Search

Your search keyword '"Jackson, Kelly"' showing total 1,009 results
Start Over Author "Jackson, Kelly"
1,009 results on '"Jackson, Kelly"'

2. New Family Law Statutes in 2023: Selected State Legislation

Author

Gonzalez, Alexa, Kelly, Nora, Tariq, Nimra, Keegan, Nicole, Vitiello, Gianna, Bova, Gino, Oslacky, Taylor, Kreisberg, Tori-Ann, Nulman, Ranielle, Villanueva, Elaine, Patterson, Anya, Tan, Mary Sharmaine, Kelly, James, Fabbrini, Emily, Mcneil, Kaitlyn, Mai, Janie, Sausaitis, Pamela, Colombo, Jillian, Khan, Sarah, Beauregard, Meg, Karpoff, Jordan, Luria, Shelby, Lee, Bogum, Phillips, Madison, Silbowitz, Sarah, Arakanchi, Jack, Shim, Grace, Sexton, Sarah, Richert, Theodore, Edelheit, Arielle, Jackson, Kelly, Martin, Erin, Kennedy, Meredith, Korkis, Evangelia, Neri, Alexandria, Paholski, Abigail, Amada, Jennifer, Herrera, Jorge, Ho, Alexis, Adasa, Chloe Patrice, Martinez, Claudia Campos, Tabachnik, Felicia, Halpin, Natalie, Panikidis, Maria, and Parasnis, Arya

Subjects
Family law -- Surveys, Family and marriage, Law
Abstract

Introduction By Alexa Gonzalez and Nora Kelly This article provides summaries and context for 31 changes to family law that were enacted in 2023 by legislatures in 26 states and [...]

Published
2024

3. Teaching Note--Challenging Monocentricity in Social Work Education: Creating Critical Counterspaces of Multiraciality

Author

Jackson, Kelly F.

Abstract

Multiracial individuals and families is one of the fastest growing racial groups in the United States, and social workers are undoubtedly seeing increases in the number of multiracial clients and family systems they serve. Therefore, there is a need for specialized knowledge on multiraciality, including empirically driven and best practice strategies to better prepare social workers to effectively support racial and ethnic diverse clients inclusive of those living multiracially. Drawing from critical multiracial theory, this teaching note systematically examines whether knowledge of multiracial individuals and families is featured in sessions of past Annual Program Meetings of the Council on Social Work Education covering a 12-year span from 2008 to 2019. Findings directly challenge those in the profession of social work to take explicit measures to include representation of multiraciality in the annual meetings as well as other professional social work conferences to better prepare social workers to counteract the established risks disproportionately affecting individuals and families who identify with more than one race.

Published
2022
Full Text
View/download PDF

4. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Author

Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, and Kleefstra, Tjitske

Subjects
Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

BackgroundThe X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.MethodsWe used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.ResultsTwelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.ConclusionsOur data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.

Published
2020

5. Nontuberculous Mycobacteria and Laboratory Surveillance, Virginia, USA

Author

See, Isaac, Jackson, Kelly A., Byram, Rebecca, Toney, Nadege Charles, Grigg, Cheri, and Magill, Shelley S.

Subjects
Health
Abstract

To the Editor: We read with interest the recent article by Mullen et al. (1) that describes associations between Mycobacterium avium complex and Mycobacterium abscessus pulmonary disease prevalence and environmental [...]

Published
2024
Full Text
View/download PDF

6. The Open Cluster Chemical Abundances and Mapping Survey: II. Precision Cluster Abundances for APOGEE using SDSS DR14

Author

Donor, John, Frinchaboy, Peter M., Cunha, Katia, Thompson, Benjamin, O'Connell, Julia, Zasowski, Gail, Jackson, Kelly M., McGrath, Brianne Meyer, Almeida, Andres, Bizyaev, Dmitry, Carrera, Ricardo, Garcia-Hernandez, D. A., Nitschelm, Christian, Pan, Kaike, and Zamora, Olga

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

The Open Cluster Chemical Abundances and Mapping (OCCAM) survey aims to produce a comprehensive, uniform, infrared-based spectroscopic dataset for hundreds of open clusters, and to constrain key Galactic dynamical and chemical parameters from this sample. This second contribution from the OCCAM survey presents analysis of 259 member stars with [Fe/H] determinations in 19 open clusters, using Sloan Digital Sky Survey Data Release 14 (SDSS/DR14) data from the Apache Point Observatory Galactic Evolution Experiment (APOGEE) and ESA Gaia. This analysis, which includes clusters with R_{GC} ranging from 7 to 13 kpc, measures an [Fe/H] gradient of -0.061 \pm 0.004 dex/kpc. We also confirm evidence of a significant positive gradient in the \alpha-elements ([O/Fe], [Mg/Fe], and [Si/Fe]) and present evidence for a significant negative gradient in iron-peak elements ([Mn/Fe] and [Ni/Fe])., Comment: 19 pages, 9 figures, accepted in AJ

Published
2018
Full Text
View/download PDF

7. 'Complicating My Place:' Multiracial Women Faculty Navigating Monocentricity in Higher Education--A Polyethnography

Author

Jackson, Kelly F., Stone, Dana J., Chilungu, E. Namisi, and Ford, Jillian Carter

Abstract

This polyethnography is an interdisciplinary collaboration between four multiracial women faculty employed at different universities across the US to examine their experiences navigating monocentricity in higher education. This insightful study amplifies the voices of a particular subset of women of color faculty who identify multiracially -- a group overlooked in existing literature examining diverse faculty experiences in higher education. Utilizing Multiracial Critical Race Theory (MultiCrit), we reflex on the similarities and nuances that exist within and between our written stories of experience. Conjointly, our critical reflections reveal the prevalence of monoracism within institutions of higher education, which places both internal and external pressures on multiracial women faculty to demarcate themselves monoracially, while simultaneously maintaining a clandestine borderland identity within their departments. Implications for this study reveal the importance of multiracial counterspaces for multiracial faculty as a form of resistance against monocentricity in US institutions of higher education.

