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12 results on '"Sul, Youngmee"'

1. Integrated intracellular organization and its variations in human iPS cells

Author

Viana, Matheus P., Chen, Jianxu, Knijnenburg, Theo A., Vasan, Ritvik, Yan, Calysta, Arakaki, Joy E., Bailey, Matte, Berry, Ben, Borensztejn, Antoine, Brown, Eva M., Carlson, Sara, Cass, Julie A., Chaudhuri, Basudev, Cordes Metzler, Kimberly R., Coston, Mackenzie E., Crabtree, Zach J., Davidson, Steve, DeLizo, Colette M., Dhaka, Shailja, Dinh, Stephanie Q., Do, Thao P., Domingus, Justin, Donovan-Maiye, Rory M., Ferrante, Alexandra J., Foster, Tyler J., Frick, Christopher L., Fujioka, Griffin, Fuqua, Margaret A., Gehring, Jamie L., Gerbin, Kaytlyn A., Grancharova, Tanya, Gregor, Benjamin W., Harrylock, Lisa J., Haupt, Amanda, Hendershott, Melissa C., Hookway, Caroline, Horwitz, Alan R., Hughes, H. Christopher, Isaac, Eric J., Johnson, Gregory R., Kim, Brian, Leonard, Andrew N., Leung, Winnie W., Lucas, Jordan J., Ludmann, Susan A., Lyons, Blair M., Malik, Haseeb, McGregor, Ryan, Medrash, Gabe E., Meharry, Sean L., Mitcham, Kevin, Mueller, Irina A., Murphy-Stevens, Timothy L., Nath, Aditya, Nelson, Angelique M., Oluoch, Sandra A., Paleologu, Luana, Popiel, T. Alexander, Riel-Mehan, Megan M., Roberts, Brock, Schaefbauer, Lisa M., Schwarzl, Magdalena, Sherman, Jamie, Slaton, Sylvain, Sluzewski, M. Filip, Smith, Jacqueline E., Sul, Youngmee, Swain-Bowden, Madison J., Tang, W. Joyce, Thirstrup, Derek J., Toloudis, Daniel M., Tucker, Andrew P., Valencia, Veronica, Wiegraebe, Winfried, Wijeratna, Thushara, Yang, Ruian, Zaunbrecher, Rebecca J., Labitigan, Ramon Lorenzo D., Sanborn, Adrian L., Johnson, Graham T., Gunawardane, Ruwanthi N., Gaudreault, Nathalie, Theriot, Julie A., and Rafelski, Susanne M.

Published
2023
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2. The Allen Cell Collection: Fluorescent Protein‐tagged Human Induced Pluripotent Stem Cell (hiPSC) Lines to Investigate Cell and Nuclear Organization in Differentiation, Disease, and Regeneration

Author

Fuqua, Margaret, primary, Arakaki, Joy, additional, Sul, Youngmee, additional, Haupt, Amanda, additional, Roberts, Brock, additional, Dinh, Stephanie, additional, Gerbin, Kaytlyn, additional, Nelson, Angelique, additional, Smith, Jacqueline, additional, Zaunbrecher, Rebecca, additional, Grancharova, Tanya, additional, Carlson, Sara, additional, Borenzstejn, Antoine, additional, Frick, Christopher, additional, Gehring, Jamie, additional, Hookway, Caroline, additional, Ludmann, Susan, additional, Mueller, Irina, additional, Thottam, John Paul, additional, Toloudis, Daniel, additional, Johnson, Graham, additional, Rafelski, Susanne, additional, and Gunawardane, Ru, additional

Published
2021
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4. Evidence for involvement of GNB1L in autism

Author

Chen, Ying-Zhang, Matsushita, Mark, Girirajan, Santhosh, Lisowski, Mark, Sun, Elizabeth, Sul, Youngmee, Bernier, Raphael, Estes, Annette, Dawson, Geraldine, Minshew, Nancy, Shellenberg, Gerard D., Eichler, Evan E., Rieder, Mark J., Nickerson, Deborah A., Tsuang, Debby W., Tsuang, Ming T., Wijsman, Ellen M., Raskind, Wendy H., and Brkanac, Zoran

