

26. Fetal cells in maternal blood: determination of purity and yield by quantitative polymerase chain reaction

Author

Bianchi, Diana W., Shuber, Anthony P., DeMaria, Mary Ann, Fougner, Arthur C., and Klinger, Katherine W.

Subjects
Fetal tissues -- Analysis, Prenatal diagnosis -- Methods, Polymerase chain reaction -- Usage, Aneuploidy -- Diagnosis, Health
Abstract

The polymerase chain reaction (PCR) provides a means of comparing the results of various methods of isolating fetal cells from maternal blood. Fetal cells are normally found in maternal blood, and they can be used for prenatal diagnosis if they can be collected in sufficient quantity and sufficiently isolated from maternal cells. Researchers subjected venous blood samples of pregnant women known to be carrying boys to a cell separation technique and then performed PCR on the resultant sample both for a sequence on the Y chromosome and chromosome 7. The sequences multiply in proportion to their concentration in the original solution. Therefore, the yield, meaning the number of fetal cells in the sample, and the purity, meaning the percent relative to maternal cells, could readily be determined.

Published
1994

30. PCR Quantitation of Fetal Cells in Maternal Blood in Normal and Aneuploid Pregnancies**Presented in part at the annual meeting of the Society for Pediatric Research, Washington, DC, May 7, 1996, and at the 46th meeting of the American Society of Human Genetics, San Francisco, October 31, 1996

Author

Bianchi, Diana W., Williams, John M., Sullivan, Lisa M., Hanson, Frederick W., Klinger, Katherine W., and Shuber, Anthony P.

Subjects
embryonic structures, Genetics, Genetics(clinical)
Abstract

SummaryFetal cells in maternal blood are a noninvasive source of fetal genetic material for prenatal diagnosis. We determined the number of fetal-cell DNA equivalents present in maternal whole-blood samples to deduce whether this number is affected by fetal karyotype. Peripheral blood samples were obtained from 199 women carrying chro-mosomally normal fetuses and from 31 women with male aneuploid fetuses. Male fetal-cell DNA-equivalent quantitation was determined by PCR amplification of a Y chromosome-specific sequence and was compared with PCR product amplified from known concentrations of male DNA run simultaneously. The mean number of male fetal-cell DNA equivalents detected in 16-ml blood samples from 90 women bearing a 46, XY fetus was 19 (range 0–91). The mean number of male fetal-cell DNA equivalents detected in 109 women bearing a 46, XX fetus was 2 (range 0-24). The mean number of male fetal-cell DNA equivalents detected when the fetus was male compared with when the fetus was female was highly significant (P = .0001). More fetal cells were detected in maternal blood when the fetus was aneuploid. The mean number of male fetal-cell DNA equivalents detected when the fetal karyotype was 47, XY, +21 was 110 (range 0.1–650), which was significantly higher than the number of male fetal-cell DNA equivalents detected in 46, XY fetuses (P = .0001). Feto-maternal transfusion of nucleated cells appears to be influenced by fetal karyotype. The sixfold elevation of fetal cells observed in maternal blood when the fetus had trisomy 21 indicates that noninvasive cytogenetic diagnosis of trisomy 21 should be feasible.

Published
1997
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32. Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model

Author

Morgenbesser, Sharon D., primary, McLaren, Rajashree P., additional, Richards, Brenda, additional, Zhang, Mindy, additional, Akmaev, Viatcheslav R., additional, Winter, Scott F., additional, Mineva, Nora D., additional, Kaplan-Lefko, Paula J., additional, Foster, Barbara A., additional, Cook, Brian P., additional, Dufault, Michael R., additional, Cao, Xiahong, additional, Wang, Clarence J., additional, Teicher, Beverly A., additional, Klinger, Katherine W., additional, Greenberg, Norman M., additional, and Madden, Stephen L., additional

Published
2006
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33. Alterations in Vascular Gene Expression in Invasive Breast Carcinoma

Author

Parker, Belinda S., primary, Argani, Pedram, additional, Cook, Brian P., additional, Liangfeng, Han, additional, Chartrand, Scott D., additional, Zhang, Mindy, additional, Saha, Saurabh, additional, Bardelli, Alberto, additional, Jiang, Yide, additional, St. Martin, Thia B., additional, Nacht, Mariana, additional, Teicher, Beverly A., additional, Klinger, Katherine W., additional, Sukumar, Saraswati, additional, and Madden, Stephen L., additional

Published
2004
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34. New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies

