324 results on '"Jones, Kristi"'
Search Results
2. RNA variant assessment using transactivation and transdifferentiation
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Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C., Robinson, Olivia, Gardner, Alison, Ritchie, Tarin, Kroes, Thessa, Scheffer, Ingrid E., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., and Cooper, Sandra T.
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- 2024
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3. Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
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Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K, Mayhew, Anna G, Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha‐Goebel, Diana X, Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Consortium, The Jain COS, Bourke, John, and Straub, Volker
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Biomedical and Clinical Sciences ,Cardiovascular Medicine and Haematology ,Clinical Sciences ,Cardiovascular ,Heart Disease ,Lung ,Clinical Research ,Electrocardiography ,Female ,Humans ,Longitudinal Studies ,Male ,Muscular Dystrophies ,Limb-Girdle ,Phenotype ,Jain COS Consortium ,Miyoshi myopathy ,cardiac ,dysferlin ,limb girdle muscular dystrophy R2 ,respiratory ,Medical and Health Sciences ,Neurology & Neurosurgery ,Biological sciences ,Biomedical and clinical sciences - Abstract
Introduction/aimsThere is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.MethodsAs part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).ResultsMean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.DiscussionThese results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.
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- 2022
4. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders
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Ji, Charli, Kariyawasam, Didu S., Sampaio, Hugo, Lorentzos, Michelle, Jones, Kristi J., and Farrar, Michelle A.
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- 2024
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5. Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
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Kariyawasam, Didu, D’Silva, Arlene, Mowat, David, Russell, Jacqui, Sampaio, Hugo, Jones, Kristi, Taylor, Peter, and Farrar, Michelle
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- 2022
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6. Heat abatement during the pre-weaning period: effects on growth, feed efficiency, metabolites, and insulin of male Holstein calves
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Montevecchio, Ana B., Frota, Wilson, Merenda, Victoria R., Jones, Kristi L., Martin, III, Joseph G., Ballou, Michael A., and Chebel, Ricardo C.
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- 2022
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7. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern
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Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M., Carlier, Pierre G., Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, and Díaz-Manera, Jordi
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- 2023
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8. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
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Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., and Santibanez-Koref, Mauro
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- 2023
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9. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
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Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K., Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G., Mori-Yoshimura, Madoka, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Diaz-Manera, Jordi, and Straub, Volker
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- 2023
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10. Pangenomic analysis of Helcococcus ovis reveals widespread tetracycline resistance and a novel bacterial species, Helcococcus bovis.
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Cunha, Federico, primary, Zhai, Yuting, additional, Casaro, Segundo, additional, Jones, Kristi L., additional, Hernandez, Modesto, additional, Bisinotto, Rafael S., additional, Kariyawasam, Subhashinie, additional, Brown, Mary B., additional, Phillips, Ashley, additional, Jeong, Kwangcheol C., additional, and Galvão, Klibs N., additional
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- 2024
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11. Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine
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Ma, Alan, primary, Newing, Timothy P, additional, O'Shea, Rosie, additional, Gokoolparsadh, Akira, additional, Murdoch, Emma, additional, Hayward, Janette, additional, Shannon, Gillian, additional, Kevin, Lucy, additional, Bennetts, Bruce, additional, Ho, Gladys, additional, Smith, Janine, additional, Shah, Margit, additional, Jones, Kristi J, additional, Josephi‐Taylor, Sarah, additional, Sandaradura, Sarah A, additional, Adès, Lesley, additional, Jamieson, Robyn, additional, and Rankin, Nicole M, additional
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- 2024
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12. Optimization and Testing of a Commercial Viability PCR Protocol to Detect Escherichia coli in Whole Blood
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Jones, Kristi L., primary, Cunha, Federico, additional, Casaro, Segundo, additional, and Galvão, Klibs N., additional
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- 2024
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13. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