Published
2012
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5. Defensin-driven viral evolution

Author

Diaz, Karina, primary, Hu, Ciara T., additional, Sul, Youngmee, additional, Bromme, Beth A., additional, Myers, Nicolle D., additional, Skorohodova, Ksenia V., additional, Gounder, Anshu P., additional, and Smith, Jason G., additional

Published
2020
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7. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Author

Chen, Dong-Hui, primary, Below, Jennifer E., additional, Shimamura, Akiko, additional, Keel, Sioban B., additional, Matsushita, Mark, additional, Wolff, John, additional, Sul, Youngmee, additional, Bonkowski, Emily, additional, Castella, Maria, additional, Taniguchi, Toshiyasu, additional, Nickerson, Deborah, additional, Papayannopoulou, Thalia, additional, Bird, Thomas D., additional, and Raskind, Wendy H., additional

Published
2016
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9. Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

Author

Chen, Dong-Hui, primary, Naydenov, Alipi, additional, Blankman, Jacqueline L., additional, Mefford, Heather C., additional, Davis, Marie, additional, Sul, Youngmee, additional, Barloon, A. Samuel, additional, Bonkowski, Emily, additional, Wolff, John, additional, Matsushita, Mark, additional, Smith, Corrine, additional, Cravatt, Benjamin F., additional, Mackie, Ken, additional, Raskind, Wendy H., additional, Stella, Nephi, additional, and Bird, Thomas D., additional

Published
2013
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10. Evidence for involvement ofGNB1Lin autism

Author

Chen, Ying‐Zhang, primary, Matsushita, Mark, additional, Girirajan, Santhosh, additional, Lisowski, Mark, additional, Sun, Elizabeth, additional, Sul, Youngmee, additional, Bernier, Raphael, additional, Estes, Annette, additional, Dawson, Geraldine, additional, Minshew, Nancy, additional, Shellenberg, Gerard D., additional, Eichler, Evan E., additional, Rieder, Mark J., additional, Nickerson, Deborah A., additional, Tsuang, Debby W., additional, Tsuang, Ming T., additional, Wijsman, Ellen M., additional, Raskind, Wendy H., additional, and Brkanac, Zoran, additional

Published
2011
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11. Evidence for involvement of GNB1Lin autism

Author

Chen, Ying‐Zhang, Matsushita, Mark, Girirajan, Santhosh, Lisowski, Mark, Sun, Elizabeth, Sul, Youngmee, Bernier, Raphael, Estes, Annette, Dawson, Geraldine, Minshew, Nancy, Shellenberg, Gerard D., Eichler, Evan E., Rieder, Mark J., Nickerson, Deborah A., Tsuang, Debby W., Tsuang, Ming T., Wijsman, Ellen M., Raskind, Wendy H., and Brkanac, Zoran

Abstract

Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome‐22 breakpoint within intron 7 of the GNB1Lgene. Copy number evaluations and direct DNA sequencing of GNB1Lin 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1Lmissense variants in conserved residues in three families (P= 0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1Lmay have a role in schizophrenia. Our findings support involvement of GNB1Lin ASDs as well. © 2011 Wiley Periodicals, Inc.

Published
2012
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12. Evidence for involvement of GNB1L in autism

Author

Shellenberg, Gerard D., Wijsman, Ellen M., Tsuang, Ming T., Matsushita, Mark, Sul, Youngmee, Estes, Annette, Chen, Ying Zhang, Raskind, Wendy H., Eichler, Evan E., Girirajan, Santhosh, Rieder, Mark J., Lisowski, Mark, Dawson, Geraldine, Sun, Elizabeth, Nickerson, Deborah A., Tsuang, Debby W., Bernier, Raphael, Minshew, Nancy, and Brkanac, Zoran

Subjects
mental disorders, 3. Good health
Abstract

Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1 plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome-22 breakpoint within intron 7 of the GNB1L gene. Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P = 0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well. © 2011 Wiley Periodicals, Inc.

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