Published
2021
Full Text
View/download PDF

8. Sloan Digital Sky Survey IV: Mapping the Milky Way, Nearby Galaxies, and the Distant Universe

Author

Blanton, Michael R., Bershady, Matthew A., Abolfathi, Bela, Albareti, Franco D., Prieto, Carlos Allende, Almeida, Andres, Alonso-García, Javier, Anders, Friedrich, Anderson, Scott F., Andrews, Brett, Aquino-Ortíz, Erik, Aragón-Salamanca, Alfonso, Argudo-Fernández, Maria, Armengaud, Eric, Aubourg, Eric, Avila-Reese, Vladimir, Badenes, Carles, Bailey, Stephen, Barger, Kathleen A., Barrera-Ballesteros, Jorge, Bartosz, Curtis, Bates, Dominic, Baumgarten, Falk, Bautista, Julian, Beaton, Rachael, Beers, Timothy C., Belfiore, Francesco, Bender, Chad F., Berlind, Andreas A., Bernardi, Mariangela, Beutler, Florian, Bird, Jonathan C., Bizyaev, Dmitry, Blanc, Guillermo A., Blomqvist, Michael, Bolton, Adam S., Boquien, Médéric, Borissova, Jura, Bosch, Remco van den, Bovy, Jo, Brandt, William N., Brinkmann, Jonathan, Brownstein, Joel R., Bundy, Kevin, Burgasser, Adam J., Burtin, Etienne, Busca, Nicolás G., Cappellari, Michele, Carigi, Maria Leticia Delgado, Carlberg, Joleen K., Rosell, Aurelio Carnero, Carrera, Ricardo, Cherinka, Brian, Cheung, Edmond, Chew, Yilen Gómez Maqueo, Chiappini, Cristina, Choi, Peter Doohyun, Chojnowski, Drew, Chuang, Chia-Hsun, Chung, Haeun, Cirolini, Rafael Fernando, Clerc, Nicolas, Cohen, Roger E., Comparat, Johan, da Costa, Luiz, Cousinou, Marie-Claude, Covey, Kevin, Crane, Jeffrey D., Croft, Rupert A. C., Cruz-Gonzalez, Irene, Cuadra, Daniel Garrido, Cunha, Katia, Damke, Guillermo J., Darling, Jeremy, Davies, Roger, Dawson, Kyle, de la Macorra, Axel, De Lee, Nathan, Delubac, Timothée, Di Mille, Francesco, Diamond-Stanic, Aleks, Cano-Díaz, Mariana, Donor, John, Downes, Juan José, Drory, Niv, Bourboux, Hélion du Mas des, Duckworth, Christopher J., Dwelly, Tom, Dyer, Jamie, Ebelke, Garrett, Eisenstein, Daniel J., Emsellem, Eric, Eracleous, Mike, Escoffier, Stephanie, Evans, Michael L., Fan, Xiaohui, Fernández-Alvar, Emma, Fernandez-Trincado, J. G., Feuillet, Diane K., Finoguenov, Alexis, Fleming, Scott W., Font-Ribera, Andreu, Fredrickson, Alexander, Freischlad, Gordon, Frinchaboy, Peter M., Galbany, Lluís, Garcia-Dias, R., García-Hernández, D. A., Gaulme, Patrick, Geisler, Doug, Gelfand, Joseph D., Gil-Marín, Héctor, Gillespie, Bruce A., Goddard, Daniel, Gonzalez-Perez, Violeta, Grabowski, Kathleen, Green, Paul J., Grier, Catherine J., Gunn, James E., Guo, Hong, Guy, Julien, Hagen, Alex, Hahn, ChangHoon, Hall, Matthew, Harding, Paul, Hasselquist, Sten, Hawley, Suzanne L., Hearty, Fred, Hernández, Jonay I. Gonzalez, Ho, Shirley, Hogg, David W., Holley-Bockelmann, Kelly, Holtzman, Jon A., Holzer, Parker H., Huehnerhoff, Joseph, Hutchinson, Timothy A., Hwang, Ho Seong, Ibarra-Medel, Héctor J., Ilha, Gabriele da Silva, Ivans, Inese I., Ivory, KeShawn, Jackson, Kelly, Jensen, Trey W., Johnson, Jennifer A., Jones, Amy, Jönsson, Henrik, Jullo, Eric, Kamble, Vikrant, Kinemuchi, Karen, Kirkby, David, Kitaura, Francisco-Shu, Klaene, Mark, Knapp, Gillian R., Kneib, Jean-Paul, Kollmeier, Juna A., Lacerna, Ivan, Lane, Richard R., Lang, Dustin, Law, David R., Lazarz, Daniel, Goff, Jean-Marc Le, Liang, Fu-Heng, Li, Cheng, LI, Hongyu, Lima, Marcos, Lin, Lihwai, Lin, Yen-Ting, de Lis, Sara Bertran, Liu, Chao, Lizaola, Miguel Angel C. de Icaza, Long, Dan, Lucatello, Sara, Lundgren, Britt, MacDonald, Nicholas K., Machado, Alice Deconto, MacLeod, Chelsea L., Mahadevan, Suvrath, Maia, Marcio Antonio Geimba, Maiolino, Roberto, Majewski, Steven R., Malanushenko, Elena, Malanushenko, Viktor, Manchado, Arturo, Mao, Shude, Maraston, Claudia, Marques-Chaves, Rui, Masters, Karen L., McBride, Cameron K., McDermid, Richard M., McGrath, Brianne, McGreer, Ian D., Peña, Nicolás Medina, Melendez, Matthew, Merloni, Andrea, Merrifield, Michael R., Meszaros, Szabolcs, Meza, Andres, Minchev, Ivan, Minniti, Dante, Miyaji, Takamitsu, More, Surhud, Mulchaey, John, Müller-Sánchez, Francisco, Muna, Demitri, Munoz, Ricardo R., Myers, Adam D., Nair, Preethi, Nandra, Kirpal, Nascimento, Janaina Correa do, Negrete, Alenka, Ness, Melissa, Newman, Jeffrey A., Nichol, Robert C., Nidever, David L., Nitschelm, Christian, Ntelis, Pierros, O'Connell, Julia E., Oelkers, Ryan J., Oravetz, Audrey, Oravetz, Daniel, Pace, Zach, Padilla, Nelson, Palanque-Delabrouille, Nathalie, Palicio, Pedro Alonso, Pan, Kaike, Parikh, Taniya, Pâris, Isabelle, Park, Changbom, Patten, Alim Y., Peirani, Sebastien, Pellejero-Ibanez, Marcos, Penny, Samantha, Percival, Will J., Perez-Fournon, Ismael, Petitjean, Patrick, Pieri, Matthew M., Pinsonneault, Marc, Pisani, Alice, Poleski, Radosław, Prada, Francisco, Prakash, Abhishek, Queiroz, Anna Bárbara de Andrade, Raddick, M. Jordan, Raichoor, Anand, Rembold, Sandro Barboza, Richstein, Hannah, Riffel, Rogemar A., Riffel, Rogério, Rix, Hans-Walter, Robin, Annie C., Rockosi, Constance M., Rodríguez-Torres, Sergio, Roman-Lopes, A., Román-Zúñiga, Carlos, Rosado, Margarita, Ross, Ashley J., Rossi, Graziano, Ruan, John, Ruggeri, Rossana, Rykoff, Eli S., Salazar-Albornoz, Salvador, Salvato, Mara, Sánchez, Ariel G., Aguado, David Sánchez, Sánchez-Gallego, José R., Santana, Felipe A., Santiago, Basílio Xavier, Sayres, Conor, Schiavon, Ricardo P., Schimoia, Jaderson da Silva, Schlafly, Edward F., Schlegel, David J., Schneider, Donald P., Schultheis, Mathias, Schuster, William J., Schwope, Axel, Seo, Hee-Jong, Shao, Zhengyi, Shen, Shiyin, Shetrone, Matthew, Shull, Michael, Simon, Joshua D., Skinner, Danielle, Skrutskie, M. F., Slosar, Anže, Smith, Verne V., Sobeck, Jennifer S., Sobreira, Flavia, Somers, Garrett, Souto, Diogo, Stark, David V., Stassun, Keivan, Stauffer, Fritz, Steinmetz, Matthias, Storchi-Bergmann, Thaisa, Streblyanska, Alina, Stringfellow, Guy S., Suárez, Genaro, Sun, Jing, Suzuki, Nao, Szigeti, Laszlo, Taghizadeh-Popp, Manuchehr, Tang, Baitian, Tao, Charling, Tayar, Jamie, Tembe, Mita, Teske, Johanna, Thakar, Aniruddha R., Thomas, Daniel, Thompson, Benjamin A., Tinker, Jeremy L., Tissera, Patricia, Tojeiro, Rita, Toledo, Hector Hernandez, de la Torre, Sylvain, Tremonti, Christy, Troup, Nicholas W., Valenzuela, Octavio, Valpuesta, Inma Martinez, Vargas-González, Jaime, Vargas-Magaña, Mariana, Vazquez, Jose Alberto, Villanova, Sandro, Vivek, M., Vogt, Nicole, Wake, David, Walterbos, Rene, Wang, Yuting, Weaver, Benjamin Alan, Weijmans, Anne-Marie, Weinberg, David H., Westfall, Kyle B., Whelan, David G., Wild, Vivienne, Wilson, John, Wood-Vasey, W. M., Wylezalek, Dominika, Xiao, Ting, Yan, Renbin, Yang, Meng, Ybarra, Jason E., Yèche, Christophe, Zakamska, Nadia, Zamora, Olga, Zarrouk, Pauline, Zasowski, Gail, Zhang, Kai, Zhao, Gong-Bo, Zheng, Zheng, Zhou, Zhi-Min, Zhu, Guangtun B., Zoccali, Manuela, and Zou, Hu