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Marchant, Rhett G., primary, Bryen, Samantha J., additional, Bahlo, Melanie, additional, Cairns, Anita, additional, Chao, Katherine R., additional, Corbett, Alastair, additional, Davis, Mark R., additional, Ganesh, Vijay S., additional, Ghaoui, Roula, additional, Jones, Kristi J., additional, Kornberg, Andrew J., additional, Lek, Monkol, additional, Liang, Christina, additional, MacArthur, Daniel G., additional, Oates, Emily C., additional, O'Donnell‐Luria, Anne, additional, O'Grady, Gina L., additional, Osei‐Owusu, Ikeoluwa A., additional, Rafehi, Haloom, additional, Reddel, Stephen W., additional, Roxburgh, Richard H., additional, Ryan, Monique M., additional, Sandaradura, Sarah A., additional, Scott, Liam W., additional, Valkanas, Elise, additional, Weisburd, Ben, additional, Young, Helen, additional, Evesson, Frances J., additional, Waddell, Leigh B., additional, and Cooper, Sandra T., additional
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- 2024
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14. A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
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Wong, Wui-Kwan, Bryen, Samantha J, Bournazos, Adam, Yasa, Joe, Lemckert, Frances, Bommireddipall, Shobhana, Waddell, Leigh B, Menezes, Manoj P, Webster, Richard, Davis, Mark, Liang, Christina, Cooper, Sandra T, and Jones, Kristi J
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- 2022
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15. Formative Assessment of Computational Thinking: Cognitive and Metacognitive Processes
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Bonner, Sarah, Chen, Peggy, Jones, Kristi, and Milonovich, Brandon
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We describe the use of think alouds to examine substantive processes involved in performance on a formative assessment of computational thinking (CT) designed to support self-regulated learning (SRL). Our task design model included three phases of work on a computational thinking problem: forethought, performance, and reflection. The cognitive processes of seven students who reported their thinking during all three phases were analyzed. Ratings of artifacts of code indicated the computational thinking problem was moderately difficult to solve (M = 15, SD = 5) on a scale of 0 to 21 points. Profiles were created to illustrate length and sequence of different types of cognitive processes during the think-aloud. Results provide construct validity evidence for the tasks as formative assessments of CT, elucidate the way learners at different levels of skill use SRL, shed light on the nature of computational thinking, and point out areas for improvement in assessment design.
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- 2021
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16. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
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Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine M
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Biological Sciences ,Genetics ,Pediatric ,Rare Diseases ,Neurofibromatosis ,Clinical Research ,Neurosciences ,Brain Disorders ,Adolescent ,Adult ,Child ,Child ,Preschool ,Female ,Genetic Association Studies ,Genetic Predisposition to Disease ,Heterozygote ,Humans ,Infant ,Learning Disabilities ,Male ,Mutation ,Missense ,Neurofibroma ,Plexiform ,Neurofibromatosis 1 ,Neurofibromin 1 ,Sequence Deletion ,Young Adult ,NF1 ,p.Met992del ,genotype-phenotype correlation ,neurofibroma ,learning difficulties ,genotype–phenotype correlation ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors.MethodsA total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study.ResultsNone of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_2972del.ConclusionWe demonstrate that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas. However, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.
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- 2019
17. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
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Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha, Aylsworth, Arthur, Azizi, Amedeo, Basel, Donald, Bellus, Gary, Bird, Lynne, Blazo, Maria, Burke, Leah, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria, Dills, Shelley, Dosa, Laura, Greenwood, Robert, Griffis, Cristin, Gupta, Punita, Hachen, Rachel, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi, Jordan, Justin, Kannu, Peter, Korf, Bruce, Lewis, Andrea, Listernick, Robert, Lonardo, Fortunato, Mahoney, Maurice, Ojeda, Mayra, McDonald, Marie, McDougall, Carey, Mendelsohn, Nancy, Miller, David, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary, Piscopo, Carmelo, Pond, Dinel, Randolph, Linda, Rauen, Katherine, Rednam, Surya, Rutledge, S, Saletti, Veronica, Schaefer, G, Schorry, Elizabeth, Scott, Daryl, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois, Syed, Ashraf, Trapane, Pamela, Ullrich, Nicole, Wakefield, Emily, Walsh, Laurence, Wangler, Michael, Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine
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A correction has been published to this Article. The PDF and HTML have been updated accordingly.
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- 2019
18. Ovulatory response to GnRH agonist during early and late fall in mares
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Spencer, Kianna M., Podico, Giorgia, Megahed, Ameer A., Jones, Kristi L., Bittar, João H.J., and Canisso, Igor F.
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- 2022
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19. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
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Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko
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- 2021
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20. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
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Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, and Straub, Volker
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- 2021
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21. Ataluren treatment of patients with nonsense mutation dystrophinopathy.