Author

Husson, Hervé, primary, Manavalan, Partha, additional, Akmaev, Viatcheslav R., additional, Russo, Ryan J., additional, Cook, Brian, additional, Richards, Brenda, additional, Barberio, Dana, additional, Liu, Dongyu, additional, Cao, Xiaohong, additional, Landes, Gregory M., additional, Wang, Clarence J., additional, Roberts, Bruce L., additional, Klinger, Katherine W., additional, Grubman, Shelley A., additional, Jefferson, Douglas M., additional, and Ibraghimov-Beskrovnaya, Oxana, additional

Published
2004
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35. Vascular Gene Expression in Nonneoplastic and Malignant Brain

Author

Madden, Stephen L., primary, Cook, Brian P., additional, Nacht, Mariana, additional, Weber, William D., additional, Callahan, Michelle R., additional, Jiang, Yide, additional, Dufault, Michael R., additional, Zhang, Xiaoming, additional, Zhang, Wen, additional, Walter-Yohrling, Jennifer, additional, Rouleau, Cecile, additional, Akmaev, Viatcheslav R., additional, Wang, Clarence J., additional, Cao, Xiaohong, additional, St. Martin, Thia B., additional, Roberts, Bruce L., additional, Teicher, Beverly A., additional, Klinger, Katherine W., additional, Stan, Radu-Virgil, additional, Lucey, Brenden, additional, Carson-Walter, Eleanor B., additional, Laterra, John, additional, and Walter, Kevin A., additional

Published
2004
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36. Interlaboratory Comparison of Fetal Male DNA Detection from Common Maternal Plasma Samples by Real-Time PCR

Author

Johnson, Kirby L, primary, Dukes, Kimberly A, primary, Vidaver, John, primary, LeShane, Erik S, primary, Ramirez, Idania, primary, Weber, William D, primary, Bischoff, Farideh Z, primary, Hahn, Sinuhe, primary, Sharma, Arun, primary, Dang, Dianne X, primary, Hire, Lisa M, primary, Bianchi, Diana W, primary, Simpson, Joe Leigh, primary, Holzgreve, Wolfgang, primary, Elias, Sherman, primary, and Klinger, Katherine W, primary

Published
2004
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39. The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization

Author

Sood, Raman, primary, Makalowska, Izabela, additional, Carpten, John D., additional, Robbins, Christiane M., additional, Stephan, Dietrich A., additional, Connors, Timothy D., additional, Morgenbesser, Sharon D., additional, Su, Kui, additional, Pinkett, Heather W., additional, Graham, Christopher L., additional, Quesenberry, Matthew I., additional, Baxevanis, Andreas D., additional, Klinger, Katherine W., additional, Trent, Jeffrey M., additional, and Bonner, Tom I., additional

Published
2000
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40. Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference

Author

Haddow, James E., primary, Bradley, Linda A., additional, Palomaki, Glenn E., additional, Doherty, Richard A., additional, Bernhardt, Barbara A., additional, Brock, David J.H., additional, Cheuvront, Brian, additional, Cunningham, George C., additional, Donnenfeld, Alan E., additional, Erickson, Jeryl L., additional, Erlich, Henry A., additional, Ferrie, Richard M., additional, FitzSimmons, Stacey C., additional, Greene, Michael F., additional, Grody, Wayne W., additional, Haddow, Paula K., additional, Harris, Hilary, additional, Holmes, Lewis B., additional, Howell, R. Rodney, additional, Katz, Michael, additional, Klinger, Katherine W., additional, Kloza, Edward M., additional, LeFevre, Michael L., additional, Little, Stephen, additional, Loeben, Greg, additional, McGovern, Margaret, additional, Pyeritz, Reed E., additional, Rowley, Peter T., additional, Saiki, Randall K., additional, Short, M. Priscilla, additional, Tabone, John, additional, Wald, Nicholas J., additional, Wilker, Nachama L., additional, and Witt, David R., additional

Published
1999
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44. DEVELOPMENT OF A MODEL SYSTEM TO COMPARE CELL SEPARATION METHODS FOR THE ISOLATION OF FETAL CELLS FROM MATERNAL BLOOD

Author

BIANCHI, DIANA W., primary, KLINGER, KATHERINE W., additional, VADNAIS, THERESA J., additional, DEMARIA, MARY ANN, additional, SHUBER, ANTHONY P., additional, SKOLETSKY, JOEL, additional, MIDURA, PAT, additional, DIRISO, MATTHEW, additional, PELLETIER, CHRISTINE, additional, GENOVA, MICHELLE, additional, ERIKSON, MARLENA S., additional, and WILLIAMS, JOHN M., additional

Published
1996
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