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratio in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially-resolved spectroscopy for thousands of nearby galaxies (median redshift of z = 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between redshifts z = 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGN and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5-meter Sloan Foundation Telescope at Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5-meter du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in July 2016., Comment: Published in Astronomical Journal

Published
2017
Full Text
View/download PDF

9. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Author

Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, and Cascino, Gregory D

Subjects
Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.

Published
2018

11. Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)

Author

Orbach, Rotem, primary, Syeda, Safoora, additional, Mohassel, Payam, additional, Dohrn, Maike, additional, Lone, Museer A., additional, Donkervoort, Sandra, additional, Foley, A. Reghan, additional, Beijer, Danique, additional, Bayraktar, Elif, additional, Oflazer, Piraye, additional, Munot, Pinki, additional, Rose, Aubrey, additional, Lyons, Michael, additional, Louie, Raymond, additional, Gable, Kenneth, additional, Franca, Marcondes C., additional, Galarza-Brito, Juan E., additional, Eckenweiler, Matthias, additional, Asamoah, Alexander, additional, Majumdar, Anirban, additional, Shieh, Perry, additional, Schumann, Anke, additional, Gupta, Sita D., additional, Lakhotia, Arpita, additional, Jackson, Kelly, additional, Chao, Kathrine R., additional, Winder, Thomas, additional, Catapano, Francesco, additional, Feng, Lucy, additional, Kirschner, Janbernd, additional, Chen, Sitong, additional, Danzi, Matt, additional, Synofzik, Matthis, additional, Muntoni, Francesco, additional, Başak, A. Nazli, additional, Dunn, Teresa M., additional, Hornemann, Thorsten, additional, Zuchner, Stephan, additional, and Bonnemann, Carsten, additional

Published
2024
Full Text
View/download PDF

12. Chemical abundance gradients from open clusters in the Milky Way disk: results from the APOGEE survey

Author

Cunha, Katia, Frinchaboy, Peter M., Souto, Diogo, Thompson, Benjamin, Zasowski, Gail, Prieto, Carlos Allende, Carrera, Ricardo, Chiappini, Cristina, Donor, John, Garcia-Hernandez, Anibal, Perez, Ana Elia Garcia, Hayden, Michael R., Holtzman, Jon, Jackson, Kelly M., Johnson, Jennifer A., Majewski, Steven R., Meszaros, Szabolcs, Meyer, Brianne, Nidever, David L., O'Connell, Julia, Schiavon, Ricardo P., Schultheis, Mathias, Shetrone, Matthew, Simmons, Audrey, Smith, Verne V., and Zamora, Olga

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

Metallicity gradients provide strong constraints for understanding the chemical evolution of the Galaxy. We report on radial abundance gradients of Fe, Ni, Ca, Si, and Mg obtained from a sample of 304 red-giant members of 29 disk open clusters, mostly concentrated at galactocentric distances between ~8 - 15 kpc, but including two open clusters in the outer disk. The observations are from the APOGEE survey. The chemical abundances were derived automatically by the ASPCAP pipeline and these are part of the SDSS III Data Release 12. The gradients, obtained from least squares fits to the data, are relatively flat, with slopes ranging from -0.026 to -0.033 dex/kpc for the alpha-elements [O/H], [Ca/H], [Si/H] and [Mg/H] and -0.035 dex/kpc and -0.040 dex/kpc for [Fe/H] and [Ni/H], respectively. Our results are not at odds with the possibility that metallicity ([Fe/H]) gradients are steeper in the inner disk (R_GC ~7 - 12 kpc) and flatter towards the outer disk. The open cluster sample studied spans a significant range in age. When breaking the sample into age bins, there is some indication that the younger open cluster population in our sample (log age < 8.7) has a flatter metallicity gradient when compared with the gradients obtained from older open clusters., Comment: 4 pages, 3 figures, To appear in Astronomische Nachrichten, special issue "Reconstruction the Milky Way's History: Spectroscopic surveys, Asteroseismology and Chemo-dynamical models", Guest Editors C. Chiappini, J. Montalb\'an, and M. Steffen, AN 2016 (in press)"

Published
2016
Full Text
View/download PDF

13. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.

Published
2020
Full Text
View/download PDF

15. New Red Jewels in Coma Berenices

Author

Terrien, Ryan C., Mahadevan, Suvrath, Deshpande, Rohit, Bender, Chad F., Cargile, Phillip A., Hearty, Frederick R., Cottaar, Michiel, Prieto, Carlos Allende, Fleming, Scott W., Frinchaboy, Peter M., Jackson, Kelly M., Johnson, Jennifer A., Majewski, Steven R., Nidever, David L., Pepper, Joshua, Rodriguez, Joseph E., Schneider, Donald P., Siverd, Robert J., Stassun, Keivan G., Weaver, Benjamin A., and Wilson, John C.

