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201. Commentary: Investors need courage in down times to see opportunities

Author

Wilson, Ashley

Subjects
Economic recovery, Investors -- Practice, Risk (Economics), Business, News, opinion and commentary
Abstract

Byline: Ashley Wilson IÆm starting to receive phone calls that are reminiscent of 2008. ItÆs understandable that investors are jumpy about todayÆs economy and market environment. Jobs and housing numbers [...]

Published
2011

202. Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Author

Dangiolo, Silvana Beatriz, Wilson, Ashley L., Jobanputra, Vaidehi, and Anyane-Yeboa, Kwame

Subjects
Pancreatitis, FOS: Biological sciences, Medical genetics, Developmental biology, Genetics, Genetic disorders--Diagnosis, Cystic fibrosis--Patients, Medical sciences
Abstract

Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four cases which had several features in common, including a prominent metopic suture, hypertelorism, exophthalmos, cleft lip and palate, limb anomalies, as well as difficulty feeding with severe developmental delays. In almost 50% of cases that meet the clinical criteria for BOS, de novo frameshift and nonsense mutations in the ASXL1 gene have been detected, suggesting that loss of function of this gene is a major cause. We report on the clinical characterization of one young female patient who was evaluated because of severe developmental delays, failure to thrive, and multiple minor anomalies and was clinically diagnosed with BOS. Whole exome sequencing analysis detected one novel disruptive frameshift mutation in the ASXL1 gene and we were also able to confirm the presence of two CFTR mutations associated with her chronic pancreatitis with acute severe breakthrough attacks requiring multiple ICU admissions. This latter complication of pancreatitis further contributed to the complexity of the clinical presentation and represents an independent genetic finding. Our case report emphasizes the importance of highly specific phenotypic characterization of patients with complex phenotypes before proceeding with molecular studies. That approach will lead to more accurate molecular data interpretation and better clinical genetic diagnosis, particularly for those patients with rare, difficult-to-diagnose disorders.

Published
2015
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203. A Series of Tattoo-associated Infections.

Author

SCHLESINGER, TODD E., WILSON, ASHLEY E., TRIVEDI, LISA, LATHAM, PHILLIP J., and BALL, ROBERT

Subjects
*MYCOBACTERIAL diseases, *DRINKING water, *DIAGNOSIS, *MYCOBACTERIUM
Abstract

Mycobacterium fortuitum is a rapidly growing mycobacterium known to spread through many sources, including tap water. This organism can have variable presentation between patients which can lead to a delay in diagnosis. Here, we report a series of eight cases of tattoo-associated M. fortuitum infections that presented between December 2010 and January 2011, which were later linked to a single tattoo provider using gray tattoo ink made by diluting black ink with nonsterile tap water. In this case series, we emphasize the lack of pathognomonic features of these infections, the variability in culture and biopsy results, the importance of obtaining a culture in addition to a biopsy, and the importance of identifying the source of infection when determining management. [ABSTRACT FROM AUTHOR]

Published
2021

210. Ground-based near-UV observations of 15 transiting exoplanets: constraints on their atmospheres and no evidence for asymmetrical transits

Author

Turner, Jake D., primary, Pearson, Kyle A., additional, Biddle, Lauren I., additional, Smart, Brianna M., additional, Zellem, Robert T., additional, Teske, Johanna K., additional, Hardegree-Ullman, Kevin K., additional, Griffith, Caitlin C., additional, Leiter, Robin M., additional, Cates, Ian T., additional, Nieberding, Megan N., additional, Smith, Carter-Thaxton W., additional, Thompson, Robert M., additional, Hofmann, Ryan, additional, Berube, Michael P., additional, Nguyen, Chi H., additional, Small, Lindsay C., additional, Guvenen, Blythe C., additional, Richardson, Logan, additional, McGraw, Allison, additional, Raphael, Brandon, additional, Crawford, Benjamin E., additional, Robertson, Amy N., additional, Tombleson, Ryan, additional, Carleton, Timothy M., additional, Towner, Allison P.M., additional, Walker-LaFollette, Amanda M., additional, Hume, Jeffrey R., additional, Watson, Zachary T., additional, Jones, Christen K., additional, Lichtenberger, Matthew J., additional, Hoglund, Shelby R., additional, Cook, Kendall L., additional, Crossen, Cory A., additional, Jorgensen, Curtis R., additional, Romine, James M., additional, Thompson, Alejandro R., additional, Villegas, Christian F., additional, Wilson, Ashley A., additional, Sanford, Brent, additional, Taylor, Joanna M., additional, and Henz, Triana N., additional

Published
2016
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211. De novo variants in HK1associated with neurodevelopmental abnormalities and visual impairment

Author

Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, and Chung, Wendy K.

