12 results on '"Corning, Ken"'
Search Results
2. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
- Author
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Werren, Elizabeth, primary, LaForce, Geneva, additional, Srivast, Anshika, additional, Perillo, Delia, additional, Johnson, Katherine, additional, Berger, Brandon, additional, Regan, Samantha, additional, Pfennig, Christian, additional, Baris, Safa, additional, de Munnik, Sonja, additional, Pfundt, Rolph, additional, Hebbar, Malavika, additional, Heredia, Raul Jimenez, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, Dmytrus, Jasmin, additional, Krolo, Ana, additional, Corning, Ken, additional, Prijoles, Eloise, additional, Louie, Raymond, additional, Lebel, Robert, additional, Le, Thuy-Linh, additional, Amiel, Jeanne, additional, Gordon, Christopher, additional, Boztug, Kaan, additional, Girisha, Katta, additional, Shukla, Anju, additional, Bielas, Stephanie, additional, and Schaffer, Ashleigh, additional
- Published
- 2023
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3. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
- Author
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Werren, Elizabeth, primary, LaForce, Geneva R., additional, Srivastava, Anshika, additional, Perillo, Delia R., additional, Johnson, Katherine, additional, Baris, Safa, additional, Berger, Brandon, additional, Regan, Samantha L., additional, Pfennig, Christian D., additional, de Munnik, Sonja, additional, Pfundt, Rolph, additional, Hebbar, Malavika, additional, Jimenez-Heredia, Raúl, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, Dmytrus, Jasmin, additional, Krolo, Ana, additional, Corning, Ken, additional, Prijoles, EJ, additional, Louie, Raymond J., additional, Lebel, Robert R., additional, Le, Thuy-Linh, additional, Gordon, Chris, additional, Boztug, Kaan, additional, Girish, Katta M., additional, Shukla, Anju, additional, Bielas, Stephanie L., additional, and Schaffer, Ashleigh E., additional
- Published
- 2022
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4. Children’s Acceptance of Others with Disability: The Influence of a Disability-Simulation Program
- Author
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Hurst, Christina, Corning, Ken, and Ferrante, Richard
- Published
- 2012
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5. 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal
- Author
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Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Corning, Ken, and DuPont, Barbara R.
- Published
- 2011
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6. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
- Author
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Reijnders, Margot R.F., primary, Ansor, Nurhuda M., additional, Kousi, Maria, additional, Yue, Wyatt W., additional, Tan, Perciliz L., additional, Clarkson, Katie, additional, Clayton-Smith, Jill, additional, Corning, Ken, additional, Jones, Julie R., additional, Lam, Wayne W.K., additional, Mancini, Grazia M.S., additional, Marcelis, Carlo, additional, Mohammed, Shehla, additional, Pfundt, Rolph, additional, Roifman, Maian, additional, Cohn, Ronald, additional, Chitayat, David, additional, Millard, Tom H., additional, Katsanis, Nicholas, additional, Brunner, Han G., additional, and Banka, Siddharth, additional
- Published
- 2017
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7. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Redin, Claire, primary, Brand, Harrison, additional, Collins, Ryan L, additional, Kammin, Tammy, additional, Mitchell, Elyse, additional, Hodge, Jennelle C, additional, Hanscom, Carrie, additional, Pillalamarri, Vamsee, additional, Seabra, Catarina M, additional, Abbott, Mary-Alice, additional, Abdul-Rahman, Omar A, additional, Aberg, Erika, additional, Adley, Rhett, additional, Alcaraz-Estrada, Sofia L, additional, Alkuraya, Fowzan S, additional, An, Yu, additional, Anderson, Mary-Anne, additional, Antolik, Caroline, additional, Anyane-Yeboa, Kwame, additional, Atkin, Joan F, additional, Bartell, Tina, additional, Bernstein, Jonathan A, additional, Beyer, Elizabeth, additional, Blumenthal, Ian, additional, Bongers, Ernie M H F, additional, Brilstra, Eva H, additional, Brown, Chester W, additional, Brüggenwirth, Hennie T, additional, Callewaert, Bert, additional, Chiang, Colby, additional, Corning, Ken, additional, Cox, Helen, additional, Cuppen, Edwin, additional, Currall, Benjamin B, additional, Cushing, Tom, additional, David, Dezso, additional, Deardorff, Matthew A, additional, Dheedene, Annelies, additional, D'Hooghe, Marc, additional, de Vries, Bert B A, additional, Earl, Dawn L, additional, Ferguson, Heather L, additional, Fisher, Heather, additional, FitzPatrick, David R, additional, Gerrol, Pamela, additional, Giachino, Daniela, additional, Glessner, Joseph T, additional, Gliem, Troy, additional, Grady, Margo, additional, Graham, Brett H, additional, Griffis, Cristin, additional, Gripp, Karen W, additional, Gropman, Andrea L, additional, Hanson-Kahn, Andrea, additional, Harris, David J, additional, Hayden, Mark A, additional, Hill, Rosamund, additional, Hochstenbach, Ron, additional, Hoffman, Jodi D, additional, Hopkin, Robert J, additional, Hubshman, Monika W, additional, Innes, A