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

We have used Sloan Digital Sky Survey-III (SDSS-III) Apache Point Observatory Galactic Evolution Experiment (APOGEE) radial velocity observations in the near-infrared $H$-band to explore the membership of the nearby ($86.7 \pm 0.9$ pc) open cluster Coma Berenices (Melotte 111), concentrating on the poorly-populated low-mass end of the main sequence. Using SDSS-III APOGEE radial velocity measurements, we confirm the membership of eight K/M dwarf members, providing the first confirmed low-mass members of the Coma Berenices cluster. Using $R\sim2000$ spectra from IRTF-SpeX, we confirm the independently luminosity classes of these targets, and find their metallicities to be consistent with the known solar mean metallicity of Coma Berenices and of M dwarfs in the Solar neighborhood. In addition, the APOGEE spectra have enabled measurement of $v\sin i$ for each target and detection for the first time of the low-mass secondary components of the known binary systems Melotte 111 102 and Melotte 111 120, as well as identification of the previously unknown binary system 2MASS J12214070+2707510. Finally, we use Kilodegree Extremely Little Telescope (KELT) photometry to measure photometric variability and rotation periods for a subset of the Coma Berenices members., Comment: 13 pages, 10 figures, accepted to ApJ

Published
2014
Full Text
View/download PDF

16. Bacterial and Fungal Infections in Persons Who Inject Drugs — Western New York, 2017

Author

Hartnett, Kathleen P., Jackson, Kelly A., Felsen, Christina, McDonald, Robert, Bardossy, Ana Cecilia, Gokhale, Runa H., Kracalik, Ian, Lucas, Todd, McGovern, Olivia, Van Beneden, Chris A., Mendoza, Michael, Bohm, Michele, Brooks, John T., Asher, Alice K., Magill, Shelley S., Fiore, Anthony, Blog, Debra, Dufort, Elizabeth M., See, Isaac, and Dumyati, Ghinwa

Published
2019

17. The Open Cluster Chemical Analysis and Mapping Survey: Local Galactic Metallicity Gradient with APOGEE using SDSS DR10

Author

Frinchaboy, Peter M., Thompson, Benjamin, Jackson, Kelly M., O'Connell, Julia, Meyer, Brianne, Zasowski, Gail, Majewski, Steven R., Chojnowksi, S. Drew, Johnson, Jennifer A., Prieto, Carlos Allende, Beers, Timothy C., Bizyaev, Dmitry, Brewington, Howard, Cunha, Katia, Ebelke, Garrett, Perez, Ana Elia Garcia, Hearty, Frederick R., Holtzman, Jon, Kinemuchi, Karen, Malanushenko, Elena, Malanushenko, Viktor, Marchante, Moses, Meszaros, Szabolcs, Muna, Demitri, Nidever, David L., Oravetz, Daniel, Pan, Kaike, Schiavon, Ricardo P., Schneider, Donald P., Shetrone, Matthew, Simmons, Audrey, Snedden, Stephanie, Smith, Verne V., and Wilson, John C.

Subjects
Astrophysics - Astrophysics of Galaxies
Abstract

The Open Cluster Chemical Analysis and Mapping (OCCAM) Survey aims to produce a comprehensive, uniform, infrared-based dataset for hundreds of open clusters, and constrain key Galactic dynamical and chemical parameters from this sample. This first contribution from the OCCAM survey presents analysis of 141 members stars in 28 open clusters with high-resolution metallicities derived from a large uniform sample collected as part of the SDSS-III/Apache Point Observatory Galactic Evolution Experiment (APOGEE). This sample includes the first high-resolution metallicity measurements for 22 open clusters. With this largest ever uniformly observed sample of open cluster stars we investigate the Galactic disk gradients of both [M/H] and [alpha/M]. We find basically no gradient across this range in [alpha/M], but [M/H] does show a gradient for R_{GC} < 10 kpc and a significant flattening beyond R_{GC} = 10 kpc. In particular, whereas fitting a single linear trend yields an [M/H] gradient of -0.09 +/- 0.03$ dex/kpc --- similar to previously measure gradients inside 13 kpc --- by independently fitting inside and outside 10 kpc separately we find a significantly steeper gradient near the Sun (7.9 <= R_{GC} <= 10) than previously found (-0.20 +/- 0.08 dex/kpc) and a nearly flat trend beyond 10 kpc (-0.02 +/- 0.09 dex/kpc)., Comment: 6 pages, 4 figures, ApJ letters, in press

Published
2013
Full Text
View/download PDF

18. The Tenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the SDSS-III Apache Point Observatory Galactic Evolution Experiment