Abstract

Hexokinase 1 (HK1)phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Hexokinase activity in red blood cells of two patients was normal, suggesting that the disease mechanism is not due to loss of hexokinase enzymatic activity.

Published
2019
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212. Book review of Counseling Children and Adolescents Through Grief and Loss

Author

Wilson, Ashley

Subjects
Counseling Children and Adolescents Through Grief and Loss (Nonfiction work) -- Book reviews, Books -- Book reviews
Abstract

* Counseling Children and Adolescents Through Grief and Loss by Jody J. Fiorini & Jodi Ann Mullen, 2006, Champaign, IL: Research Press, 244 pages, $26.95, ISBN 978-0878225538. Although a number [...]

Published
2009

213. Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Author

Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, and Jamra, Rami Abou

Abstract

Heterozygous pathogenic variants in NTRK2(HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation

Published
2024
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215. De novo mutations in PURA are associated with hypotonia and developmental delay

Author

Tanaka, Akemi J., primary, Bai, Renkui, additional, Cho, Megan T., additional, Anyane-Yeboa, Kwame, additional, Ahimaz, Priyanka, additional, Wilson, Ashley L., additional, Kendall, Fran, additional, Hay, Beverly, additional, Moss, Timothy, additional, Nardini, Monica, additional, Bauer, Mislen, additional, Retterer, Kyle, additional, Juusola, Jane, additional, and Chung, Wendy K., additional

Published
2015
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220. Like Water, Like Clouds

Author

Wilson, Ashley Kristen, English, Roy, Lucinda H., Mann, Jeffrey A., and D'Aguiar, Frederick M.

Subjects
creative writing, fiction, short stories
Abstract

This collection of short fiction explores femininity – a difficult term, in and of itself, because it implies that to be a woman is to be feminine in the traditional sense, or feminist in the revolutionary sense – rarely do the connotations allow for much in between. But I choose this term over “womanhood," for example, because it is more difficult, and culturally loaded, and conflicted, and even offensive. In truth, these stories attempt to portray the multi-faceted nature of how we see the feminine. They hope to convey the most fragile and complicated net of relationships, with men and with women, with mothers and fathers and children and lovers and enemies, each of whom make their own demands about what sort of femininity they require. Considering all this, I tend to think that there is no such thing as the much-talked-about “strong woman" in real life, not completely. She is constantly being pushed into corners where she is weak, or careless, or cruel–secretly unsure of who she is expected and ought to be. The result is a female psyche that is always shifting and disintegrating and dissolving, becoming someone or something else, like the characters in these eight stories. The modern woman is no sure thing. She is in flux and changing shape. And really, it is for those of us who watch to decide if it is for better, or for worse. Master of Fine Arts

Published
2009

221. ENLIGHten-01: A phase 1 study of fluorescein-specific (FITC-E2)-CAR T cells in combination with folate-fluorescein (UB-TT170) for osteosarcoma.

Author

Albert, Catherine Michelle, Pinto, Navin R., Taylor, Mallory, Wilson, Ashley, Rawlings-Rhea, Stephanie, Huang, Wenjun, Seidel, Kristy, Narayanaswamy, Prabha, Mgebroff, Stephanie, Brown, Christopher, Garcia, Jacob, Teoh, Jeffrey, Gardner, Rebecca Alice, Orentas, Rimas, Jensen, Michael C., and Park, Julie R.