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Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo, Connolly, Anne, Day, John, Flanigan, Kevin, Goemans, Nathalie, Jones, Kristi, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James, Russman, Barry, Ryan, Monique, Tulinius, Mar, Voit, Thomas, Moore, Steven, Lee Sweeney, H, Abresch, Richard, Coleman, Kim, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan, Henricson, Erik, Barth, Jay, Elfring, Gary, Reha, Allen, Spiegel, Robert, Odonnell, Michael, Peltz, Stuart, and McDonald, Craig
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Duchenne muscular dystrophy ,genetic ,nonsense mutation ,orphan ,pediatric ,Adolescent ,Child ,Child ,Preschool ,Codon ,Nonsense ,Dose-Response Relationship ,Drug ,Double-Blind Method ,Dystrophin ,Humans ,International Cooperation ,Male ,Muscular Dystrophy ,Duchenne ,Outcome Assessment ,Health Care ,Oxadiazoles ,Prospective Studies ,Time Factors ,Walking - Abstract
INTRODUCTION: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. METHODS: Randomized, double-blind, placebo-controlled study; males ≥ 5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 mg/kg (N=57); ataluren 20, 20, 40 mg/kg (N=60); or placebo (N=57) for 48 weeks. The primary endpoint was change in 6-Minute Walk Distance (6MWD) at Week 48. RESULTS: Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD Δ=31.3 meters, post hoc P=0.056. Secondary endpoints (timed function tests) showed meaningful differences between ataluren 10, 10, 20 mg/kg, and placebo. CONCLUSIONS: As the first investigational new drug targeting the underlying cause of nm-dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.
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- 2014
22. New and developing therapies in spinal muscular atrophy
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Kariyawasam, Didu, Carey, Kate A., Jones, Kristi J., and Farrar, Michelle A.
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- 2018
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23. 2646 Neurofibromatosis model of care project – development of a state-wide integrated value-based model of care for the neurofibromatoses
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Siow, Sue-Faye, primary, Fleming, Jane, additional, Gul, Hossai, additional, Menezes, Manoj P, additional, Good, Martin, additional, Milosavljevic, Suzana, additional, Maspero, Sally, additional, Gonzalez, Tina, additional, Wong, Claire, additional, Jones, Kristi, additional, and Berman, Yemima, additional
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- 2023
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24. The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
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Davidson, Joanne E, primary, Russell, Jacqueline S, additional, Martinez, Noelia Nunez, additional, Mowat, David R, additional, Jones, Kristi J, additional, Kirk, Edwin P, additional, Kariyawasam, Didu, additional, Farrar, Michelle, additional, and D’Silva, Arlene, additional
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- 2023
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25. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
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Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio
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- 2017
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26. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
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Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P., Laboratory Genetic Metabolic Diseases, and Amsterdam Gastroenterology Endocrinology Metabolism
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Literature review ,Purine-Pyrimidine Metabolism, Inborn Errors ,Brain Diseases ,Movement Disorders ,Carrier frequency ,Endocrinology, Diabetes and Metabolism ,UPB1 ,Beta-ureidopropionase deficiency ,Biochemistry ,Phenotype ,Endocrinology ,β-ureidopropionase ,Genetics ,Humans ,Variant ,Molecular Biology - Abstract
Background: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. Aim: We aimed to reassess the relationship between variants in UPB1 and a clinical phenotype. Methods: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously published case and reporting of additional cases. Results: Fifty-three published cases were identified, and two additional cases are reported here. Of these, 14 were asymptomatic and four had transient neurological features; clinical features in the remainder were variable and included non-neurological presentations. Several of the variants previously reported as pathogenic are present in population databases at frequencies higher than expected for a rare condition. In particular, the variant most frequently reported as pathogenic, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 19 and 1 in 907 being homozygous for the variant in gnomAD v2.1.1. Conclusion: Pending the availability of further evidence, UPB1 should be considered a ‘gene of uncertain clinical significance’. Caution should be used in ascribing clinical significance to biochemical features of beta-ureidopropionase deficiency and/or UPB1 variants in patients with neurodevelopmental phenotypes. UPB1 is not currently suitable for inclusion in gene panels for reproductive genetic carrier screening. Synopsis: The relationship between beta-ureidopropionase deficiency due to UPB1 variants and clinical phenotypes is uncertain.