Author

Ahn, Christopher P., Alexandroff, Rachael, Prieto, Carlos Allende, Anders, Friedrich, Anderson, Scott F., Anderton, Timothy, Andrews, Brett H., Aubourg, Éric, Bailey, Stephen, Bastien, Fabienne A., Bautista, Julian E., Beers, Timothy C., Beifiori, Alessandra, Bender, Chad F., Berlind, Andreas A., Beutler, Florian, Bhardwaj, Vaishali, Bird, Jonathan C., Bizyaev, Dmitry, Blake, Cullen H., Blanton, Michael R., Blomqvist, Michael, Bochanski, John J., Bolton, Adam S., Borde, Arnaud, Bovy, Jo, Bradley, Alaina Shelden, Brandt, W. N., Brauer, Dorothée, Brinkmann, J., Brownstein, Joel R., Busca, Nicolás G., Carithers, William, Carlberg, Joleen K., Carnero, Aurelio R., Carr, Michael A., Chiappini, Cristina, Chojnowski, S. Drew, Chuang, Chia-Hsun, Comparat, Johan, Crepp, Justin R., Cristiani, Stefano, Croft, Rupert A. C., Cuesta, Antonio J., Cunha, Katia, da Costa, Luiz N., Dawson, Kyle S., De Lee, Nathan, Dean, Janice D. R., Delubac, Timothée, Deshpande, Rohit, Dhital, Saurav, Ealet, Anne, Ebelke, Garrett L., Edmondson, Edward M., Eisenstein, Daniel J., Epstein, Courtney R., Escoffier, Stephanie, Esposito, Massimiliano, Evans, Michael L., Fabbian, D., Fan, Xiaohui, Favole, Ginevra, Castellá, Bruno Femenía, Alvar, Emma Fernández, Feuillet, Diane, Ak, Nurten Filiz, Finley, Hayley, Fleming, Scott W., Font-Ribera, Andreu, Frinchaboy, Peter M., Galbraith-Frew, J. G., García-Hernández, D. A., Pérez, Ana E. García, Ge, Jian, Génova-Santos, R., Gillespie, Bruce A., Girardi, Léo, Hernández, Jonay I. González, Gott III, J. Richard, Gunn, James E., Guo, Hong, Halverson, Samuel, Harding, Paul, Harris, David W., Hasselquist, Sten, Hawley, Suzanne L., Hayden, Michael, Hearty, Frederick R., Davó, Artemio Herrero, Ho, Shirley, Hogg, David W., Holtzman, Jon A., Honscheid, Klaus, Huehnerhoff, Joseph, Ivans, Inese I., Jackson, Kelly M., Jiang, Peng, Johnson, Jennifer A., Kirkby, David, Kinemuchi, K., Klaene, Mark A., Kneib, Jean-Paul, Koesterke, Lars, Lan, Ting-Wen, Lang, Dustin, Goff, Jean-Marc Le, Lee, Khee-Gan, Lee, Young Sun, Long, Daniel C., Loomis, Craig P., Lucatello, Sara, Lupton, Robert H., Ma, Bo, Mack III, Claude E., Mahadevan, Suvrath, Maia, Marcio A. G., Majewski, Steven R., Malanushenko, Elena, Malanushenko, Viktor, Manchado, A., Manera, Marc, Maraston, Claudia, Margala, Daniel, Martell, Sarah L., Masters, Karen L., McBride, Cameron K., McGreer, Ian D., McMahon, Richard G., Ménard, Brice, Mészáros, Sz., Miralda-Escudé, Jordi, Miyatake, Hironao, Montero-Dorta, Antonio D., Montesano, Francesco, More, Surhud, Morrison, Heather L., Muna, Demitri, Munn, Jeffrey A., Myers, Adam D., Nguyen, Duy Cuong, Nichol, Robert C., Nidever, David L., Noterdaeme, Pasquier, Nuza, Sebastián E., O'Connell, Julia E., O'Connell, Robert W., O'Connell, Ross, Olmstead, Matthew D., Oravetz, Daniel J., Owen, Russell, Padmanabhan, Nikhil, Palanque-Delabrouille, Nathalie, Pan, Kaike, Parejko, John K., Pâris, Isabelle, Pepper, Joshua, Percival, Will J., Pérez-Ràfols, Ignasi, Perottoni, Hélio Dotto, Petitjean, Patrick, Pieri, Matthew M., Pinsonneault, M. H., Prada, Francisco, Price-Whelan, Adrian M., Raddick, M. Jordan, Rahman, Mubdi, Rebolo, Rafael, Reid, Beth A., Richards, Jonathan C., Riffel, Rogério, Robin, Annie C., Rocha-Pinto, H. J., Rockosi, Constance M., Roe, Natalie A., Ross, Ashley J., Ross, Nicholas P., Rossi, Graziano, Roy, Arpita, Rubiño-Martin, J. A., Sabiu, Cristiano G., Sánchez, Ariel G., Santiago, Basílio, Sayres, Conor, Schiavon, Ricardo P., Schlegel, David J., Schlesinger, Katharine J., Schmidt, Sarah J., Schneider, Donald P., Schultheis, Mathias, Sellgren, Kris, Seo, Hee-Jong, Shen, Yue, Shetrone, Matthew, Shu, Yiping, Simmons, Audrey E., Skrutskie, M. F., Slosar, Anže, Smith, Verne V., Snedden, Stephanie A., Sobeck, Jennifer S., Sobreira, Flavia, Stassun, Keivan G., Steinmetz, Matthias, Strauss, Michael A., Streblyanska, Alina, Suzuki, Nao, Swanson, Molly E. C., Terrien, Ryan C., Thakar, Aniruddha R., Thomas, Daniel, Thompson, Benjamin A., Tinker, Jeremy L., Tojeiro, Rita, Troup, Nicholas W., Vandenberg, Jan, Magaña, Mariana Vargas, Viel, Matteo, Vogt, Nicole P., Wake, David A., Weaver, Benjamin A., Weinberg, David H., Weiner, Benjamin J., White, Martin, White, Simon D. M., Wilson, John C., Wisniewski, John P., Wood-Vasey, W. M., Yèche, Christophe, York, Donald G., Zamora, O., Zasowski, Gail, Zehavi, Idit, Zheng, Zheng, and Zhu, Guangtun

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - Cosmology and Nongalactic Astrophysics, Astrophysics - Astrophysics of Galaxies
Abstract

The Sloan Digital Sky Survey (SDSS) has been in operation since 2000 April. This paper presents the tenth public data release (DR10) from its current incarnation, SDSS-III. This data release includes the first spectroscopic data from the Apache Point Observatory Galaxy Evolution Experiment (APOGEE), along with spectroscopic data from the Baryon Oscillation Spectroscopic Survey (BOSS) taken through 2012 July. The APOGEE instrument is a near-infrared R~22,500 300-fiber spectrograph covering 1.514--1.696 microns. The APOGEE survey is studying the chemical abundances and radial velocities of roughly 100,000 red giant star candidates in the bulge, bar, disk, and halo of the Milky Way. DR10 includes 178,397 spectra of 57,454 stars, each typically observed three or more times, from APOGEE. Derived quantities from these spectra (radial velocities, effective temperatures, surface gravities, and metallicities) are also included.DR10 also roughly doubles the number of BOSS spectra over those included in the ninth data release. DR10 includes a total of 1,507,954 BOSS spectra, comprising 927,844 galaxy spectra; 182,009 quasar spectra; and 159,327 stellar spectra, selected over 6373.2 square degrees., Comment: 15 figures; 1 table. Accepted to ApJS. DR10 is available at http://www.sdss3.org/dr10 v3 fixed 3 diacritic markings in the arXiv HTML listing of the author names

Published
2013
Full Text
View/download PDF

20. SDSS-III/APOGEE: Detailed Abundances of Galactic Star Clusters

Author

Frinchaboy, Peter M, Zasowski, Gail, Jackson, Kelly, Johnson, Jennifer A., Majewski, Steven R., Shetrone, Matthew, and Rocha, Aaron

Subjects
Astrophysics - Astrophysics of Galaxies, Astrophysics - Solar and Stellar Astrophysics
Abstract

The Sloan Digital Sky Survey III/Apache Point Observatory Galactic Evolution Experiment (SDSS-III/APOGEE) is a large-scale spectroscopic survey of Galactic stars and star clusters. The SDSS-III/APOGEE survey is designed to produce high-S/N, R = 27,500-31,000 spectra that cover a wavelength range of 1.51 to 1.68 microns. By utilizing APOGEE's excellent kinematics (error <= 0.5 km/s) and abundances (errors ~ 0.1 dex), we will be able to study star cluster kinematics and chemical properties in detail. Over the course of the 3-year survey beginning in 2011, APOGEE will target 25-30 key open and globular clusters. In addition, the large area coverage of the SDSS focal plane will also allow us to target stars in 100-200 additional star clusters during the main survey observations. We present the strength of APOGEE for both open and globular star cluster studies and the methods of identifying probable clusters members utilizing 2MASS and IRAC/WISE data., Comment: 7 pages, 2 figures, to appear in "JENAM 2010: Star Clusters in the Era of Large Surveys," Springer-Verlag in the Astrophysics and Space Science series. Eds. A. Moitinho & J.F. Alves

