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Your search keyword '"Bilancia, Colleen G."' showing total 15 results
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15 results on '"Bilancia, Colleen G."'

3. List of Contributors

Author

Acharya, Ganesh, primary, Aertsen, Michael, additional, Afshar, Yalda, additional, Ananth, Cande V., additional, Ashworth, Michael, additional, Au, Patrick, additional, Bakalis, Spyros, additional, Benoist, Guillaume, additional, Bilancia, Colleen G., additional, Bilardo, Caterina M., additional, Bryant, Louise D., additional, Butler, Colin R., additional, Van Calenbergh, Frank, additional, Caritis, Steve N., additional, Chitty, Lyn S., additional, Collins, Patricia, additional, Cook, James, additional, Cuckle, Howard, additional, David, Anna L., additional, De Catte, Luc, additional, De Coppi, Paolo, additional, de Jong-Pleij, Elisabeth, additional, De Keersmaecker, Bart, additional, Deprest, Jan, additional, Devlieger, Roland, additional, de Wert, Guido M., additional, Dickinson, Jan E., additional, Dilworth, Mark, additional, Dondorp, Wybo J., additional, Dunk, Caroline E., additional, Everett, Thomas R., additional, Fisher, Jane, additional, Galan, Henry L., additional, Ganapathi, Mythily, additional, Gardiner, Helena M., additional, Gotherstrom, Cecilia, additional, Harding, Richard, additional, Hewison, Jenny, additional, Hewitt, Richard J., additional, Hiersch, Liran, additional, Hill, Melissa, additional, Hillman, Sara L., additional, Hindryckx, An, additional, Hooper, Stuart B., additional, Huppertz, Berthold, additional, Hutchinson, J. Ciaran, additional, Hyett, Jon, additional, Joyeux, Luc, additional, Jurkovic, Davor, additional, Kingdom, John C., additional, Langlois, Sylvie, additional, Lemon, Lara S., additional, Leruez-Ville, Marianne, additional, Lewi, Liesbeth, additional, Levy, Brynn, additional, Loke, Y.W., additional, Lopriore, Enrico, additional, Macones, George A., additional, Malone, Fergal D., additional, Martirosian, Anahit, additional, McAuliffe, Fionnuala, additional, McDougall, Annie R.A., additional, Moise, Kenneth J., additional, Moffett, Ashley, additional, Müllers, Sieglinde M., additional, Neiger, Ran, additional, Newnham, John P., additional, Obican, Sarah G., additional, Odibo, Anthony O., additional, Oepkes, Dick, additional, Pandya, Pranav P., additional, Platt, Lawrence D., additional, Pratt, Rosalind, additional, Rajah, Kuhan, additional, Rao, Rashmi, additional, Richter, Jute, additional, Rosenbloom, Joshua I., additional, Russo, Francesca Maria, additional, Scialli, Anthony R., additional, Sebire, Neil J., additional, Sharkey, Andrew, additional, Shelmerdine, Susan C., additional, Sibley, Colin, additional, Snowise, Saul, additional, Steggerda, Sylke, additional, Su, Emily J., additional, Tang, Mary, additional, Te Pas, Arjan B., additional, Tita, Alan T., additional, Ushakov, Fred, additional, Van den Veyver, Ignatia B., additional, van Klink, Jeanine M., additional, Venkataramanan, Raman, additional, Ville, Yves, additional, Walkiewicz, Magdalena, additional, Wallis, Colin, additional, Walther-Jallow, Lilian, additional, Wapner, Ronald J., additional, Westgren, Magnus, additional, White, Scott W., additional, Wilson, Louise C., additional, Wilson, R. Douglas, additional, Winkelhorst, Dian, additional, Winyard, Paul J.D., additional, Wohlmuth, Christoph, additional, Wou, Karen, additional, Yaron, Yuval, additional, Leung, Kwok Yin, additional, and Yulia, Angela, additional

Published
2020
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10. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Author

Hemati, Parisa, Revah‐Politi, Anya, Bassan, Haim, Petrovski, Slavé, Bilancia, Colleen G., Ramsey, Keri, Griffin, Nicole G., Bier, Louise, Cho, Megan T., Rosello, Monica, Lynch, Sally Ann, Colombo, Sophie, Weber, Astrid, Haug, Marte, Heinzen, Erin L., Sands, Tristan T., Narayanan, Vinodh, Primiano, Michelle, Aggarwal, Vimla S., and Millan, Francisca