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- 2022
27. Supplementary Figure S6 from Rapid Expansion of Highly Functional Antigen-Specific T Cells from Patients with Melanoma by Nanoscale Artificial Antigen-Presenting Cells
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Ichikawa, Junya, primary, Yoshida, Tatsuya, primary, Isser, Ariel, primary, Laino, Andressa S., primary, Vassallo, Melinda, primary, Woods, David, primary, Kim, Sojung, primary, Oelke, Mathias, primary, Jones, Kristi, primary, Schneck, Jonathan P., primary, and Weber, Jeffrey S., primary
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- 2023
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28. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
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Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, and Stark, Zornitza
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- 2020
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29. Validation of a fully automated chemiluminescent immunoassay for cattle serum and plasma progesterone measurement
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Megahed, Ameer A., primary, Jones, Kristi L., additional, Bisinotto, Rafael S., additional, Chebel, Ricardo C., additional, Galvão, Klibs N., additional, Chan, Ann M., additional, and Bittar, João H. J., additional
- Published
- 2023
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30. Characterization of the Reproductive Seasonality and Puberty of Florida Native Sheep. I. Female Traits
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cabrera, catalina, primary, Diehl, Brittany N., additional, Lipori, Emma P., additional, Jones, Kristi L., additional, Megahed, Ameer A., additional, Bittar, João H.J., additional, and Rae, D. Owen, additional
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- 2023
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31. AIM™ platform: A new immunotherapy approach for viral diseases
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Langan, David, primary, Wang, Ruipeng, additional, Tidwell, Keshanti, additional, Mitiku, Selome, additional, Farrell, Alison, additional, Johnson, Catrina, additional, Parks, Adam, additional, Suarez, Lauren, additional, Jain, Shweta, additional, Kim, Sojung, additional, Jones, Kristi, additional, Oelke, Mathias, additional, and Zeldis, Jerome, additional
- Published
- 2022
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- View/download PDF
32. Analytical Validation of the IMMULITE® 2000 XPi Progesterone Assay for Quantitative Analysis in Ovine Serum
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Jones, Kristi L., primary, Megahed, Ameer A., additional, Diehl, Brittany N., additional, Chan, Ann M., additional, Hernández, Oscar, additional, Cabrera, Catalina, additional, and Bittar, João H. J., additional
- Published
- 2022
- Full Text
- View/download PDF
33. Assessment of disease progression in dysferlinopathy: A 1-year cohort study
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Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shinʼichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, and Straub, Volker
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- 2019
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34. Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
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Bryen, Samantha J., primary, Yuen, Michaela, additional, Joshi, Himanshu, additional, Dawes, Ruebena, additional, Zhang, Katharine, additional, Lu, Jessica K., additional, Jones, Kristi J., additional, Liang, Christina, additional, Wong, Wui-Kwan, additional, Peduto, Anthony J., additional, Waddell, Leigh B., additional, Evesson, Frances J., additional, and Cooper, Sandra T., additional
- Published
- 2022
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- View/download PDF
35. Water T2 could predict functional decline in patients with dysferlinopathy
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Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish-Dressman, Heather, Smith, Fiona E, Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Jain COS Consortium, Bushby, Kate, Blamire, Andrew M, Straub, Volker, Carlier, Pierre G, Diaz-Manera, Jordi, Jain Foundation, and Diaz-Manera, Jordi
- Subjects
Limb girdle muscular dystrophy ,Magnetic resonance imaging ,Muscular Dystrophies, Limb-Girdle ,Physiology (medical) ,Limb girdle muscular dystrophy 2B ,Limb girdle muscular dystrophy R2 ,Humans ,Water ,Orthopedics and Sports Medicine ,Water T2 ,Muscle, Skeletal ,Muscular Dystrophies - Abstract
[Background]: Water T2 (T2H2O ) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of T2H2O to identify changes in muscle function over time in limb girdle muscular dystrophies., [Methods]: Patients with genetically confirmed dysferlinopathy were assessed as part of the Jain Foundation Clinical Outcomes Study in dysferlinopathy. The cohort included 18 patients from two sites, both equipped with 3-tesla magnetic resonance imaging (MRI) systems from the same vendor. T2H2O value was defined as higher or lower than the median in each muscle bilaterally. The degree of deterioration on four functional tests over 3 years was assessed in a linear model against covariates of high or low T2H2O at baseline, age, disease duration, and baseline function., [Results]: A higher T2H2O at baseline significantly correlated with a greater decline on functional tests in 21 out of 35 muscles and was never associated with slower decline. Higher baseline T2H2O in adductor magnus, vastus intermedius, vastus lateralis, and vastus medialis were the most sensitive, being associated bilaterally with greater decline in multiple timed tests. Patients with a higher than median baseline T2H2O (>40.6 ms) in the right vastus medialis deteriorated 11 points more on the North Star Ambulatory Assessment for Dysferlinopathy and lost an additional 86 m on the 6-min walk than those with a lower T2H2O (, [Conclusions]: In dysferlinopathy, T2H2O did not correlate with current functional ability. However, T2H2O at baseline was higher in patients who worsened more rapidly on functional tests. This suggests that inter-patient differences in functional decline over time may be, in part, explained by different severities of the active muscle damage, assessed by T2H2O measure at baseline. Significant challenges remain in standardizing T2H2O values across sites to allow determining globally applicable thresholds. The results from the present work are encouraging and suggest that T2H2O could be used to improve prognostication, patient selection, and disease modelling for clinical trials., The Jain COS consortium would like to thank the study participants and their families for their invaluable contribution and would also like to acknowledge the ongoing support the Jain Foundation provides in the development, management, and analysis of this study. The Jain Foundation, based in Seattle, USA, is entirely focused on LGMD2B/dysferlinopathy/Miyoshi myopathy. The foundation does not solicit funding from patients but instead funds research and clinical studies worldwide with the goal of finding treatments for dysferlinopathy.