Published
2010

21. THE TENTH DATA RELEASE OF THE SLOAN DIGITAL SKY SURVEY: FIRST SPECTROSCOPIC DATA FROM THE SDSS-III APACHE POINT OBSERVATORY GALACTIC EVOLUTION EXPERIMENT

Author

Ahn, Christopher P, Alexandroff, Rachael, Prieto, Carlos Allende, Anders, Friedrich, Anderson, Scott F, Anderton, Timothy, Andrews, Brett H, Aubourg, Éric, Bailey, Stephen, Bastien, Fabienne A, Bautista, Julian E, Beers, Timothy C, Beifiori, Alessandra, Bender, Chad F, Berlind, Andreas A, Beutler, Florian, Bhardwaj, Vaishali, Bird, Jonathan C, Bizyaev, Dmitry, Blake, Cullen H, Blanton, Michael R, Blomqvist, Michael, Bochanski, John J, Bolton, Adam S, Borde, Arnaud, Bovy, Jo, Bradley, Alaina Shelden, Brandt, WN, Brauer, Dorothée, Brinkmann, J, Brownstein, Joel R, Busca, Nicolás G, Carithers, William, Carlberg, Joleen K, Carnero, Aurelio R, Carr, Michael A, Chiappini, Cristina, Chojnowski, S Drew, Chuang, Chia-Hsun, Comparat, Johan, Crepp, Justin R, Cristiani, Stefano, Croft, Rupert AC, Cuesta, Antonio J, Cunha, Katia, da Costa, Luiz N, Dawson, Kyle S, De Lee, Nathan, Dean, Janice DR, Delubac, Timothée, Deshpande, Rohit, Dhital, Saurav, Ealet, Anne, Ebelke, Garrett L, Edmondson, Edward M, Eisenstein, Daniel J, Epstein, Courtney R, Escoffier, Stephanie, Esposito, Massimiliano, Evans, Michael L, Fabbian, D, Fan, Xiaohui, Favole, Ginevra, Castellá, Bruno Femenía, Alvar, Emma Fernández, Feuillet, Diane, Ak, Nurten Filiz, Finley, Hayley, Fleming, Scott W, Font-Ribera, Andreu, Frinchaboy, Peter M, Galbraith-Frew, JG, García-Hernández, DA, Pérez, Ana E García, Ge, Jian, Génova-Santos, R, Gillespie, Bruce A, Girardi, Léo, Hernández, Jonay I González, Gott, J Richard, Gunn, James E, Guo, Hong, Halverson, Samuel, Harding, Paul, Harris, David W, Hasselquist, Sten, Hawley, Suzanne L, Hayden, Michael, Hearty, Frederick R, Davó, Artemio Herrero, Ho, Shirley, Hogg, David W, Holtzman, Jon A, Honscheid, Klaus, Huehnerhoff, Joseph, Ivans, Inese I, Jackson, Kelly M, Jiang, Peng, Johnson, Jennifer A, and Kinemuchi, K

Subjects
atlases, catalogs, surveys, astro-ph.IM, astro-ph.CO, astro-ph.GA, Astronomical and Space Sciences, Atomic, Molecular, Nuclear, Particle and Plasma Physics, Physical Chemistry (incl. Structural), Astronomy & Astrophysics
Abstract

The Sloan Digital Sky Survey (SDSS) has been in operation since 2000 April. This paper presents the Tenth Public Data Release (DR10) from its current incarnation, SDSS-III. This data release includes the first spectroscopic data from the Apache Point Observatory Galaxy Evolution Experiment (APOGEE), along with spectroscopic data from the Baryon Oscillation Spectroscopic Survey (BOSS) taken through 2012 July. The APOGEE instrument is a near-infrared R 22,500 300 fiber spectrograph covering 1.514-1.696 μm. The APOGEE survey is studying the chemical abundances and radial velocities of roughly 100,000 red giant star candidates in the bulge, bar, disk, and halo of the Milky Way. DR10 includes 178,397 spectra of 57,454 stars, each typically observed three or more times, from APOGEE. Derived quantities from these spectra (radial velocities, effective temperatures, surface gravities, and metallicities) are also included. DR10 also roughly doubles the number of BOSS spectra over those included in the Ninth Data Release. DR10 includes a total of 1,507,954 BOSS spectra comprising 927,844 galaxy spectra, 182,009 quasar spectra, and 159,327 stellar spectra selected over 6373.2 deg2. © 2014. The American Astronomical Society. All rights reserved..

Published
2014

22. 1443. Characteristics of nursing homes with higher rates of invasive methicillin-resistant Staphylococcus aureus infections

Author

See, Isaac, primary, Jackson, Kelly A, additional, Li, Rongxia, additional, Paul, Prabasaj, additional, Hatfield, Kelly M, additional, Nadle, Joelle, additional, Petit, Susan, additional, Wurm, Daniel, additional, Pall, Allison, additional, Ray, Susan M, additional, Harrison, Lee, additional, Jeffrey, Laura, additional, Bernu, Carmen, additional, Lynfield, Ruth, additional, Dumyati, Ghinwa, additional, Gellert, Anita, additional, Markus, Tiffanie M, additional, Schaffner, William, additional, Jacobs Slifka, Kara M, additional, and Stone, Nimalie D, additional

Published
2023
Full Text
View/download PDF

24. 740. Healthcare-associated invasive Staphylococcus aureus among adults with prior COVID-19-associated hospitalization, 2020

Author

Jackson, Kelly A, primary, Resler, Sydney, additional, Nadle, Joelle, additional, Petit, Susan, additional, Yousey-Hindes, Kimberly, additional, Ray, Susan M, additional, Lynfield, Ruth, additional, Como-Sabetti, Kathryn, additional, Bernu, Carmen, additional, Dumyati, Ghinwa, additional, Tracy, Marissa, additional, Schaffner, William, additional, Patel, Kadam, additional, Havers, Fiona P, additional, Biggs, Holly M, additional, and See, Isaac, additional

Published
2023
Full Text
View/download PDF

25. Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Author

Syeda, Safoora B, primary, Lone, Museer A, additional, Mohassel, Payam, additional, Donkervoort, Sandra, additional, Munot, Pinki, additional, França, Marcondes C, additional, Galarza-Brito, Juan Eli, additional, Eckenweiler, Matthias, additional, Asamoah, Alexander, additional, Gable, Kenneth, additional, Majumdar, Anirban, additional, Schumann, Anke, additional, Gupta, Sita D, additional, Lakhotia, Arpita, additional, Shieh, Perry B, additional, Foley, A Reghan, additional, Jackson, Kelly E, additional, Chao, Katherine R, additional, Winder, Thomas L, additional, Catapano, Francesco, additional, Feng, Lucy, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Dunn, Teresa M, additional, Hornemann, Thorsten, additional, and Bönnemann, Carsten G, additional