Published
2023
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223. New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Author

Tuzovic, Lea, primary, Tang, Sha, additional, Miller, Russell S., additional, Rohena, Luis, additional, Shahmirzadi, Layla, additional, Gonzalez, Kelly, additional, Li, Xiang, additional, LeDuc, Charles A., additional, Guo, Jiancheng, additional, Wilson, Ashley, additional, Mills, Ashley, additional, Glassberg, Kenneth, additional, Rotterdam, Heidi, additional, Sepulveda, Antonia R., additional, Zeng, Wenqi, additional, Chung, Wendy K., additional, and Anyane-Yeboa, Kwame, additional

Published
2015
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225. A CLC-type F-/H+antiporter in ion-swapped conformations

Author

Last, Nicholas, Stockbridge, Randy, Wilson, Ashley, Shane, Tania, Kolmakova-Partensky, Ludmila, Koide, Akiko, Koide, Shohei, and Miller, Christopher

Abstract

Fluoride/proton antiporters of the CLCFfamily combat F–toxicity in bacteria by exporting this halide from the cytoplasm. These transporters belong to the widespread CLC superfamily but display transport properties different from those of the well-studied Cl–/H+antiporters. Here, we report a structural and functional investigation of these F–-transport proteins. Crystal structures of a CLCFhomolog from Enterococcus casseliflavusare captured in two conformations with simultaneous accessibility of F–and H+ions via separate pathways on opposite sides of the membrane. Manipulation of a key glutamate residue critical for H+and F–transport reverses the anion selectivity of transport; replacement of the glutamate with glutamine or alanine completely inhibits F–and H+transport while allowing for rapid uncoupled flux of Cl–. The structural and functional results lead to a ‘windmill’ model of CLC antiport wherein F–and H+simultaneously move through separate ion-specific pathways that switch sidedness during the transport cycle. Crystal structures of the CLCFproton-coupled fluoride antiporter Eca in two conformations capture two rotamers of the gating glutamate and reveal simultaneous accessibility of F–and H+ions via separate pathways on opposite sides of the membrane.

Published
2018
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226. The associations between social-media use and academic performance among undergraduate students in biology

Author

Leyrer-Jackson, Jonna M. and Wilson, Ashley K.

Abstract

AbstractRecent studies have been conducted in regards to the use of social- media by students and how it can impact his/her academic performance. However, much of this research has been focused on how to use social-media websites in the classroom to facilitate student learning. Therefore, we aimed to address how the use of social-media can be either beneficial or detrimental to undergraduate students, with respect to their academic performance. We distributed a survey to 234 participants, all attending the same four-year university. Throughout the survey, the students self-reported their grade point average (GPA), study habits, and social-media use. We established that female students use social-media websites more often than their male peers, and using a Pearson’s correlation, we found that GPA negatively correlated with the number of social-media websites to which students subscribe (p < 0.05). Furthermore, we found that using more social-media websites correlated positively with the amount of time students spend using social-media platforms on a daily basis. Although previous studies indicate that social-media websites should be incorporated into the classroom, our results suggest that this addition may have negative effects on the study habits and academic performance of undergraduate students, particularly those within the field of biological sciences.

Published
2018
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227. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de malformations vasculaires congénitales, Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J, Irvine, Alan D, Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R, Burrows, Patricia E, Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K, Wilson, Ashley, Gardiner, Carol A, Dwight, Yim, Lord, David J E, Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria Del C, Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E, Salhi, Aicha, Tan, Oon T, Wargon, Orli, Mulliken, John B, Vikkula, Miikka, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de malformations vasculaires congénitales, Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J, Irvine, Alan D, Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R, Burrows, Patricia E, Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K, Wilson, Ashley, Gardiner, Carol A, Dwight, Yim, Lord, David J E, Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria Del C, Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E, Salhi, Aicha, Tan, Oon T, Wargon, Orli, Mulliken, John B, and Vikkula, Miikka

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.

Published
2013

228. Breast cancer antiestrogen resistance 3 (BCAR3) promotes cell motility by regulating actin cytoskeletal and adhesion remodeling in invasive breast cancer cells.