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- 2022
36. 2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now?
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Forbes, Robin, primary, O’Malley, Anna, additional, An, Kim, additional, Crossman, Vanessa, additional, Bayley, Klair, additional, Farrar, Michelle, additional, Jones, Kristi, additional, Nowak, Kristen J, additional, O’Gorman, Cullen, additional, and Yiu, Eppie, additional
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- 2022
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37. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
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Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., and Cooper, Sandra T.
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- 2018
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38. Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
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Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, and Algar, Elizabeth M.
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- 2018
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39. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
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Mayhew, Anna G., primary, James, Meredith K., additional, Moore, Ursula, additional, Sutherland, Helen, additional, Jacobs, Marni, additional, Feng, Jia, additional, Lowes, Linda Pax, additional, Alfano, Lindsay N., additional, Muni Lofra, Robert, additional, Rufibach, Laura E., additional, Rose, Kristy, additional, Duong, Tina, additional, Bello, Luca, additional, Pedrosa-Hernández, Irene, additional, Holsten, Scott, additional, Sakamoto, Chikako, additional, Canal, Aurélie, additional, Sánchez-Aguilera Práxedes, Nieves, additional, Thiele, Simone, additional, Siener, Catherine, additional, Vandevelde, Bruno, additional, DeWolf, Brittney, additional, Maron, Elke, additional, Gordish-Dressman, Heather, additional, Hilsden, Heather, additional, Guglieri, Michela, additional, Hogrel, Jean-Yves, additional, Blamire, Andrew M., additional, Carlier, Pierre G., additional, Spuler, Simone, additional, Day, John W., additional, Jones, Kristi J., additional, Bharucha-Goebel, Diana X., additional, Salort-Campana, Emmanuelle, additional, Pestronk, Alan, additional, Walter, Maggie C., additional, Paradas, Carmen, additional, Stojkovic, Tanya, additional, Mori-Yoshimura, Madoka, additional, Bravver, Elena, additional, Díaz-Manera, Jordi, additional, Pegoraro, Elena, additional, Mendell, Jerry R., additional, and Straub, Volker, additional
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- 2022
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40. Tracing the source and route of uterine colonization by exploring the genetic relationship of Escherichia coli isolated from the reproductive and gastrointestinal tract of dairy cows
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Jones, Kristi, primary, Cunha, Federico, additional, Jeon, Soo Jin, additional, Pérez-Báez, Johanny, additional, Casaro, Segundo, additional, Fan, Peixin, additional, Liu, Ting, additional, Lee, Shinyoung, additional, Jeong, Kwangcheol Casey, additional, Yang, Yongqiang, additional, and Galvão, Klibs N., additional
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- 2022
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41. Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
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Farrar, Michelle A., Kariyawasam, Didu, Grattan, Sarah, Bayley, Klair, Davis, Mark, Holland, Sandra, Waddel, Leigh B., Jones, Kristi, Lorentzos, Michelle, Ravine, Anja, Wotton, Tiffany, and Wiley, Veronica
- Published
- 2023
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42. Analytical Validation of the IMMULITE ® 2000 XPi Progesterone Assay for Quantitative Analysis in Ovine Serum.
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Jones, Kristi L., Megahed, Ameer A., Diehl, Brittany N., Chan, Ann M., Hernández, Oscar, Cabrera, Catalina, and Bittar, João H. J.