Published
2023
Full Text
View/download PDF

29. Multistate Outbreak of Listeriosis Associated with Packaged Leafy Green Salads, United States and Canada, 2015-2016

Author

Self, Julie L., Conrad, Amanda, Stroika, Steven, Jackson, Alikeh, Whitlock, Laura, Jackson, Kelly A., Beal, Jennifer, Wellman, Allison, Fatica, Marianne K., Bidol, Sally, Huth, Paula Pennell, Hamel, Meghan, Franklin, Kristyn, Tschetter, Lorelee, Kopko, Christine, Kirsch, Penelope, Wise, Matthew E., and Basler, Colin

Subjects
Canada. Canadian Food Inspection Agency, United States. Department of Agriculture, United States. Food and Drug Administration, United States. Centers for Disease Control and Prevention, Dole Food Company Inc., Listeria, Listeriosis, Genomes, Food contamination, Vegetables, Genomics, Salads, Food packaging, Retail trade, Alleles, Best practices, Public health, Health
Abstract

Invasive Listeria monocytogenes infections (listeriosis) are the third leading cause of death from foodborne illness in the United States and cause an estimated 1,500 infections, 1,400 hospitalizations, and 250 deaths [...]

Published
2019

32. Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Author

Lemke, Amy A., primary, Thompson, Michelle L., additional, Gimpel, Emily C., additional, McNamara, Katelyn C., additional, Rich, Carla A., additional, Finnila, Candice R., additional, Cochran, Meagan E., additional, Lawlor, James M. J., additional, East, Kelly M., additional, Bowling, Kevin M., additional, Latner, Donald R., additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Greve, Veronica, additional, Gray, David E., additional, Felker, Stephanie A., additional, Meddaugh, Hannah, additional, Cannon, Ashley, additional, Luedecke, Amanda, additional, Jackson, Kelly E., additional, Hendon, Laura G., additional, Janani, Hillary M., additional, Johnston, Marla, additional, Merin, Lee Ann, additional, Deans, Sarah L., additional, Tuura, Carly, additional, Hughes, Trent, additional, Williams, Heather, additional, Laborde, Kelly, additional, Neu, Matthew B., additional, Patrick-Esteve, Jessica, additional, Hurst, Anna C. E., additional, Kirmse, Brian M., additional, Savich, Renate, additional, Spedale, Steven B., additional, Knight, Sara J., additional, Barsh, Gregory S., additional, Korf, Bruce R., additional, Cooper, Gregory M., additional, and Brothers, Kyle B., additional

Published
2023
Full Text
View/download PDF

33. Factors associated with SARS-CoV-2 and community-onset invasive Staphylococcus aureus coinfection, 2020

Author

Jackson, Kelly, primary, Resler, Sydney, additional, Nadle, Joelle, additional, Petit, Susan, additional, Ray, Susan, additional, Harrison, Lee, additional, Lynfield, Ruth, additional, Como-Sabetti, Kathryn, additional, Bernu, Carmen, additional, Dumyati, Ghinwa, additional, Tracy, Marissa, additional, Schaffner, William, additional, Biggs, Holly, additional, and See, Isaac, additional

Published
2023
Full Text
View/download PDF

36. Positionality in Critical Feminist Scholarship: Situating Social Locations and Power Within Knowledge Production.

Author

Jackson, Kelly F., Goodkind, Sara, Diaz, Mery, Karandikar, Sharvari, Beltrán, Ramona, Kim, Mimi E., Zelnick, Jennifer R., Gibson, Margaret F., Mountz, Sarah, Miranda Samuels, Gina E., and Harrell, Sam

Subjects
*SCHOLARLY method, *SERIAL publications, *FEMINIST criticism, *SOCIAL isolation, *INTELLECT, *SOCIAL case work, *REFLECTION (Philosophy)
Abstract

An editorial is presented on positionality in critical feminist scholarship. Topics include considerations and questions focused on positionality to enhance our work as a board and the work of researchers, authors, and reviewers; and positionalities across race, ethnicity, nationality, gender, sexuality, immigration status, religion, class, age, ability.

Published
2024
Full Text
View/download PDF

37. Recurrent de novo SPTLC2 variant causes childhoodonset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Author

Syeda, Safoora B., Lone, Museer A., Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França Jr., Marcondes C., Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D., Lakhotia, Arpita, Shieh, Perry B., Foley, A. Reghan, Jackson, Kelly E., Chao, Katherine R., Winder, Thomas L., and Catapano, Francesco

Subjects
AMYOTROPHIC lateral sclerosis, SPASTICITY, FAMILIAL spastic paraplegia, LIQUID chromatography-mass spectrometry
Published
2024
Full Text
View/download PDF

39. Intense Focus of Alveolar Echinococcosis, South Kyrgyzstan

Author

Jackson, Kelly A., Gould, L. Hannah, Hunter, Jennifer C., Kucerova, Bebezov, Bakhadyr, Mamashev, Nurlan, Umetaliev, Tilek, Ziadinov, Iskender, Craig, Philip S., Joekel, Deborah E., Deplazes, Peter, Grimm, Felix, and Torgerson, Paul R.

Subjects
Prevalence studies (Epidemiology), Echinococcosis -- Distribution, Lung diseases -- Distribution, Company distribution practices, Health
Abstract

Human alveolar echinococcosis (AE), caused by the larval stage of Echinococcus multilocularis, is a lethal parasitic zoonosis if untreated (1,2). In China, hyperendemic foci of disease have been described (3) [...]

Published
2018
Full Text
View/download PDF

40. Epidemiology of Pulmonary and Extrapulmonary Nontuberculous Mycobacteria Infections in Four U.S. Emerging Infections Program Sites: A Six-Month Pilot

Author

Grigg, Cheri, primary, Jackson, Kelly A, additional, Barter, Devra, additional, Czaja, Christopher A, additional, Johnston, Helen, additional, Lynfield, Ruth, additional, Snippes Vagnone, Paula, additional, Tourdot, Laura, additional, Spina, Nancy, additional, Dumyati, Ghinwa, additional, Cassidy, P Maureen, additional, Pierce, Rebecca, additional, Henkle, Emily, additional, Prevots, D Rebecca, additional, Salfinger, Max, additional, Winthrop, Kevin L, additional, Charles Toney, Nadege, additional, and Magill, Shelley S, additional

Published
2023
Full Text
View/download PDF

42. Implementation of Nationwide Real-time Whole-genome Sequencing to Enhance Listeriosis Outbreak Detection and Investigation

Author

Jackson, Brendan R., Tarr, Cheryl, Strain, Errol, Jackson, Kelly A., Conrad, Amanda, Carleton, Heather, Katz, Lee S., Stroika, Steven, Gould, L. Hannah, Mody, Rajal K., Silk, Benjamin J., Beal, Jennifer, Chen, Yi, Timme, Ruth, Doyle, Matthew, Fields, Angela, Wise, Matthew, Tillman, Glenn, Defibaugh-Chavez, Stephanie, Kucerova, Zuzana, Sabol, Ashley, Roache, Katie, Trees, Eija, Simmons, Mustafa, Wasilenko, Jamie, Kubota, Kristy, Pouseele, Hannes, Klimke, William, Besser, John, Brown, Eric, Allard, Marc, and Gerner-Smidt, Peter