Author

Wilson, Ashley L, Schrecengost, Randy S, Guerrero, Michael S, Thomas, Keena S, Bouton, Amy H, Wilson, Ashley L, Schrecengost, Randy S, Guerrero, Michael S, Thomas, Keena S, and Bouton, Amy H

Abstract

Metastatic breast cancer is incurable. In order to improve patient survival, it is critical to develop a better understanding of the molecular mechanisms that regulate metastasis and the underlying process of cell motility. Here, we focus on the role of the adaptor molecule Breast Cancer Antiestrogen Resistance 3 (BCAR3) in cellular processes that contribute to cell motility, including protrusion, adhesion remodeling, and contractility. Previous work from our group showed that elevated BCAR3 protein levels enhance cell migration, while depletion of BCAR3 reduces the migratory and invasive capacities of breast cancer cells. In the current study, we show that BCAR3 is necessary for membrane protrusiveness, Rac1 activity, and adhesion disassembly in invasive breast cancer cells. We further demonstrate that, in the absence of BCAR3, RhoA-dependent signaling pathways appear to predominate, as evidenced by an increase in RhoA activity, ROCK-mediated phosphorylation of myosin light chain II, and large ROCK/mDia1-dependent focal adhesions. Taken together, these data establish that BCAR3 functions as a positive regulator of cytoskeletal remodeling and adhesion turnover in invasive breast cancer cells through its ability to influence the balance between Rac1 and RhoA signaling. Considering that BCAR3 protein levels are elevated in advanced breast cancer cell lines and enhance breast cancer cell motility, we propose that BCAR3 functions in the transition to advanced disease by triggering intracellular signaling events that are essential to the metastatic process.

Published
2013

229. Near-UV and optical observations of the transiting exoplanet TrES-3b

Author

Turner, Jake D., Smart, Brianna M., Hardegree-Ullman, Kevin K., Carleton, Timothy M., Walker-LaFollette, Amanda M., Crawford, Benjamin E., Smith, Carter-Thaxton W., McGraw, Allison M., Small, Lindsay C., Rocchetto, Marco, Cunningham, Kathryn I., Towner, Allison P. M., Zellem, Robert, Robertson, Amy N., Guvenen, Blythe C., Schwarz, Kamber R., Hardegree-Ullman, Emily E., Collura, Daniel, Henz, Triana N., Lejoly, Cassandra, Richardson, Logan L., Weinand, Michael A., Taylor, Joanna M., Daugherty, Michael J., Wilson, Ashley A., Austin, Carmen L., Turner, Jake D., Smart, Brianna M., Hardegree-Ullman, Kevin K., Carleton, Timothy M., Walker-LaFollette, Amanda M., Crawford, Benjamin E., Smith, Carter-Thaxton W., McGraw, Allison M., Small, Lindsay C., Rocchetto, Marco, Cunningham, Kathryn I., Towner, Allison P. M., Zellem, Robert, Robertson, Amy N., Guvenen, Blythe C., Schwarz, Kamber R., Hardegree-Ullman, Emily E., Collura, Daniel, Henz, Triana N., Lejoly, Cassandra, Richardson, Logan L., Weinand, Michael A., Taylor, Joanna M., Daugherty, Michael J., Wilson, Ashley A., and Austin, Carmen L.

Abstract

We observed nine primary transits of the hot Jupiter TrES-3b in several optical and near-UV photometric bands from 2009 June to 2012 April in an attempt to detect its magnetic field. Vidotto, Jardine and Helling suggest that the magnetic field of TrES-3b can be constrained if its near-UV light curve shows an early ingress compared to its optical light curve, while its egress remains unaffected. Predicted magnetic field strengths of Jupiter-like planets should range between 8 G and 30 G. Using these magnetic field values and an assumed B_star of 100 G, the Vidotto et al. method predicts a timing difference of 5-11 min. We did not detect an early ingress in our three nights of near-UV observations, despite an average cadence of 68 s and an average photometric precision of 3.7 mmag. However, we determined an upper limit of TrES-3b's magnetic field strength to range between 0.013 and 1.3 G (for a 1-100 G magnetic field strength range for the host star, TrES-3) using a timing difference of 138 s derived from the Nyquist-Shannon sampling theorem. To verify our results of an abnormally small magnetic field strength for TrES-3b and to further constrain the techniques of Vidotto et al., we propose future observations of TrES-3b with other platforms capable of achieving a shorter near-UV cadence. We also present a refinement of the physical parameters of TrES-3b, an updated ephemeris and its first published near-UV light curve. We find that the near-UV planetary radius of Rp = 1.386+0.248-0.144 RJup is consistent with the planet's optical radius., Comment: Accepted for Publication in Monthly Notices of the Royal Astronomical Society (2012 September 21). 13 pages, 5 figures