- Subjects
- *
PROGESTERONE , *BLOOD serum analysis , *SERUM , *QUANTITATIVE research , *MACHINE performance ,QUALITY assurance standards - Abstract
Simple Summary: Consumer demand for sheep food products are on the rise, thus resulting in shifts in sheep production systems. These shifts require a better understanding of reproductive health in various production systems through research and implementation of these improved reproductive management strategies. To do this it is necessary to utilize safe, timely and accurate tools to measure key reproductive markers. Circulating progesterone concentration is a commonly used reproductive marker in ewes as it can be used to monitor female cyclicity. We evaluated how well the IMMULITE® 2000 XPi (Siemens) measured progesterone concentrations in sheep serum. This system is optimized for use in human clinical settings, and we know that the sample type can influence system performance therefore our objective was to determine the analytical performance of the machine using sheep serum samples spiked with known concentrations of progesterone over the manufacturers reported readable range. Experiments were conducted in accordance with guidelines recommended by the Quality Assurance and Laboratory Standard committee of the ASVCP. Variability within and between runs as well as on independent machines fell within acceptable deviation, therefore we concluded that use of the IMMULITE® 2000 XPi (Siemens) is a safe, timely and accurate system to measure circulating progesterone concentrations in sheep serum. Monitoring circulating progesterone (P4) concentration is an important component of basic and applied reproduction research and clinical settings. IMMULITE® 2000 XPi (Siemens) is a newly upgraded fully automated immunoassay system marketed for human use to measure concentrations of different analytes including P4. Our objective was therefore to characterize the analytical performance of the IMMULITE® 2000 XPi P4 immunoassay across the reportable range in ovine serum. This validation of analytical performance included determining (1) linearity, (2) precision through within-run, and between-run coefficient of variation (CV) calculations, (3) accuracy through bias calculations for spiking-recovery bias and interlaboratory (range and average based) bias for two laboratories across the reportable range (0.2–40 ng/mL). The average within-run and between-run precision (CV%) across the reportable range of the IMMULITE® 2000 XPi P4 immunoassay for serum P4 concentration were both <5%, ranging between 2–8%. The average Observed Total Analytic Error (TEo) reported here for serum P4 concentration across the reportable range was ~30%, ranging from 14.8–59.4%, regardless of the considered bias. Based on these data we conclude that the automated IMMULITE® 2000 XPi P4 immunoassay provides a precise, accurate, reliable, and safe method for measuring P4 concentration ovine serum. [ABSTRACT FROM AUTHOR]
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- 2022
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43. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
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Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional
- Published
- 2022
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- View/download PDF
44. Rapid Expansion of Highly Functional Antigen-Specific T Cells from Patients with Melanoma by Nanoscale Artificial Antigen-Presenting Cells
- Author
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Melinda Vassallo, Jonathan P. Schneck, Tatsuya Yoshida, Jeffrey S. Weber, David M. Woods, Ariel Isser, Sojung Kim, Jones Kristi, Andressa S. Laino, Mathias Oelke, and Junya Ichikawa
- Subjects
0301 basic medicine ,Cancer Research ,T-Lymphocytes ,Antigen-Presenting Cells ,T-Cell Antigen Receptor Specificity ,chemical and pharmacologic phenomena ,Lymphocyte Activation ,Models, Biological ,Article ,Immunophenotyping ,03 medical and health sciences ,0302 clinical medicine ,Artificial antigen presenting cells ,Antigen ,Antigens, Neoplasm ,T-Lymphocyte Subsets ,Cell Line, Tumor ,MHC class I ,Humans ,Cytotoxic T cell ,Lymphocyte Count ,Melanoma ,Antigen Presentation ,biology ,Chemistry ,CD28 ,Dendritic Cells ,030104 developmental biology ,Oncology ,biology.protein ,Cancer research ,Cytokines ,Stem cell ,Antibody ,Biomarkers ,030215 immunology - Abstract
Purpose: Generation of antigen-specific T cells from patients with cancer employs large numbers of peripheral blood cells and/or tumor-infiltrating cells to generate antigen-presenting and effector cells commonly requiring multiple rounds of restimulation ex vivo. We used a novel paramagnetic, nanoparticle-based artificial antigen-presenting cell (nano-aAPC) that combines anti-CD28 costimulatory and human MHC class I molecules that are loaded with antigenic peptides to rapidly expand tumor antigen–specific T cells from patients with melanoma. Experimental Design: Nano-aAPC–expressing HLA-A*0201 molecules and costimulatory anti-CD28 antibody and HLA-A*0201 molecules loaded with MART-1 or gp100 class I–restricted peptides were used to stimulate CD8 T cells purified from the peripheral blood of treatment-naïve or PD-1 antibody–treated patients with stage IV melanoma. Expanded cells were restimulated with fresh peptide-pulsed nano-aAPC at day 7. Phenotype analysis and functional assays including cytokine release, cytolysis, and measurement of avidity were conducted. Results: MART-1–specific CD8 T cells rapidly expanded up to 1,000-fold by day 14 after exposure to peptide-pulsed nano-aAPC. Expanded T cells had a predominantly stem cell memory CD45RA+/CD62L+/CD95+ phenotype; expressed ICOS, PD-1, Tim3, and LAG3; and lacked CD28. Cells from patients with melanoma were polyfunctional; highly avid; expressed IL2, IFNγ, and TNFα; and exhibited cytolytic activity against tumor cell lines. They expanded 2- to 3-fold after exposure to PD-1 antibody in vivo, and expressed a highly diverse T-cell receptor V beta repertoire. Conclusions: Peptide-pulsed nano-aAPC rapidly expanded polyfunctional antigen-specific CD8 T cells with high avidity, potent lytic function, and a stem cell memory phenotype from patients with melanoma.