Abstract

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non‐ambulatory and nonverbal. The most observed substitution affects the p.Ile80 residue encoded in exon 6, with 28% of patients carrying a variant at this residue. Dystonia and growth delay were observed more frequently in patients carrying variants in this residue, suggesting a potential genotype–phenotype correlation. In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1. In addition, cutaneous mastocytosis, reported once before in a patient with a GNB1 variant, was observed in three additional patients, providing further evidence for an association to GNB1. We will review clinical and molecular data of these new cases and all previously reported cases to further define the phenotype and establish possible genotype–phenotype correlations. [ABSTRACT FROM AUTHOR]

Published
2018
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11. Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.

Author

Sengillo, Jesse D., Lee, Winston, Bilancia, Colleen G., Jobanputra, Vaidehi, and Tsang, Stephen H.

Abstract

Purpose: To report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in SPATA7, and describe the progression over a two year follow-up period.Methods: Retrospective case study.Results: A 63-year-old man with a long history of nyctalopia, progressive visual field constriction, and a recent subacute decrease in visual acuity of the left eye presented for evaluation of a suspected retinal degeneration. Multimodal retinal imaging and functional assessment with full-field electroretinogram suggested a severe rod-cone dysfunction masquerading as a choroideremia-like phenotype. A vitreous opacity was found to explain recent changes in the left eye and a 25-guage vitrectomy and membrane peel was performed, yielding no change in visual acuity. Whole-exome sequencing revealed compound heterozygous variants in SPATA7 that were predicted to be pathogenic.Conclusions: Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging. [ABSTRACT FROM AUTHOR]

Published
2018
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13. Enabled Negatively Regulates Diaphanous-Driven Actin Dynamics In Vitro and In Vivo

Author

Bilancia, Colleen G., primary, Winkelman, Jonathan D., additional, Tsygankov, Denis, additional, Nowotarski, Stephanie H., additional, Sees, Jennifer A., additional, Comber, Kate, additional, Evans, Iwan, additional, Lakhani, Vinal, additional, Wood, Will, additional, Elston, Timothy C., additional, Kovar, David R., additional, and Peifer, Mark, additional

Published
2014
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14. Enabled Negatively Regulates Diaphanous-Driven Actin Dynamics In Vitro and In Vivo

Author

Tsygankov, Denis, Wood, Will, Peifer, Mark, Kovar, David R., Nowotarski, Stephanie H., Sees, Jennifer A., Elston, Timothy C., Lakhani, Vinal, Evans, Iwan, Winkelman, Jonathan D., Bilancia, Colleen G., and Comber, Kate

Subjects
3. Good health
Abstract

Actin regulators facilitate cell migration by controlling cell protrusion architecture and dynamics. As the behavior of individual actin regulators becomes clear, we must address why cells require multiple regulators with similar functions and how they cooperate to create diverse protrusions. We characterized Diaphanous (Dia) and Enabled (Ena) as a model, using complementary approaches: cell culture, biophysical analysis, and Drosophila morphogenesis. We found that Dia and Ena have distinct biochemical properties that contribute to the different protrusion morphologies each induces. Dia is a more processive, faster elongator, paralleling the long, stable filopodia it induces in vivo, while Ena promotes filopodia with more dynamic changes in number, length, and lifetime. Acting together, Ena and Dia induce protrusions distinct from those induced by either alone, with Ena reducing Dia-driven protrusion length and number. Consistent with this, EnaEVH1 binds Dia directly and inhibits DiaFH1FH2-mediated nucleation in vitro. Finally, Ena rescues hemocyte migration defects caused by activated Dia.

15. A new case of severe hemophilia and Moyamoya (SHAM) syndrome.

Author

Bilancia, Colleen G., Varma, Hemant, and Aggarwal, Vimla

Subjects
*HEMOPHILIACS, *HEMOPHILIA, *JOINT diseases, *HYPERTROPHY, *COMPUTED tomography, *CRANIOTOMY
Abstract

The article presents a case study of a 22-year-old male who had hemophilia A with a clinical history coherent with a severe hemophilia phenotype. The patient is hypertensive, with left kidney cysts, chronic arthropathy of the left elbow and mild left ventricular hypertrophy. Computed tomography (CT) imaging identified an acute right frontal temporal extra-axial hemorrhage, performing craniotomy to remove the subdural hematoma.

Published
2016

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