Published
2012
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232. RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Author

Revencu, Nicole, primary, Boon, Laurence M., additional, Mendola, Antonella, additional, Cordisco, Maria Rosa, additional, Dubois, Josée, additional, Clapuyt, Philippe, additional, Hammer, Frank, additional, Amor, David J., additional, Irvine, Alan D., additional, Baselga, Eulalia, additional, Dompmartin, Anne, additional, Syed, Samira, additional, Martin-Santiago, Ana, additional, Ades, Lesley, additional, Collins, Felicity, additional, Smith, Janine, additional, Sandaradura, Sarah, additional, Barrio, Victoria R., additional, Burrows, Patricia E., additional, Blei, Francine, additional, Cozzolino, Mariarosaria, additional, Brunetti-Pierri, Nicola, additional, Vicente, Asuncion, additional, Abramowicz, Marc, additional, Désir, Julie, additional, Vilain, Catheline, additional, Chung, Wendy K., additional, Wilson, Ashley, additional, Gardiner, Carol A., additional, Dwight, Yim, additional, Lord, David J.E., additional, Fishman, Leona, additional, Cytrynbaum, Cheryl, additional, Chamlin, Sarah, additional, Ghali, Fred, additional, Gilaberte, Yolanda, additional, Joss, Shelagh, additional, Boente, Maria del C., additional, Léauté-Labrèze, Christine, additional, Delrue, Marie-Ange, additional, Bayliss, Susan, additional, Martorell, Loreto, additional, González-Enseñat, Maria-Antonia, additional, Mazereeuw-Hautier, Juliette, additional, O'Donnell, Brid, additional, Bessis, Didier, additional, Pyeritz, Reed E., additional, Salhi, Aicha, additional, Tan, Oon T., additional, Wargon, Orli, additional, Mulliken, John B., additional, and Vikkula, Miikka, additional

Published
2013
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237. Glue : a student journal, Vol. 08

Author

Rodriguez, Javier; Alexander, Nicholas; Patterson, Calob; Naunheimer, Andrew; Killion, Stephen; Shiverdecker, Travis; Pruden, Adam; Short, Diana; Johnson, Mike; Scott, Darrell; Villarreal, Jason; Anderson-Decina, Evan T.; Hoopingarner, Brandon; Perkins, Wesley W.; Bajor, Daniel G.; Montgomery, Kevin; Peterson, Katie; Woodfin, C. Daniel; Pace, Brian W.; Alexander, Nicholas; Shiverdecker, Travis; Wilson, Ashley; Stanley, Tyler; Ofner, Johanna; McCormick, Megan; Hostetler, Jeremy; Alexander, Nicholas; Busald, Kyle; Tisue, Ashley; Dotson, Olon; Pradhan, Sweata; Ellsworth, Ryan; Perry, Kyle; Keaffaber, Kyle; Miller, Adam; Parmele, Logan U.; Ertel, Merritt M.; Vant Hoff, Chris; Killinger, Chris; Helfrich, Stefanie; Tarcin, Andrew; Leap, Kelsey; Herber, Nathan; Glass, Andrew; Carleton, Andrew; Lanius, Brandon; Chiuini, Michele; Cruz, German; Wolner, Ted; Collison, Steven; Flanigan, Kelly; Soest, Matt Van; James, Adam; Schaffer, David; Goyak, Matt; Mullendore, Jessica; Keaffaber, Kyle; Vonderau, Sam; Drake, Erin; Lang, Andrew; Durbin, Austin; Boone, Elizabeth; Perchick, Emily; Gasior, Barbara; Weber, Neil, 1985-2009; Sanders, Tyler; Wiegand, Jon; Eckstein, Lindsey; Schmidt, Joe; Ziulkowski, Nathan R.; Bushey, Jeff; Hanus, Ben; Kolarevic, Branko, Ball State University. College of Architecture and Planning, Rodriguez, Javier; Alexander, Nicholas; Patterson, Calob; Naunheimer, Andrew; Killion, Stephen; Shiverdecker, Travis; Pruden, Adam; Short, Diana; Johnson, Mike; Scott, Darrell; Villarreal, Jason; Anderson-Decina, Evan T.; Hoopingarner, Brandon; Perkins, Wesley W.; Bajor, Daniel G.; Montgomery, Kevin; Peterson, Katie; Woodfin, C. Daniel; Pace, Brian W.; Alexander, Nicholas; Shiverdecker, Travis; Wilson, Ashley; Stanley, Tyler; Ofner, Johanna; McCormick, Megan; Hostetler, Jeremy; Alexander, Nicholas; Busald, Kyle; Tisue, Ashley; Dotson, Olon; Pradhan, Sweata; Ellsworth, Ryan; Perry, Kyle; Keaffaber, Kyle; Miller, Adam; Parmele, Logan U.; Ertel, Merritt M.; Vant Hoff, Chris; Killinger, Chris; Helfrich, Stefanie; Tarcin, Andrew; Leap, Kelsey; Herber, Nathan; Glass, Andrew; Carleton, Andrew; Lanius, Brandon; Chiuini, Michele; Cruz, German; Wolner, Ted; Collison, Steven; Flanigan, Kelly; Soest, Matt Van; James, Adam; Schaffer, David; Goyak, Matt; Mullendore, Jessica; Keaffaber, Kyle; Vonderau, Sam; Drake, Erin; Lang, Andrew; Durbin, Austin; Boone, Elizabeth; Perchick, Emily; Gasior, Barbara; Weber, Neil, 1985-2009; Sanders, Tyler; Wiegand, Jon; Eckstein, Lindsey; Schmidt, Joe; Ziulkowski, Nathan R.; Bushey, Jeff; Hanus, Ben; Kolarevic, Branko, and Ball State University. College of Architecture and Planning