- Published
- 2020
45. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy
- Author
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Shieh, Perry B, primary, Elfring, Gary, additional, Trifillis, Panayiota, additional, Santos, Claudio, additional, Peltz, Stuart W, additional, Parsons, Julie A, additional, Apkon, Susan, additional, Darras, Basil T, additional, Campbell, Craig, additional, McDonald, Craig M, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bushby, Kate, additional, Chabrol, Brigitte, additional, Ciafaloni, Emma, additional, Columer, Jaume, additional, Comi, Giacomi Pietro, additional, Connolly, Anne, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Guglieri, Michela, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Kaufmann, Petra, additional, Kirschner, Janbernd, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Nevo, Yoram, additional, Osorio, Andrés Nascimento, additional, Péréon, Yann, additional, Quinlivan, Rosaline, additional, Renfroe, J. Ben, additional, Russman, Barry, additional, Ryan, Monique, additional, Sampson, Jacinda, additional, Schara, Ulrike, additional, Selby, Kathryn, additional, Sejersen, Thomas, additional, Sproule, Douglas M, additional, Sweeney, H. Lee, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Vita, Giuseppe, additional, Voit, Thomas, additional, Burns-Wechsler, Stephanie, additional, Wong, Brenda, additional, Abresch, Ted, additional, Henricson, Erik K, additional, Coleman, Kim, additional, Eagle, Michelle, additional, Florence, Julaine, additional, Gappmaier, Ed, additional, McDonald, Craig, additional, Abdel-Hamid, Hoda Z, additional, Bloetzer, Clemens, additional, Butterfield, Russell J, additional, Chae, Jong-Hee, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Heydemann, Peter, additional, Hughes, Imelda, additional, Kaminska, Anna, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Dutra de Resende, Maria Bernadete, additional, Tennekoon, Gihan, additional, Topaloglu, Haluk, additional, Torricelli, Ricardo Erazo, additional, Alfano, Lindsay N, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, and Rose, Kristy J, additional
- Published
- 2021
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46. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
- Author
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Ghaoui, Roula, Cooper, Sandra T., Lek, Monkol, Jones, Kristi, Corbett, Alastair, Reddel, Stephen W., Needham, Merrilee, Liang, Christina, Waddell, Leigh B., Nicholson, Garth, O’Grady, Gina, Kaur, Simranpreet, Ong, Royston, Davis, Mark, Sue, Carolyn M., Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., and Clarke, Nigel F.