Micheil, additional, Irons, Mira, additional, Irving, Melita, additional, Jacobsen, Jessie C, additional, Janssens, Sandra, additional, Jewett, Tamison, additional, Johnson, John P, additional, Jongmans, Marjolijn C, additional, Kahler, Stephen G, additional, Koolen, David A, additional, Korzelius, Jerome, additional, Kroisel, Peter M, additional, Lacassie, Yves, additional, Lawless, William, additional, Lemyre, Emmanuelle, additional, Leppig, Kathleen, additional, Levin, Alex V, additional, Li, Haibo, additional, Li, Hong, additional, Liao, Eric C, additional, Lim, Cynthia, additional, Lose, Edward J, additional, Lucente, Diane, additional, Macera, Michael J, additional, Manavalan, Poornima, additional, Mandrile, Giorgia, additional, Marcelis, Carlo L, additional, Margolin, Lauren, additional, Mason, Tamara, additional, Masser-Frye, Diane, additional, McClellan, Michael W, additional, Mendoza, Cinthya J Zepeda, additional, Menten, Björn, additional, Middelkamp, Sjors, additional, Mikami, Liya R, additional, Moe, Emily, additional, Mohammed, Shehla, additional, Mononen, Tarja, additional, Mortenson, Megan E, additional, Moya, Graciela, additional, Nieuwint, Aggie W, additional, Ordulu, Zehra, additional, Parkash, Sandhya, additional, Pauker, Susan P, additional, Pereira, Shahrin, additional, Perrin, Danielle, additional, Phelan, Katy, additional, Aguilar, Raul E Piña, additional, Poddighe, Pino J, additional, Pregno, Giulia, additional, Raskin, Salmo, additional, Reis, Linda, additional, Rhead, William, additional, Rita, Debra, additional, Renkens, Ivo, additional, Roelens, Filip, additional, Ruliera, Jayla, additional, Rump, Patrick, additional, Schilit, Samantha L P, additional, Shaheen, Ranad, additional, Sparkes, Rebecca, additional, Spiegel, Erica, additional, Stevens, Blair, additional, Stone, Matthew R, additional, Tagoe, Julia, additional, Thakuria, Joseph V, additional, van Bon, Bregje W, additional, van de Kamp, Jiddeke, additional, van Der Burgt, Ineke, additional, van Essen, Ton, additional, van Ravenswaaij-Arts, Conny M, additional, van Roosmalen, Markus J, additional, Vergult, Sarah, additional, Volker-Touw, Catharina M L, additional, Warburton, Dorothy P, additional, Waterman, Matthew J, additional, Wiley, Susan, additional, Wilson, Anna, additional, Yerena-de Vega, Maria de la Concepcion A, additional, Zori, Roberto T, additional, Levy, Brynn, additional, Brunner, Han G, additional, de Leeuw, Nicole, additional, Kloosterman, Wigard P, additional, Thorland, Erik C, additional, Morton, Cynthia C, additional, Gusella, James F, additional, and Talkowski, Michael E, additional
- Published
- 2016
- Full Text
- View/download PDF
8. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Author
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Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E
- Abstract
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
- Published
- 2017
- Full Text
- View/download PDF
9. 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal
- Author
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Zarate, Yuri A., primary, Dwivedi, Alka, additional, Bartel, Frank O., additional, Corning, Ken, additional, and DuPont, Barbara R., additional
- Published
- 2010
- Full Text
- View/download PDF
10. Clinical and behavioral characteristics in FG syndrome
- Author
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Graham, John M., primary, Superneau, Duane, additional, Rogers, R. Curtis, additional, Corning, Ken, additional, Schwartz, Charles E., additional, and Dykens, Elisabeth M., additional
- Published
- 1999
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- View/download PDF
11. FG syndrome: Report of three new families with linkage to xq12-q22.1
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Graham, John M., primary, Tackels, Darci, additional, Dibbern, Kurt, additional, Superneau, Duane, additional, Rogers, Curtis, additional, Corning, Ken, additional, and Schwartz, Charles E., additional
- Published
- 1998
- Full Text
- View/download PDF
12. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
- Author
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Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, and Schaffer A
- Abstract
THOC6 is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports mammalian mRNA processing that is distinct from yeast TREX dimer functions. Human and mouse TIDS model systems allow novel THOC6-dependent TREX tetramer functions to be investigated. Biallelic loss-of-functon(LOF) THOC6 variants do not influence the expression and localization of TREX members in human cells, but our data suggests reduced binding affinity of ALYREF. Impairment of TREX nuclear export functions were not detected in cells with biallelic THOC6 LOF. Instead, mRNA mis-splicing was observed in human and mouse neural tissue, revealing novel insights into THOC6-mediated TREX coordination of mRNA processing. We demonstrate that THOC6 is required for regulation of key signaling pathways in human corticogenesis that dictate the transition from proliferative to neurogenic divisions that may inform TIDS neuropathology., Competing Interests: COMPETING INTERESTS The authors declare no competing interests.
- Published
- 2023
- Full Text
- View/download PDF
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