Abstract

An annual non-profit student journal produced and managed by students of the Department of Architecture at Ball State University., Volume This archival material has been provided for educational purposes. Ball State University Libraries recognizes that some historic items may include offensive content. Our statement regarding objectionable content is available at: https://dmr.bsu.edu/digital/about

Published
2007

238. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Author

Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash, Akdemir, Kadir, Jhangiani, Shalini, Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi, Abellar, Rosanna, Bateman, David, Wilson, Ashley, Markham, Melinda, Slamon, Jill, Santos-Simarro, Fernando, Palomares, María, Nevado, Julián, and Lapunzina, Pablo

Subjects
LUNG abnormalities, DYSPLASIA, DNA copy number variations, FORKHEAD transcription factors, PATHOLOGICAL physiology
Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV. [ABSTRACT FROM AUTHOR]

Published
2016
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241. Molecular diagnostic dilemmas in Rett syndrome

Author

Zvereff, Val, primary, Carpenter, Lori, additional, Patton, Dagny, additional, Cabral, Huong, additional, Rita, Debra, additional, Wilson, Ashley, additional, Anyane-Yeboa, Kwame, additional, White, Larry, additional, and Friedman, Kenneth J., additional

Published
2012
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244. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Author

Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., and Vikkula, Miikka

Abstract

Supplemental Digital Content is available in the text.

Published
2017
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245. Use of green chemical technologies in an integrated biorefinery

Author

Budarin, Vitaly L., primary, Shuttleworth, Peter S., additional, Dodson, Jennifer R., additional, Hunt, Andrew J., additional, Lanigan, Brigid, additional, Marriott, Ray, additional, Milkowski, Kris J., additional, Wilson, Ashley J., additional, Breeden, Simon W., additional, Fan, Jiajun, additional, Sin, Emily H. K., additional, and Clark, James H., additional

Published
2011
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249. DECATUR TEEN PINS FUTURE CAREER ON FASHION DESIGN

Author

Wilson, Ashley

Subjects
General interest, News, opinion and commentary, Parsons School of Design
Abstract

Every fashion designer dreams of building a loyal clientele and a library of bankable designs. At 17, Kiana Iona has already built a small business creating clothes for her friends [...]

Published
2004

250. The preparation of high-grade bio-oils through the controlled, low temperature microwave activation of wheat straw

Author

Budarin, Vitaly L., primary, Clark, James H., additional, Lanigan, Brigid A., additional, Shuttleworth, Peter, additional, Breeden, Simon W., additional, Wilson, Ashley J., additional, Macquarrie, Duncan J., additional, Milkowski, Kris, additional, Jones, Jenny, additional, Bridgeman, Toby, additional, and Ross, Andy, additional

Published
2009
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