Published
2016

43. Content and Process in a Teaching Workshop for Faculty and Doctoral Students

Author

Rinfrette, Elaine S., Maccio, Elaine M., Coyle, James P., Jackson, Kelly F., Hartinger-Saunders, Robin M., Rine, Christine M., and Shulman, Lawrence

Abstract

Teaching in higher education is often not addressed in doctoral education, even though many doctoral graduates will eventually teach. This article describes a biweekly teaching workshop, presents pitfalls and challenges that beginning instructors face, and advocates pedagogical training for doctoral students. Led by a well-known social work scholar Lawrence Shulman, the workshops were a place for participants to share their concerns and process solutions. Here, each student's scenario serves as a backdrop for Dr. Shulman's explanation of classroom content and process, for which the workshop served as a parallel process. This discussion is framed by the extant literature on preparing higher education instructors during the course of doctoral education.

Published
2015
Full Text
View/download PDF

44. Recurrent de novo SPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Author

Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, Franca, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, and Bo¨nnemann, Carsten G

Abstract

BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms an important subgroup of ALS. We recently reported specific SPTLC1variants resulting in sphingolipid overproduction as a cause for juvenile ALS. Here, we report six patients from six independent families with a recurrent, de novo, heterozygous variant in SPTLC2c.778G>A [p.Glu260Lys] manifesting with juvenile ALS.MethodsClinical examination of the patients along with ancillary and genetic testing, followed by biochemical investigation of patients’ blood and fibroblasts, was performed.ResultsAll patients presented with early-childhood-onset progressive weakness, with signs and symptoms of upper and lower motor neuron degeneration in multiple myotomes, without sensory neuropathy. These findings were supported on ancillary testing including nerve conduction studies and electromyography, muscle biopsies and muscle ultrasound studies. Biochemical investigations in plasma and fibroblasts showed elevated levels of ceramides and unrestrained de novo sphingolipid synthesis. Our studies indicate that SPTLC2variant [c.778G>A, p.Glu260Lys] acts distinctly from hereditary sensory and autonomic neuropathy (HSAN)-causing SPTLC2variants by causing excess canonical sphingolipid biosynthesis, similar to the recently reported SPTLC1ALS associated pathogenic variants. Our studies also indicate that serine supplementation, which is a therapeutic in SPTLC1and SPTCL2-associated HSAN, is expected to exacerbate the excess sphingolipid synthesis in serine palmitoyltransferase (SPT)-associated ALS.ConclusionsSPTLC2is the second SPT-associated gene that underlies monogenic, juvenile ALS and further establishes alterations of sphingolipid metabolism in motor neuron disease pathogenesis. Our findings also have important therapeutic implications: serine supplementation must be avoided in SPT-associated ALS, as it is expected to drive pathogenesis further.

Published
2024
Full Text
View/download PDF

45. A Critical Content Analysis of Multiracial Content at Society for Social Work and Research, 2009–2022.

Author

Jackson, Kelly Faye

Subjects
*RACISM, *HUMAN research subjects, *RACE, *CONFERENCES & conventions, *FAMILIES, *INSTITUTIONAL racism, *SOCIAL work research, *CONTENT analysis
Abstract

The article presents a critical content analysis of multiracial content at the annual conference programs of the Society for Social Work and Research from 2009-2022. The analysis examined the use of multiracial keywords in accordance to the tenets of critical theory focused on the dynamics of power and cultural representation to challenge inequality and uncover racism. It identified frequently occurring concepts and themes such as Black, White, youth, students, care, services and experiences.

Published
2023
Full Text
View/download PDF

46. A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration

Author

Gorin, Michael B, Jackson, Kelly E, Ferrell, Robert E, Sheffield, Val C, Jacobson, Samuel G, Gass, J Donald M, Mitchell, Elysey, and Stone, Edwin M

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Neurodegenerative, Eye Disease and Disorders of Vision, Macular Degeneration, Clinical Research, Genetics, Aging, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Aged, Amino Acid Sequence, Arginine, Base Sequence, Chromosome Deletion, DNA Mutational Analysis, Electrophoresis, Polyacrylamide Gel, Eye Proteins, Female, Fluorescein Angiography, Fundus Oculi, Humans, Intermediate Filament Proteins, Male, Membrane Glycoproteins, Middle Aged, Molecular Sequence Data, Nerve Tissue Proteins, Pedigree, Peripherins, Phenotype, Point Mutation, Polymerase Chain Reaction, Proline, Retinal Degeneration, Visual Fields, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

BackgroundMutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal dominant trait. Screening for peripherin/RDS mutations identified a previously unreported nucleotide alteration in all of the affected individuals. Two additional families later were found to have this same mutation.MethodsDNA samples from the members of three unrelated families were screened for peripherin/RDS mutations by denaturing gradient gel electrophoresis of the polymerase chain reaction-amplified peripherin/RDS coding sequences. The sequence change that was detected was further characterized by DNA sequencing. Family members were examined and evaluated with psychophysical and electrophysiologic methods.ResultsA proline to arginine mutation in codon 210 of peripherin/RDS was found in all clinically affected individuals. Macular changes included extensive geographic atrophy, pigment epithelial changes, and/or drusen. The proline to arginine mutation was not found among 100 healthy individuals, making it unlikely to be a nondisease-causing polymorphism.ConclusionsThe authors identified a novel peripherin/RDS gene mutation associated with autosomal dominant retinal degeneration in patients from three different families. The largest family showed a broad variability in the expressivity of the mutation. The overlap of clinical features with those of age-related maculopathy highlights the need to consider photoreceptor-specific genes as potential factors in the etiology of the latter condition.

Published
1995

47. 2054. Trends in Incidence and Epidemiology of Methicillin-Resistant Staphylococcus aureus Bloodstream Infection, 2005–2020

Author

Biggs, Holly M, primary, Jackson, Kelly A, additional, Nadle, Joelle, additional, Petit, Susan, additional, Ray, Susan M, additional, Lynfield, Ruth, additional, Como-Sabetti, Kathryn, additional, Bernu, Carmen, additional, Dumyati, Ghinwa, additional, Gellert, Anita, additional, Tracy, Marissa, additional, Schaffner, William, additional, and See, Isaac, additional

Published
2022
Full Text
View/download PDF

48. Listeriosis Associated with Stone Fruit — United States, 2014

Author

Jackson, Brendan R., Salter, Monique, Tarr, Cheryl, Conrad, Amanda, Harvey, Emily, Steinbock, Lisa, Saupe, Amy, Sorenson, Alida, Katz, Lee, Stroika, Steven, Jackson, Kelly A., Carleton, Heather, Kucerova, Zuzana, Melka, David, Strain, Errol, Parish, Mickey, and Mody, Rajal K.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results