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- 2015
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47. Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial
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Davidson, Zoe E., primary, Hughes, Ian, additional, Ryan, Monique M., additional, Kornberg, Andrew J., additional, Cairns, Anita G., additional, Jones, Kristi, additional, Hutchence, Meghan, additional, Sampaio, Hugo, additional, Morrison, Margot, additional, and Truby, Helen, additional
- Published
- 2021
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48. L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial
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Vasiljevski, Emily R., primary, Burns, Joshua, additional, Bray, Paula, additional, Donlevy, Gabrielle, additional, Mudge, Anita J., additional, Jones, Kristi J., additional, Summers, Matthew A., additional, Biggin, Andrew, additional, Munns, Craig F., additional, McKay, Marnee J., additional, Baldwin, Jennifer N., additional, Little, David G., additional, and Schindeler, Aaron, additional
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- 2021
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49. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
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Jacobs, Marni B, James, Meredoith K, Lowes, Linda P, Alfano, Lindsay N, Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E, Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sanchez-Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R, Jain COS Consortium, Mayhew, Anna G, Straub, Volker, Jain Foundation, and John Walton Centre Muscular Dystrophy Research Centre
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0301 basic medicine ,Adult ,Male ,Dysferlinopathy ,medicine.medical_specialty ,Adolescent ,Psychometrics ,Disease ,Age of Onset ,Aged ,Aged, 80 and over ,Child ,Clinical Trials as Topic ,Cohort Studies ,Disease Progression ,Female ,Humans ,Longitudinal Studies ,Middle Aged ,Muscular Dystrophies, Limb-Girdle ,Treatment Outcome ,Young Adult ,Muscular Dystrophies ,03 medical and health sciences ,Limb-Girdle ,0302 clinical medicine ,Physical medicine and rehabilitation ,80 and over ,Medicine ,Muscular dystrophy ,Generalized estimating equation ,Rasch model ,business.industry ,Clinical study design ,medicine.disease ,Clinical trial ,030104 developmental biology ,Neurology ,Cohort ,Neurology (clinical) ,Function and Dysfunction of the Nervous System ,business ,030217 neurology & neurosurgery - Abstract
The Jain COS Consortium., [Objective] Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD., [Methods] We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories., [Results] The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline., [Interpretation] The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967–978, The estimated US $4 million needed to fund this study was provided by the Jain Foundation. (www.jain-foundation.org) The Jain COS consortium would like to thank the study participants and their families for their invaluable contribution. The John Walton Centre Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases (Grant number MR/K000608/1).
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- 2021
50. The molecular basis of chromatin dynamics during nucleotide excision repair
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Zhang, Ling, Jones, Kristi, and Gong, Feng
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DNA repair -- Health aspects -- Research -- Physiological aspects ,Chromatin -- Physiological aspects -- Structure -- Research -- Health aspects ,Histones -- Physiological aspects -- Research -- Health aspects ,Biological sciences ,Structure ,Physiological aspects ,Research ,Health aspects - Abstract
The assembly of DNA into chromatin in eukaryotic cells affects all DNA-related cellular activities, such as replication, transcription, recombination, and repair. Rearrangement of chromatin structure during nucleotide excision repair (NER) was discovered more than 2 decades ago. However, the molecular basis of chromatin dynamics during NER remains undefined. Pioneering studies in the field of gene transcription have shown that ATP-dependent chromatin-remodeling complexes and histone-modifying enzymes play a critical role in chromatin dynamics during transcription. Similarly, recent studies have demonstrated that the SWI/SNF chromatin-remodeling complex facilitates NER both in vitro and in vivo. Additionally, histone acetylation has also been linked to the NER of ultraviolet light damage. In this article, we will discuss the role of these identified chromatin-modifying activities in NER. Key words: chromatin, histones, nucleotide excision repair, SWI/SNF. L'organisation de l'ADN en chromatine chez les cellules eucaryotes affecte toutes les activites cellulaires reliees a l'ADN dont la replication, la transcription, la recombinaison et la reparation. Le rearrangement de la structure de la chromatine lors de la reparation par excision de nucleotides (REN) a ete decouvert il y a plus de 20 ans. Cependant, les bases moleculaires de la dynamique de la chromatine lors de la reparation par excision de nucleotides demeurent mal definies. Les premieres etudes realisees dans le domaine de la transcription genique ont demontre que les complexes de remodelage de la chromatine dependants de l'ATP et les enzymes de modification des histones jouent un role critique dans la dynamique chromatinienne lors de la transcription. De la meme facon, des etudes recentes ont demontre que le complexe de remodelage de la chromatine SWI/SNF facilite la REN tant in vitro qu'in vivo. Qui plus est, l'acetylation des histones est aussi liee a la REN de dommages causes par les rayons UV. Dans ce court article, nous discuterons du role de ces activites modificatrices de la chromatine lors de la reparation par excision de nucleotides. Mots-cles : chromatine, histones, reparation par excision de nucleotides, SWI/SNF. [Traduit par la Redaction], Introduction The majority of DNA in eukaryotic cells exists in the highly condensed structural hierarchy of chromatin (Wolffe 1995). The basic repeating unit of chromatin, the nucleosome core particle, consists [...]
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- 2009
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